Incidental Mutation 'R0383:Col22a1'
| ID |
31122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col22a1
|
| Ensembl Gene |
ENSMUSG00000079022 |
| Gene Name |
collagen, type XXII, alpha 1 |
| Synonyms |
C80743, 2310067L16Rik |
| MMRRC Submission |
038589-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
71667644-71906076 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71740853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 513
(G513D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159993]
[ENSMUST00000160513]
[ENSMUST00000229585]
|
| AlphaFold |
E9Q7P1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000159993
AA Change: G1068D
|
| SMART Domains |
Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: G1068D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
VWA
|
45 |
227 |
1.35e-51 |
SMART |
|
TSPN
|
248 |
436 |
1.26e-33 |
SMART |
|
low complexity region
|
454 |
470 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
494 |
555 |
1.96e-13 |
PROSPERO |
|
internal_repeat_1
|
496 |
643 |
1.49e-19 |
PROSPERO |
|
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
707 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
751 |
823 |
1.5e-9 |
PFAM |
|
Pfam:Collagen
|
810 |
863 |
2.3e-10 |
PFAM |
|
Pfam:Collagen
|
869 |
931 |
4.8e-11 |
PFAM |
|
Pfam:Collagen
|
926 |
990 |
1.1e-10 |
PFAM |
|
Pfam:Collagen
|
1031 |
1087 |
1.7e-10 |
PFAM |
|
Pfam:Collagen
|
1104 |
1162 |
1.8e-11 |
PFAM |
|
low complexity region
|
1173 |
1227 |
N/A |
INTRINSIC |
|
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1257 |
1348 |
3.25e-18 |
PROSPERO |
|
internal_repeat_4
|
1268 |
1347 |
9.67e-7 |
PROSPERO |
|
Pfam:Collagen
|
1389 |
1448 |
4e-10 |
PFAM |
|
Pfam:Collagen
|
1481 |
1540 |
2.6e-9 |
PFAM |
|
low complexity region
|
1546 |
1558 |
N/A |
INTRINSIC |
|
low complexity region
|
1580 |
1590 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160513
AA Change: G179D
|
| SMART Domains |
Protein: ENSMUSP00000124270
Gene: ENSMUSG00000079022
AA Change: G179D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
1 |
60 |
5.7e-13 |
PFAM |
|
Pfam:Collagen
|
43 |
102 |
1.3e-12 |
PFAM |
|
Pfam:Collagen
|
100 |
143 |
2.2e-8 |
PFAM |
|
Pfam:Collagen
|
142 |
194 |
1.9e-11 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229585
AA Change: G513D
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
G |
T |
11: 80,254,767 (GRCm39) |
Y351* |
probably null |
Het |
| Aadac |
G |
T |
3: 59,943,368 (GRCm39) |
R91L |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,370 (GRCm39) |
F621Y |
probably damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,775 (GRCm39) |
D511E |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,782,097 (GRCm39) |
D376V |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,100,400 (GRCm39) |
C399F |
probably benign |
Het |
| Arfgef1 |
C |
T |
1: 10,269,067 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,849,614 (GRCm39) |
V546M |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,765,020 (GRCm39) |
V98E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,651,856 (GRCm39) |
N108D |
probably damaging |
Het |
| Car15 |
C |
A |
16: 17,654,617 (GRCm39) |
E134* |
probably null |
Het |
| Ccdc80 |
T |
G |
16: 44,915,732 (GRCm39) |
Y163D |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,841,268 (GRCm39) |
M537V |
probably benign |
Het |
| Col8a1 |
T |
C |
16: 57,452,805 (GRCm39) |
D66G |
probably damaging |
Het |
| Crot |
C |
A |
5: 9,018,734 (GRCm39) |
S544I |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,435,770 (GRCm39) |
P1062Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,553,334 (GRCm39) |
V774E |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,647,818 (GRCm39) |
M240L |
probably benign |
Het |
| Dlx4 |
A |
G |
11: 95,036,261 (GRCm39) |
V16A |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,958,373 (GRCm39) |
H2703Q |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,122,291 (GRCm39) |
|
probably null |
Het |
| Fn1 |
C |
T |
1: 71,636,844 (GRCm39) |
V168I |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,359 (GRCm39) |
D122V |
probably damaging |
Het |
| Gas2l2 |
A |
T |
11: 83,313,923 (GRCm39) |
I463N |
probably benign |
Het |
| Ggta1 |
G |
T |
2: 35,292,416 (GRCm39) |
P297Q |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,457 (GRCm39) |
R231S |
probably damaging |
Het |
| Gpc1 |
T |
C |
1: 92,782,705 (GRCm39) |
Y151H |
probably damaging |
Het |
| Gpr141b |
A |
G |
13: 19,913,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,973 (GRCm39) |
W119R |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,253 (GRCm39) |
I304V |
probably benign |
Het |
| Helq |
T |
C |
5: 100,927,031 (GRCm39) |
K685R |
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,418,712 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
C |
13: 49,885,818 (GRCm39) |
C1186R |
probably damaging |
Het |
| Ift43 |
T |
C |
12: 86,208,795 (GRCm39) |
V158A |
possibly damaging |
Het |
| Ift70b |
A |
G |
2: 75,768,586 (GRCm39) |
Y56H |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,070,429 (GRCm39) |
I141N |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,149 (GRCm39) |
N1276S |
probably benign |
Het |
| Kif19a |
A |
T |
11: 114,656,340 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kif1b |
T |
G |
4: 149,286,969 (GRCm39) |
H1241P |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,144,510 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Klb |
T |
A |
5: 65,529,842 (GRCm39) |
|
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,131 (GRCm39) |
Y163* |
probably null |
Het |
| Lefty1 |
G |
T |
1: 180,765,199 (GRCm39) |
E256* |
probably null |
Het |
| Lox |
T |
C |
18: 52,662,271 (GRCm39) |
N44S |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,949,663 (GRCm39) |
Y565C |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,349,783 (GRCm39) |
A961V |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,253,619 (GRCm39) |
K496R |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,744,971 (GRCm39) |
H352Q |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,851,310 (GRCm39) |
I188V |
possibly damaging |
Het |
| Notum |
G |
T |
11: 120,545,282 (GRCm39) |
H426N |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,458 (GRCm39) |
I301F |
possibly damaging |
Het |
| Orm2 |
A |
T |
4: 63,282,233 (GRCm39) |
D137V |
probably damaging |
Het |
| Pabpc2 |
G |
A |
18: 39,908,448 (GRCm39) |
G571D |
probably damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,191,735 (GRCm39) |
N599S |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,080 (GRCm39) |
V335A |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,556,446 (GRCm39) |
D592A |
probably damaging |
Het |
| Pmch |
C |
A |
10: 87,927,120 (GRCm39) |
T41K |
possibly damaging |
Het |
| Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
| Pter |
G |
T |
2: 13,005,753 (GRCm39) |
G309* |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,219,024 (GRCm38) |
V406A |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,063,184 (GRCm39) |
E467V |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Ripk4 |
C |
T |
16: 97,549,312 (GRCm39) |
C248Y |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,253,914 (GRCm39) |
W617R |
probably damaging |
Het |
| Smyd5 |
C |
T |
6: 85,417,155 (GRCm39) |
Q178* |
probably null |
Het |
| St18 |
T |
A |
1: 6,873,248 (GRCm39) |
F328I |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,610,570 (GRCm39) |
L124* |
probably null |
Het |
| Tarbp1 |
T |
A |
8: 127,174,223 (GRCm39) |
H861L |
probably benign |
Het |
| Tars1 |
A |
G |
15: 11,390,411 (GRCm39) |
M356T |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,162,819 (GRCm39) |
T221A |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,553,672 (GRCm39) |
|
probably null |
Het |
| Tprg1 |
A |
G |
16: 25,240,985 (GRCm39) |
T254A |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,220,545 (GRCm39) |
N2427K |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,036 (GRCm39) |
S380P |
probably damaging |
Het |
| Tyrobp |
C |
T |
7: 30,114,042 (GRCm39) |
R68C |
probably damaging |
Het |
| Ubl4b |
T |
C |
3: 107,462,143 (GRCm39) |
E39G |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,863 (GRCm39) |
F661I |
probably damaging |
Het |
| Upf3b |
A |
G |
X: 36,368,120 (GRCm39) |
I144T |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,320 (GRCm39) |
D1165E |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,129,281 (GRCm39) |
T724I |
possibly damaging |
Het |
| Vsig1 |
A |
G |
X: 139,837,062 (GRCm39) |
I247M |
possibly damaging |
Het |
| Zfp110 |
C |
A |
7: 12,583,187 (GRCm39) |
L612I |
probably benign |
Het |
| Zfp318 |
C |
A |
17: 46,724,222 (GRCm39) |
T2075K |
probably damaging |
Het |
| Zfp37 |
A |
G |
4: 62,110,122 (GRCm39) |
M1T |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,720 (GRCm39) |
C613S |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,769,792 (GRCm39) |
P146S |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,896,791 (GRCm39) |
N427S |
probably benign |
Het |
|
| Other mutations in Col22a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Col22a1
|
APN |
15 |
71,732,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00434:Col22a1
|
APN |
15 |
71,878,524 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00721:Col22a1
|
APN |
15 |
71,718,026 (GRCm39) |
missense |
unknown |
|
|
IGL00902:Col22a1
|
APN |
15 |
71,836,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01311:Col22a1
|
APN |
15 |
71,845,486 (GRCm39) |
splice site |
probably benign |
|
|
IGL01329:Col22a1
|
APN |
15 |
71,778,889 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01527:Col22a1
|
APN |
15 |
71,778,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01870:Col22a1
|
APN |
15 |
71,824,377 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02002:Col22a1
|
APN |
15 |
71,682,946 (GRCm39) |
splice site |
probably benign |
|
|
IGL02248:Col22a1
|
APN |
15 |
71,671,297 (GRCm39) |
missense |
unknown |
|
|
IGL02322:Col22a1
|
APN |
15 |
71,694,502 (GRCm39) |
missense |
unknown |
|
|
IGL02472:Col22a1
|
APN |
15 |
71,699,602 (GRCm39) |
splice site |
probably benign |
|
|
IGL02685:Col22a1
|
APN |
15 |
71,673,764 (GRCm39) |
missense |
unknown |
|
|
IGL02888:Col22a1
|
APN |
15 |
71,718,068 (GRCm39) |
missense |
unknown |
|
|
IGL02971:Col22a1
|
APN |
15 |
71,878,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03175:Col22a1
|
APN |
15 |
71,840,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03240:Col22a1
|
APN |
15 |
71,679,777 (GRCm39) |
missense |
unknown |
|
|
R0083:Col22a1
|
UTSW |
15 |
71,762,346 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0449:Col22a1
|
UTSW |
15 |
71,834,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0508:Col22a1
|
UTSW |
15 |
71,805,262 (GRCm39) |
missense |
unknown |
|
|
R0944:Col22a1
|
UTSW |
15 |
71,753,511 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1289:Col22a1
|
UTSW |
15 |
71,709,226 (GRCm39) |
missense |
unknown |
|
|
R1436:Col22a1
|
UTSW |
15 |
71,794,806 (GRCm39) |
splice site |
probably benign |
|
|
R1439:Col22a1
|
UTSW |
15 |
71,824,226 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Col22a1
|
UTSW |
15 |
71,693,780 (GRCm39) |
missense |
unknown |
|
|
R1680:Col22a1
|
UTSW |
15 |
71,671,210 (GRCm39) |
missense |
unknown |
|
|
R1715:Col22a1
|
UTSW |
15 |
71,878,830 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1742:Col22a1
|
UTSW |
15 |
71,673,762 (GRCm39) |
missense |
unknown |
|
|
R1745:Col22a1
|
UTSW |
15 |
71,878,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Col22a1
|
UTSW |
15 |
71,879,025 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1932:Col22a1
|
UTSW |
15 |
71,741,989 (GRCm39) |
missense |
unknown |
|
|
R2125:Col22a1
|
UTSW |
15 |
71,720,426 (GRCm39) |
missense |
unknown |
|
|
R2126:Col22a1
|
UTSW |
15 |
71,729,102 (GRCm39) |
nonsense |
probably null |
|
|
R2137:Col22a1
|
UTSW |
15 |
71,878,797 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2860:Col22a1
|
UTSW |
15 |
71,687,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2861:Col22a1
|
UTSW |
15 |
71,687,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2862:Col22a1
|
UTSW |
15 |
71,687,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3704:Col22a1
|
UTSW |
15 |
71,842,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Col22a1
|
UTSW |
15 |
71,845,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3940:Col22a1
|
UTSW |
15 |
71,853,782 (GRCm39) |
nonsense |
probably null |
|
|
R3950:Col22a1
|
UTSW |
15 |
71,849,207 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4240:Col22a1
|
UTSW |
15 |
71,878,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4531:Col22a1
|
UTSW |
15 |
71,878,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Col22a1
|
UTSW |
15 |
71,836,511 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4604:Col22a1
|
UTSW |
15 |
71,824,188 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4654:Col22a1
|
UTSW |
15 |
71,845,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4782:Col22a1
|
UTSW |
15 |
71,673,774 (GRCm39) |
missense |
unknown |
|
|
R4847:Col22a1
|
UTSW |
15 |
71,671,348 (GRCm39) |
missense |
unknown |
|
|
R4980:Col22a1
|
UTSW |
15 |
71,673,792 (GRCm39) |
missense |
unknown |
|
|
R4981:Col22a1
|
UTSW |
15 |
71,732,915 (GRCm39) |
missense |
unknown |
|
|
R4996:Col22a1
|
UTSW |
15 |
71,879,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5007:Col22a1
|
UTSW |
15 |
71,816,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Col22a1
|
UTSW |
15 |
71,671,186 (GRCm39) |
missense |
unknown |
|
|
R5197:Col22a1
|
UTSW |
15 |
71,881,255 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5292:Col22a1
|
UTSW |
15 |
71,842,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Col22a1
|
UTSW |
15 |
71,693,798 (GRCm39) |
missense |
unknown |
|
|
R5480:Col22a1
|
UTSW |
15 |
71,836,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5627:Col22a1
|
UTSW |
15 |
71,853,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5828:Col22a1
|
UTSW |
15 |
71,881,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5927:Col22a1
|
UTSW |
15 |
71,878,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Col22a1
|
UTSW |
15 |
71,845,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Col22a1
|
UTSW |
15 |
71,845,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6288:Col22a1
|
UTSW |
15 |
71,766,718 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6482:Col22a1
|
UTSW |
15 |
71,762,338 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6497:Col22a1
|
UTSW |
15 |
71,762,425 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6579:Col22a1
|
UTSW |
15 |
71,753,502 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6643:Col22a1
|
UTSW |
15 |
71,693,886 (GRCm39) |
splice site |
probably null |
|
|
R6663:Col22a1
|
UTSW |
15 |
71,691,908 (GRCm39) |
missense |
unknown |
|
|
R7179:Col22a1
|
UTSW |
15 |
71,805,262 (GRCm39) |
missense |
unknown |
|
|
R7215:Col22a1
|
UTSW |
15 |
71,842,181 (GRCm39) |
nonsense |
probably null |
|
|
R7216:Col22a1
|
UTSW |
15 |
71,845,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Col22a1
|
UTSW |
15 |
71,671,248 (GRCm39) |
nonsense |
probably null |
|
|
R7585:Col22a1
|
UTSW |
15 |
71,764,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Col22a1
|
UTSW |
15 |
71,845,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Col22a1
|
UTSW |
15 |
71,824,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7921:Col22a1
|
UTSW |
15 |
71,853,811 (GRCm39) |
splice site |
probably null |
|
|
R8205:Col22a1
|
UTSW |
15 |
71,732,918 (GRCm39) |
missense |
unknown |
|
|
R8769:Col22a1
|
UTSW |
15 |
71,878,571 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8780:Col22a1
|
UTSW |
15 |
71,878,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8827:Col22a1
|
UTSW |
15 |
71,774,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8843:Col22a1
|
UTSW |
15 |
71,878,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Col22a1
|
UTSW |
15 |
71,845,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9031:Col22a1
|
UTSW |
15 |
71,753,523 (GRCm39) |
nonsense |
probably null |
|
|
R9036:Col22a1
|
UTSW |
15 |
71,762,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Col22a1
|
UTSW |
15 |
71,691,929 (GRCm39) |
missense |
unknown |
|
|
R9281:Col22a1
|
UTSW |
15 |
71,732,920 (GRCm39) |
missense |
unknown |
|
|
R9386:Col22a1
|
UTSW |
15 |
71,853,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Col22a1
|
UTSW |
15 |
71,845,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Col22a1
|
UTSW |
15 |
71,837,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9727:Col22a1
|
UTSW |
15 |
71,849,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Col22a1
|
UTSW |
15 |
71,718,049 (GRCm39) |
missense |
unknown |
|
|
X0066:Col22a1
|
UTSW |
15 |
71,673,728 (GRCm39) |
missense |
unknown |
|
|
Y5406:Col22a1
|
UTSW |
15 |
71,671,364 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col22a1
|
UTSW |
15 |
71,786,969 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCCCCTAGTTAAAGCCTCTCG -3'
(R):5'- GGAAGCCCCTCTAGTTCTTGTTGC -3'
Sequencing Primer
(F):5'- AGTTAAAGCCTCTCGAACTGTC -3'
(R):5'- GACTCATAGAAAGGCTTACTTTCCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation