Incidental Mutation 'R1730:Col12a1'
| ID |
199250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col12a1
|
| Ensembl Gene |
ENSMUSG00000032332 |
| Gene Name |
collagen, type XII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
039762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
R1730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79506273-79626113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79535660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 2612
(V2612G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071750]
[ENSMUST00000121227]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071750
AA Change: V2612G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: V2612G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FN3
|
25 |
103 |
2.29e-10 |
SMART |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
VWA
|
138 |
317 |
4e-63 |
SMART |
|
FN3
|
334 |
413 |
1.47e-8 |
SMART |
|
VWA
|
438 |
617 |
2.41e-57 |
SMART |
|
FN3
|
632 |
710 |
1.62e-10 |
SMART |
|
FN3
|
723 |
801 |
2.91e-12 |
SMART |
|
FN3
|
814 |
892 |
6.05e-10 |
SMART |
|
FN3
|
905 |
984 |
2.74e-8 |
SMART |
|
FN3
|
995 |
1074 |
1.24e-6 |
SMART |
|
FN3
|
1087 |
1166 |
5.78e-7 |
SMART |
|
VWA
|
1197 |
1376 |
2.02e-59 |
SMART |
|
FN3
|
1385 |
1463 |
1.13e-9 |
SMART |
|
FN3
|
1474 |
1554 |
1.07e-10 |
SMART |
|
FN3
|
1566 |
1643 |
3.73e-10 |
SMART |
|
FN3
|
1655 |
1734 |
2.94e-8 |
SMART |
|
FN3
|
1755 |
1834 |
1.54e-11 |
SMART |
|
FN3
|
1846 |
1924 |
1.45e-7 |
SMART |
|
FN3
|
1936 |
2015 |
1.47e-8 |
SMART |
|
FN3
|
2027 |
2106 |
1.21e-9 |
SMART |
|
FN3
|
2118 |
2195 |
2.14e-10 |
SMART |
|
FN3
|
2206 |
2285 |
3.85e-3 |
SMART |
|
low complexity region
|
2292 |
2314 |
N/A |
INTRINSIC |
|
VWA
|
2323 |
2503 |
2.61e-53 |
SMART |
|
TSPN
|
2522 |
2714 |
1.13e-76 |
SMART |
|
Pfam:Collagen
|
2747 |
2804 |
1.7e-8 |
PFAM |
|
Pfam:Collagen
|
2802 |
2855 |
6.5e-9 |
PFAM |
|
Pfam:Collagen
|
2844 |
2904 |
1.1e-9 |
PFAM |
|
Pfam:Collagen
|
2939 |
2994 |
4.6e-8 |
PFAM |
|
low complexity region
|
3011 |
3044 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121227
AA Change: V2612G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: V2612G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FN3
|
25 |
103 |
2.29e-10 |
SMART |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
VWA
|
138 |
317 |
4e-63 |
SMART |
|
FN3
|
334 |
413 |
1.47e-8 |
SMART |
|
VWA
|
438 |
617 |
2.41e-57 |
SMART |
|
FN3
|
632 |
710 |
1.62e-10 |
SMART |
|
FN3
|
723 |
801 |
2.91e-12 |
SMART |
|
FN3
|
814 |
892 |
6.05e-10 |
SMART |
|
FN3
|
905 |
984 |
2.74e-8 |
SMART |
|
FN3
|
995 |
1074 |
1.24e-6 |
SMART |
|
FN3
|
1087 |
1166 |
5.78e-7 |
SMART |
|
VWA
|
1197 |
1376 |
2.02e-59 |
SMART |
|
FN3
|
1385 |
1463 |
1.13e-9 |
SMART |
|
FN3
|
1474 |
1554 |
1.07e-10 |
SMART |
|
FN3
|
1566 |
1643 |
3.73e-10 |
SMART |
|
FN3
|
1655 |
1734 |
2.94e-8 |
SMART |
|
FN3
|
1755 |
1834 |
1.54e-11 |
SMART |
|
FN3
|
1846 |
1924 |
1.45e-7 |
SMART |
|
FN3
|
1936 |
2015 |
1.47e-8 |
SMART |
|
FN3
|
2027 |
2106 |
1.21e-9 |
SMART |
|
FN3
|
2118 |
2195 |
2.14e-10 |
SMART |
|
FN3
|
2206 |
2285 |
3.85e-3 |
SMART |
|
low complexity region
|
2292 |
2314 |
N/A |
INTRINSIC |
|
VWA
|
2323 |
2503 |
2.61e-53 |
SMART |
|
TSPN
|
2522 |
2714 |
1.13e-76 |
SMART |
|
Pfam:Collagen
|
2747 |
2804 |
4.7e-9 |
PFAM |
|
Pfam:Collagen
|
2802 |
2861 |
2.9e-9 |
PFAM |
|
Pfam:Collagen
|
2838 |
2900 |
7.1e-8 |
PFAM |
|
Pfam:Collagen
|
2935 |
2990 |
1.3e-8 |
PFAM |
|
low complexity region
|
3007 |
3040 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 205 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,896,259 (GRCm39) |
I369T |
possibly damaging |
Het |
| Aass |
T |
C |
6: 23,121,018 (GRCm39) |
D82G |
probably damaging |
Het |
| Abi3bp |
G |
A |
16: 56,488,642 (GRCm39) |
V1258I |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,941,081 (GRCm39) |
V41E |
probably benign |
Het |
| Aff1 |
T |
G |
5: 103,981,378 (GRCm39) |
L514V |
probably damaging |
Het |
| Ankdd1b |
G |
T |
13: 96,597,411 (GRCm39) |
T7K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,401,312 (GRCm39) |
I1111V |
probably benign |
Het |
| Bag3 |
A |
T |
7: 128,125,583 (GRCm39) |
M1L |
possibly damaging |
Het |
| C4bp |
C |
G |
1: 130,570,725 (GRCm39) |
V284L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,046,454 (GRCm39) |
F1761S |
probably benign |
Het |
| Camsap2 |
C |
T |
1: 136,209,053 (GRCm39) |
R802Q |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,225,672 (GRCm39) |
T635A |
probably damaging |
Het |
| Ccdc93 |
C |
T |
1: 121,383,855 (GRCm39) |
P192L |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,389,668 (GRCm39) |
V237A |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,377,160 (GRCm39) |
V333I |
probably benign |
Het |
| Cd55 |
C |
A |
1: 130,387,370 (GRCm39) |
A143S |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,821,114 (GRCm39) |
E541D |
probably damaging |
Het |
| Cdh20 |
C |
G |
1: 109,993,465 (GRCm39) |
L307V |
possibly damaging |
Het |
| Cep63 |
T |
A |
9: 102,496,066 (GRCm39) |
I114F |
possibly damaging |
Het |
| Cfh |
C |
T |
1: 140,075,435 (GRCm39) |
V268I |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,741,180 (GRCm39) |
M265T |
probably benign |
Het |
| Cfhr2 |
A |
C |
1: 139,741,197 (GRCm39) |
N259K |
probably benign |
Het |
| Chi3l1 |
C |
T |
1: 134,116,267 (GRCm39) |
A250V |
probably damaging |
Het |
| Cnr1 |
A |
G |
4: 33,943,851 (GRCm39) |
T80A |
possibly damaging |
Het |
| Cntnap5a |
C |
A |
1: 116,382,734 (GRCm39) |
L1001I |
probably benign |
Het |
| Cntnap5a |
C |
T |
1: 116,382,873 (GRCm39) |
T1047I |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,382,831 (GRCm39) |
L1033S |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,162,517 (GRCm39) |
M1214V |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,171,155 (GRCm39) |
R684H |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,170,733 (GRCm39) |
G825R |
probably damaging |
Het |
| Crb1 |
G |
A |
1: 139,168,876 (GRCm39) |
P881S |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,165,360 (GRCm39) |
H921Q |
probably benign |
Het |
| Cxcr4 |
C |
T |
1: 128,517,014 (GRCm39) |
V216I |
probably benign |
Het |
| Cyb5r1 |
C |
T |
1: 134,335,405 (GRCm39) |
R147W |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,313,389 (GRCm39) |
H295L |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,687,719 (GRCm39) |
M426K |
possibly damaging |
Het |
| Ddx59 |
T |
C |
1: 136,344,791 (GRCm39) |
V154A |
probably benign |
Het |
| Dsel |
G |
C |
1: 111,787,724 (GRCm39) |
T937S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
| Dsg2 |
G |
A |
18: 20,724,937 (GRCm39) |
V448I |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,384,722 (GRCm39) |
L739F |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,350 (GRCm39) |
S197G |
unknown |
Het |
| Eogt |
T |
C |
6: 97,090,825 (GRCm39) |
D438G |
probably damaging |
Het |
| Etnk2 |
C |
A |
1: 133,293,325 (GRCm39) |
D89E |
probably benign |
Het |
| Etnk2 |
G |
T |
1: 133,293,503 (GRCm39) |
G149W |
probably damaging |
Het |
| Etnk2 |
C |
T |
1: 133,293,554 (GRCm39) |
R166* |
probably null |
Het |
| Etnk2 |
G |
A |
1: 133,293,555 (GRCm39) |
R166Q |
probably benign |
Het |
| Etnk2 |
T |
A |
1: 133,304,653 (GRCm39) |
V292E |
probably benign |
Het |
| Etnk2 |
A |
G |
1: 133,291,661 (GRCm39) |
S54G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,414,398 (GRCm39) |
T98A |
probably damaging |
Het |
| Eya2 |
G |
T |
2: 165,529,583 (GRCm39) |
G109W |
probably damaging |
Het |
| Fam131b |
T |
G |
6: 42,295,514 (GRCm39) |
Q221P |
possibly damaging |
Het |
| Fam72a |
C |
T |
1: 131,466,633 (GRCm39) |
T139M |
probably benign |
Het |
| Fam72a |
T |
C |
1: 131,458,406 (GRCm39) |
I56T |
probably benign |
Het |
| Fcamr |
G |
A |
1: 130,740,366 (GRCm39) |
G262S |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,740,429 (GRCm39) |
I283V |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,740,475 (GRCm39) |
V298A |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,740,546 (GRCm39) |
M322V |
probably benign |
Het |
| Fcamr |
C |
T |
1: 130,740,553 (GRCm39) |
P324L |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,742,334 (GRCm39) |
N574D |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,739,317 (GRCm39) |
I206V |
probably benign |
Het |
| Fcmr |
T |
C |
1: 130,806,006 (GRCm39) |
S321P |
probably benign |
Het |
| Fcmr |
A |
G |
1: 130,803,711 (GRCm39) |
T172A |
probably benign |
Het |
| Gabarap |
C |
T |
11: 69,882,515 (GRCm39) |
|
probably benign |
Het |
| Gatad2a |
G |
T |
8: 70,362,586 (GRCm39) |
H600N |
probably damaging |
Het |
| Gba2 |
A |
G |
4: 43,578,242 (GRCm39) |
C36R |
probably benign |
Het |
| Gli2 |
G |
T |
1: 118,929,774 (GRCm39) |
H44Q |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,795,817 (GRCm39) |
A113T |
possibly damaging |
Het |
| Gm10961 |
T |
C |
3: 107,540,310 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
T |
C |
1: 166,465,908 (GRCm39) |
D227G |
possibly damaging |
Het |
| Gpr37l1 |
C |
A |
1: 135,089,268 (GRCm39) |
E266* |
probably null |
Het |
| Gucy1a2 |
A |
T |
9: 3,634,957 (GRCm39) |
N334Y |
probably benign |
Het |
| H2-D1 |
A |
G |
17: 35,482,381 (GRCm39) |
T34A |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,887,666 (GRCm39) |
P2466L |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,907,653 (GRCm39) |
A231T |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,899,865 (GRCm39) |
R482Q |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,898,149 (GRCm39) |
S806G |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,895,937 (GRCm39) |
A1543V |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,910,213 (GRCm39) |
R124W |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,926,421 (GRCm39) |
I10V |
unknown |
Het |
| Ikbke |
C |
A |
1: 131,193,674 (GRCm39) |
A459S |
probably benign |
Het |
| Ikbke |
T |
C |
1: 131,197,560 (GRCm39) |
S447G |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Kcna5 |
A |
T |
6: 126,510,823 (GRCm39) |
I435N |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,233,488 (GRCm39) |
I276V |
probably damaging |
Het |
| Kcnt2 |
G |
A |
1: 140,282,285 (GRCm39) |
S90N |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,396,713 (GRCm39) |
K340E |
probably damaging |
Het |
| Kif14 |
G |
A |
1: 136,406,103 (GRCm39) |
A556T |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,418,070 (GRCm39) |
S868G |
probably benign |
Het |
| Kif14 |
C |
T |
1: 136,431,169 (GRCm39) |
L1189F |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,443,699 (GRCm39) |
F1291L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,453,521 (GRCm39) |
V1433A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,396,017 (GRCm39) |
N108D |
probably benign |
Het |
| Klhl20 |
A |
G |
1: 160,930,560 (GRCm39) |
V314A |
possibly damaging |
Het |
| Lad1 |
C |
T |
1: 135,755,761 (GRCm39) |
R346C |
probably damaging |
Het |
| Lad1 |
C |
T |
1: 135,755,119 (GRCm39) |
P132S |
possibly damaging |
Het |
| Lax1 |
T |
C |
1: 133,608,307 (GRCm39) |
N145D |
probably benign |
Het |
| Lax1 |
G |
A |
1: 133,611,372 (GRCm39) |
P67S |
probably damaging |
Het |
| Lax1 |
T |
C |
1: 133,607,716 (GRCm39) |
R342G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,914,826 (GRCm39) |
V641I |
probably benign |
Het |
| Lgr6 |
A |
T |
1: 134,915,747 (GRCm39) |
S334T |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 134,918,373 (GRCm39) |
H263N |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,931,214 (GRCm39) |
S3N |
probably benign |
Het |
| Lin7b |
A |
T |
7: 45,019,351 (GRCm39) |
H72Q |
probably benign |
Het |
| Lmod1 |
C |
T |
1: 135,291,811 (GRCm39) |
T222I |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,769,000 (GRCm39) |
V1016E |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,046,003 (GRCm39) |
L6P |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,641,794 (GRCm39) |
H549R |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,332,655 (GRCm39) |
V1285A |
probably benign |
Het |
| Mroh3 |
G |
C |
1: 136,119,882 (GRCm39) |
Q440E |
possibly damaging |
Het |
| Mybph |
C |
T |
1: 134,125,218 (GRCm39) |
R249C |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,467,592 (GRCm39) |
D739G |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,512,465 (GRCm39) |
D198E |
possibly damaging |
Het |
| Nfkbib |
A |
T |
7: 28,461,480 (GRCm39) |
Y86N |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,325,932 (GRCm39) |
T1125M |
probably benign |
Het |
| Nr5a2 |
C |
A |
1: 136,879,863 (GRCm39) |
R35L |
probably benign |
Het |
| Nrip1 |
G |
T |
16: 76,089,778 (GRCm39) |
T593K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,964,459 (GRCm39) |
Y726H |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Olfml2b |
G |
A |
1: 170,509,358 (GRCm39) |
G569S |
probably damaging |
Het |
| Optc |
C |
G |
1: 133,832,908 (GRCm39) |
S64T |
probably benign |
Het |
| Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
| Or10v5 |
T |
A |
19: 11,805,445 (GRCm39) |
Q315L |
probably benign |
Het |
| Or2f1 |
C |
A |
6: 42,721,069 (GRCm39) |
L33M |
possibly damaging |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4f14b |
T |
C |
2: 111,775,633 (GRCm39) |
H56R |
probably benign |
Het |
| Or7c19 |
A |
C |
8: 85,957,477 (GRCm39) |
M118L |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,760,268 (GRCm39) |
I286K |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,518 (GRCm39) |
Y144H |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,586 (GRCm39) |
I45F |
possibly damaging |
Het |
| Pard6g |
T |
A |
18: 80,123,040 (GRCm39) |
F25I |
probably damaging |
Het |
| Parp6 |
C |
A |
9: 59,540,821 (GRCm39) |
C291* |
probably null |
Het |
| Pigr |
C |
T |
1: 130,772,259 (GRCm39) |
A159V |
possibly damaging |
Het |
| Pik3c2b |
C |
T |
1: 132,994,365 (GRCm39) |
P110S |
probably benign |
Het |
| Plekha6 |
C |
G |
1: 133,215,584 (GRCm39) |
T792S |
probably benign |
Het |
| Polr2i |
T |
C |
7: 29,932,493 (GRCm39) |
C67R |
probably damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,227,059 (GRCm39) |
P1159S |
probably benign |
Het |
| Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,963,758 (GRCm39) |
N618S |
possibly damaging |
Het |
| Ptpn7 |
A |
G |
1: 135,062,213 (GRCm39) |
Q53R |
probably benign |
Het |
| Ptprc |
T |
G |
1: 138,027,414 (GRCm39) |
N478T |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,039,992 (GRCm39) |
K212E |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,035,575 (GRCm39) |
V400A |
probably benign |
Het |
| Ptprc |
C |
A |
1: 138,035,562 (GRCm39) |
E402D |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,035,561 (GRCm39) |
S405P |
probably benign |
Het |
| Rab29 |
A |
G |
1: 131,799,848 (GRCm39) |
Q141R |
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,759,314 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ren1 |
C |
T |
1: 133,281,975 (GRCm39) |
T32I |
probably benign |
Het |
| Ren1 |
T |
A |
1: 133,281,944 (GRCm39) |
W22R |
probably damaging |
Het |
| Ren1 |
C |
G |
1: 133,287,745 (GRCm39) |
L360V |
probably benign |
Het |
| Ren1 |
A |
T |
1: 133,287,721 (GRCm39) |
N352Y |
probably benign |
Het |
| Ren1 |
A |
T |
1: 133,286,817 (GRCm39) |
E315D |
probably benign |
Het |
| Ren1 |
A |
C |
1: 133,284,195 (GRCm39) |
K187Q |
probably benign |
Het |
| Rims1 |
C |
T |
1: 22,416,753 (GRCm39) |
|
probably null |
Het |
| Rnpep |
C |
T |
1: 135,190,834 (GRCm39) |
A571T |
possibly damaging |
Het |
| Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
| Ro60 |
C |
T |
1: 143,635,752 (GRCm39) |
V465I |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,959,386 (GRCm39) |
F110L |
probably benign |
Het |
| Sctr |
G |
A |
1: 119,990,987 (GRCm39) |
S440N |
possibly damaging |
Het |
| Sele |
T |
G |
1: 163,882,192 (GRCm39) |
V559G |
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
probably benign |
Het |
| Serpinb10 |
C |
T |
1: 107,466,203 (GRCm39) |
S63F |
probably damaging |
Het |
| Serpinb2 |
C |
A |
1: 107,451,564 (GRCm39) |
A239E |
probably benign |
Het |
| Serpinb2 |
C |
T |
1: 107,451,620 (GRCm39) |
H258Y |
probably benign |
Het |
| Serpinb2 |
C |
T |
1: 107,451,624 (GRCm39) |
T259I |
probably benign |
Het |
| Serpinb2 |
A |
C |
1: 107,452,273 (GRCm39) |
S284R |
probably benign |
Het |
| Serpinb2 |
G |
A |
1: 107,443,365 (GRCm39) |
A55T |
probably damaging |
Het |
| Serpinb8 |
A |
C |
1: 107,534,734 (GRCm39) |
L268F |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,525,257 (GRCm39) |
S20G |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,526,684 (GRCm39) |
A75T |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,384,296 (GRCm39) |
Y382* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,206,880 (GRCm39) |
|
probably null |
Het |
| Slc25a41 |
T |
C |
17: 57,346,921 (GRCm39) |
E10G |
probably benign |
Het |
| Slc26a9 |
C |
T |
1: 131,691,608 (GRCm39) |
A617V |
probably benign |
Het |
| Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
| Steap3 |
G |
A |
1: 120,162,108 (GRCm39) |
A350V |
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,155,480 (GRCm39) |
N493S |
probably benign |
Het |
| Susd4 |
A |
G |
1: 182,681,543 (GRCm39) |
E128G |
probably damaging |
Het |
| Synpo2l |
G |
A |
14: 20,715,887 (GRCm39) |
P233S |
probably damaging |
Het |
| Tbc1d17 |
A |
C |
7: 44,494,555 (GRCm39) |
S227A |
probably damaging |
Het |
| Tfg |
G |
T |
16: 56,533,152 (GRCm39) |
N2K |
probably damaging |
Het |
| Thsd7b |
A |
C |
1: 130,044,368 (GRCm39) |
Q1116P |
probably benign |
Het |
| Thsd7b |
G |
C |
1: 129,605,920 (GRCm39) |
A554P |
probably benign |
Het |
| Thsd7b |
C |
T |
1: 129,556,628 (GRCm39) |
T328I |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 129,595,674 (GRCm39) |
F498Y |
probably benign |
Het |
| Tmem143 |
G |
A |
7: 45,556,426 (GRCm39) |
D144N |
possibly damaging |
Het |
| Tnnt2 |
C |
T |
1: 135,773,244 (GRCm39) |
|
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,996,864 (GRCm39) |
L630P |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,750,645 (GRCm39) |
N691S |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,547,336 (GRCm39) |
T32237P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,899,905 (GRCm39) |
A149V |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,260,342 (GRCm39) |
T158A |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,367,093 (GRCm39) |
V998D |
probably benign |
Het |
| Vwa5b2 |
C |
T |
16: 20,419,675 (GRCm39) |
P644S |
probably damaging |
Het |
| Wars1 |
A |
C |
12: 108,841,667 (GRCm39) |
F160C |
probably damaging |
Het |
| Zc3h11a |
G |
A |
1: 133,549,892 (GRCm39) |
P695S |
probably benign |
Het |
| Zc3h11a |
C |
T |
1: 133,552,359 (GRCm39) |
V583I |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,811,898 (GRCm39) |
T184A |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,938 (GRCm39) |
D375G |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,524,551 (GRCm39) |
L164P |
probably benign |
Het |
| Zp3r |
C |
A |
1: 130,547,151 (GRCm39) |
E8D |
possibly damaging |
Het |
|
| Other mutations in Col12a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Col12a1
|
APN |
9 |
79,588,819 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL00434:Col12a1
|
APN |
9 |
79,560,614 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL00465:Col12a1
|
APN |
9 |
79,604,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00568:Col12a1
|
APN |
9 |
79,558,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Col12a1
|
APN |
9 |
79,554,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00580:Col12a1
|
APN |
9 |
79,599,508 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01015:Col12a1
|
APN |
9 |
79,541,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Col12a1
|
APN |
9 |
79,611,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Col12a1
|
APN |
9 |
79,585,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Col12a1
|
APN |
9 |
79,551,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01630:Col12a1
|
APN |
9 |
79,564,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01648:Col12a1
|
APN |
9 |
79,508,451 (GRCm39) |
makesense |
probably null |
|
|
IGL01878:Col12a1
|
APN |
9 |
79,557,257 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01921:Col12a1
|
APN |
9 |
79,557,299 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02064:Col12a1
|
APN |
9 |
79,599,654 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02123:Col12a1
|
APN |
9 |
79,569,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02312:Col12a1
|
APN |
9 |
79,588,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Col12a1
|
APN |
9 |
79,523,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02328:Col12a1
|
APN |
9 |
79,589,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Col12a1
|
APN |
9 |
79,557,178 (GRCm39) |
splice site |
probably null |
|
|
IGL02355:Col12a1
|
APN |
9 |
79,537,993 (GRCm39) |
splice site |
probably benign |
|
|
IGL02362:Col12a1
|
APN |
9 |
79,537,993 (GRCm39) |
splice site |
probably benign |
|
|
IGL02396:Col12a1
|
APN |
9 |
79,569,865 (GRCm39) |
missense |
probably benign |
|
|
IGL02449:Col12a1
|
APN |
9 |
79,548,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Col12a1
|
APN |
9 |
79,606,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Col12a1
|
APN |
9 |
79,521,141 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02801:Col12a1
|
APN |
9 |
79,515,696 (GRCm39) |
splice site |
probably null |
|
|
IGL03001:Col12a1
|
APN |
9 |
79,540,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Col12a1
|
APN |
9 |
79,548,833 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03090:Col12a1
|
APN |
9 |
79,585,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Col12a1
|
APN |
9 |
79,588,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Col12a1
|
APN |
9 |
79,606,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Col12a1
|
APN |
9 |
79,585,665 (GRCm39) |
splice site |
probably null |
|
|
IGL03348:Col12a1
|
APN |
9 |
79,600,712 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
airship
|
UTSW |
9 |
79,613,619 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
dirigible
|
UTSW |
9 |
79,611,111 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Feast
|
UTSW |
9 |
79,607,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
hardly
|
UTSW |
9 |
79,607,632 (GRCm39) |
nonsense |
probably null |
|
|
hearty
|
UTSW |
9 |
79,551,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hefty
|
UTSW |
9 |
79,569,736 (GRCm39) |
splice site |
probably benign |
|
|
P0045:Col12a1
|
UTSW |
9 |
79,554,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4260001:Col12a1
|
UTSW |
9 |
79,558,662 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4280001:Col12a1
|
UTSW |
9 |
79,585,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Col12a1
|
UTSW |
9 |
79,558,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Col12a1
|
UTSW |
9 |
79,558,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Col12a1
|
UTSW |
9 |
79,559,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0276:Col12a1
|
UTSW |
9 |
79,538,023 (GRCm39) |
nonsense |
probably null |
|
|
R0309:Col12a1
|
UTSW |
9 |
79,507,293 (GRCm39) |
splice site |
probably null |
|
|
R0336:Col12a1
|
UTSW |
9 |
79,609,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0376:Col12a1
|
UTSW |
9 |
79,600,776 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0413:Col12a1
|
UTSW |
9 |
79,606,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Col12a1
|
UTSW |
9 |
79,588,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0542:Col12a1
|
UTSW |
9 |
79,512,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0610:Col12a1
|
UTSW |
9 |
79,615,130 (GRCm39) |
missense |
probably benign |
|
|
R0631:Col12a1
|
UTSW |
9 |
79,610,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Col12a1
|
UTSW |
9 |
79,564,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0667:Col12a1
|
UTSW |
9 |
79,535,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Col12a1
|
UTSW |
9 |
79,559,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Col12a1
|
UTSW |
9 |
79,519,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Col12a1
|
UTSW |
9 |
79,588,656 (GRCm39) |
splice site |
probably benign |
|
|
R0787:Col12a1
|
UTSW |
9 |
79,545,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0890:Col12a1
|
UTSW |
9 |
79,607,684 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0900:Col12a1
|
UTSW |
9 |
79,591,535 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1109:Col12a1
|
UTSW |
9 |
79,607,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Col12a1
|
UTSW |
9 |
79,527,371 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1321:Col12a1
|
UTSW |
9 |
79,524,991 (GRCm39) |
nonsense |
probably null |
|
|
R1344:Col12a1
|
UTSW |
9 |
79,606,837 (GRCm39) |
nonsense |
probably null |
|
|
R1387:Col12a1
|
UTSW |
9 |
79,588,657 (GRCm39) |
splice site |
probably benign |
|
|
R1511:Col12a1
|
UTSW |
9 |
79,606,834 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1523:Col12a1
|
UTSW |
9 |
79,568,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1526:Col12a1
|
UTSW |
9 |
79,564,080 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1564:Col12a1
|
UTSW |
9 |
79,521,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Col12a1
|
UTSW |
9 |
79,509,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Col12a1
|
UTSW |
9 |
79,520,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Col12a1
|
UTSW |
9 |
79,600,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1737:Col12a1
|
UTSW |
9 |
79,610,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Col12a1
|
UTSW |
9 |
79,540,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1748:Col12a1
|
UTSW |
9 |
79,580,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1778:Col12a1
|
UTSW |
9 |
79,511,867 (GRCm39) |
splice site |
probably benign |
|
|
R1845:Col12a1
|
UTSW |
9 |
79,604,823 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1864:Col12a1
|
UTSW |
9 |
79,534,385 (GRCm39) |
splice site |
probably null |
|
|
R1876:Col12a1
|
UTSW |
9 |
79,585,563 (GRCm39) |
nonsense |
probably null |
|
|
R1934:Col12a1
|
UTSW |
9 |
79,511,804 (GRCm39) |
nonsense |
probably null |
|
|
R1942:Col12a1
|
UTSW |
9 |
79,542,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Col12a1
|
UTSW |
9 |
79,537,831 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2027:Col12a1
|
UTSW |
9 |
79,553,075 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2061:Col12a1
|
UTSW |
9 |
79,524,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2064:Col12a1
|
UTSW |
9 |
79,569,736 (GRCm39) |
splice site |
probably benign |
|
|
R2070:Col12a1
|
UTSW |
9 |
79,554,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2112:Col12a1
|
UTSW |
9 |
79,551,181 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2209:Col12a1
|
UTSW |
9 |
79,599,634 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2275:Col12a1
|
UTSW |
9 |
79,542,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2330:Col12a1
|
UTSW |
9 |
79,540,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2373:Col12a1
|
UTSW |
9 |
79,564,095 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2425:Col12a1
|
UTSW |
9 |
79,585,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2428:Col12a1
|
UTSW |
9 |
79,509,533 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2437:Col12a1
|
UTSW |
9 |
79,599,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2831:Col12a1
|
UTSW |
9 |
79,604,683 (GRCm39) |
missense |
probably null |
0.99 |
|
R2851:Col12a1
|
UTSW |
9 |
79,585,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Col12a1
|
UTSW |
9 |
79,606,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Col12a1
|
UTSW |
9 |
79,606,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Col12a1
|
UTSW |
9 |
79,606,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2904:Col12a1
|
UTSW |
9 |
79,559,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:Col12a1
|
UTSW |
9 |
79,559,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Col12a1
|
UTSW |
9 |
79,607,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Col12a1
|
UTSW |
9 |
79,551,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Col12a1
|
UTSW |
9 |
79,587,593 (GRCm39) |
missense |
probably benign |
|
|
R3430:Col12a1
|
UTSW |
9 |
79,587,593 (GRCm39) |
missense |
probably benign |
|
|
R3547:Col12a1
|
UTSW |
9 |
79,540,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Col12a1
|
UTSW |
9 |
79,547,005 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4091:Col12a1
|
UTSW |
9 |
79,609,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4328:Col12a1
|
UTSW |
9 |
79,607,671 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4382:Col12a1
|
UTSW |
9 |
79,538,023 (GRCm39) |
nonsense |
probably null |
|
|
R4392:Col12a1
|
UTSW |
9 |
79,569,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Col12a1
|
UTSW |
9 |
79,547,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4465:Col12a1
|
UTSW |
9 |
79,580,192 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4521:Col12a1
|
UTSW |
9 |
79,540,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4612:Col12a1
|
UTSW |
9 |
79,523,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4613:Col12a1
|
UTSW |
9 |
79,554,883 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4649:Col12a1
|
UTSW |
9 |
79,547,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Col12a1
|
UTSW |
9 |
79,520,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Col12a1
|
UTSW |
9 |
79,520,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Col12a1
|
UTSW |
9 |
79,606,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Col12a1
|
UTSW |
9 |
79,559,368 (GRCm39) |
splice site |
probably null |
|
|
R4761:Col12a1
|
UTSW |
9 |
79,564,592 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4784:Col12a1
|
UTSW |
9 |
79,585,776 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4785:Col12a1
|
UTSW |
9 |
79,585,776 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4809:Col12a1
|
UTSW |
9 |
79,600,849 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4821:Col12a1
|
UTSW |
9 |
79,622,622 (GRCm39) |
intron |
probably benign |
|
|
R4925:Col12a1
|
UTSW |
9 |
79,582,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Col12a1
|
UTSW |
9 |
79,607,632 (GRCm39) |
nonsense |
probably null |
|
|
R5034:Col12a1
|
UTSW |
9 |
79,564,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Col12a1
|
UTSW |
9 |
79,512,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5138:Col12a1
|
UTSW |
9 |
79,551,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5145:Col12a1
|
UTSW |
9 |
79,613,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5152:Col12a1
|
UTSW |
9 |
79,564,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Col12a1
|
UTSW |
9 |
79,607,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Col12a1
|
UTSW |
9 |
79,585,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5328:Col12a1
|
UTSW |
9 |
79,527,342 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5372:Col12a1
|
UTSW |
9 |
79,585,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Col12a1
|
UTSW |
9 |
79,521,645 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5496:Col12a1
|
UTSW |
9 |
79,509,467 (GRCm39) |
splice site |
probably benign |
|
|
R5537:Col12a1
|
UTSW |
9 |
79,606,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5596:Col12a1
|
UTSW |
9 |
79,611,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Col12a1
|
UTSW |
9 |
79,606,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Col12a1
|
UTSW |
9 |
79,523,347 (GRCm39) |
nonsense |
probably null |
|
|
R5796:Col12a1
|
UTSW |
9 |
79,611,111 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5829:Col12a1
|
UTSW |
9 |
79,540,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Col12a1
|
UTSW |
9 |
79,511,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5919:Col12a1
|
UTSW |
9 |
79,509,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5974:Col12a1
|
UTSW |
9 |
79,589,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5981:Col12a1
|
UTSW |
9 |
79,585,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5982:Col12a1
|
UTSW |
9 |
79,537,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Col12a1
|
UTSW |
9 |
79,563,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6090:Col12a1
|
UTSW |
9 |
79,599,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6293:Col12a1
|
UTSW |
9 |
79,521,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6393:Col12a1
|
UTSW |
9 |
79,562,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6457:Col12a1
|
UTSW |
9 |
79,552,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Col12a1
|
UTSW |
9 |
79,554,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6508:Col12a1
|
UTSW |
9 |
79,557,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Col12a1
|
UTSW |
9 |
79,527,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6718:Col12a1
|
UTSW |
9 |
79,606,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Col12a1
|
UTSW |
9 |
79,540,706 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6774:Col12a1
|
UTSW |
9 |
79,613,619 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6872:Col12a1
|
UTSW |
9 |
79,584,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Col12a1
|
UTSW |
9 |
79,547,091 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6935:Col12a1
|
UTSW |
9 |
79,607,782 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7198:Col12a1
|
UTSW |
9 |
79,557,314 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7296:Col12a1
|
UTSW |
9 |
79,589,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Col12a1
|
UTSW |
9 |
79,613,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7466:Col12a1
|
UTSW |
9 |
79,562,689 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7516:Col12a1
|
UTSW |
9 |
79,520,192 (GRCm39) |
splice site |
probably null |
|
|
R7584:Col12a1
|
UTSW |
9 |
79,610,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7624:Col12a1
|
UTSW |
9 |
79,553,076 (GRCm39) |
splice site |
probably null |
|
|
R7670:Col12a1
|
UTSW |
9 |
79,538,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Col12a1
|
UTSW |
9 |
79,558,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7702:Col12a1
|
UTSW |
9 |
79,588,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Col12a1
|
UTSW |
9 |
79,585,833 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7902:Col12a1
|
UTSW |
9 |
79,548,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7923:Col12a1
|
UTSW |
9 |
79,585,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7986:Col12a1
|
UTSW |
9 |
79,511,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8004:Col12a1
|
UTSW |
9 |
79,591,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Col12a1
|
UTSW |
9 |
79,613,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8056:Col12a1
|
UTSW |
9 |
79,507,220 (GRCm39) |
missense |
|
|
|
R8151:Col12a1
|
UTSW |
9 |
79,537,831 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8203:Col12a1
|
UTSW |
9 |
79,588,831 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8221:Col12a1
|
UTSW |
9 |
79,551,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Col12a1
|
UTSW |
9 |
79,606,594 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8309:Col12a1
|
UTSW |
9 |
79,512,465 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8319:Col12a1
|
UTSW |
9 |
79,555,979 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8351:Col12a1
|
UTSW |
9 |
79,588,694 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8442:Col12a1
|
UTSW |
9 |
79,542,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8500:Col12a1
|
UTSW |
9 |
79,517,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Col12a1
|
UTSW |
9 |
79,568,358 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8700:Col12a1
|
UTSW |
9 |
79,527,371 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8859:Col12a1
|
UTSW |
9 |
79,587,681 (GRCm39) |
nonsense |
probably null |
|
|
R8898:Col12a1
|
UTSW |
9 |
79,599,577 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8930:Col12a1
|
UTSW |
9 |
79,580,665 (GRCm39) |
missense |
probably benign |
|
|
R8932:Col12a1
|
UTSW |
9 |
79,580,665 (GRCm39) |
missense |
probably benign |
|
|
R8949:Col12a1
|
UTSW |
9 |
79,581,970 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8962:Col12a1
|
UTSW |
9 |
79,538,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Col12a1
|
UTSW |
9 |
79,582,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9080:Col12a1
|
UTSW |
9 |
79,517,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9145:Col12a1
|
UTSW |
9 |
79,527,344 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9163:Col12a1
|
UTSW |
9 |
79,548,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9168:Col12a1
|
UTSW |
9 |
79,548,783 (GRCm39) |
nonsense |
probably null |
|
|
R9188:Col12a1
|
UTSW |
9 |
79,509,614 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9258:Col12a1
|
UTSW |
9 |
79,613,645 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9292:Col12a1
|
UTSW |
9 |
79,585,805 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9345:Col12a1
|
UTSW |
9 |
79,541,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9382:Col12a1
|
UTSW |
9 |
79,589,364 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9427:Col12a1
|
UTSW |
9 |
79,589,445 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9601:Col12a1
|
UTSW |
9 |
79,525,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9653:Col12a1
|
UTSW |
9 |
79,584,556 (GRCm39) |
missense |
probably benign |
|
|
R9668:Col12a1
|
UTSW |
9 |
79,546,960 (GRCm39) |
nonsense |
probably null |
|
|
R9762:Col12a1
|
UTSW |
9 |
79,527,266 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0021:Col12a1
|
UTSW |
9 |
79,515,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Col12a1
|
UTSW |
9 |
79,509,506 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0061:Col12a1
|
UTSW |
9 |
79,519,674 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Col12a1
|
UTSW |
9 |
79,507,268 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Col12a1
|
UTSW |
9 |
79,546,978 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGGGAGAAGAAAGATTTCAGCA -3'
(R):5'- GTAGGAACTACTGTGAGGCCAAGAGA -3'
Sequencing Primer
(F):5'- CATGATGAAGGTGAAAAGGACTAAG -3'
(R):5'- AGGCTAGATGACTGTAATTAGGTCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation