Incidental Mutation 'R7404:Col14a1'
| ID |
574458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col14a1
|
| Ensembl Gene |
ENSMUSG00000022371 |
| Gene Name |
collagen, type XIV, alpha 1 |
| Synonyms |
5730412L22Rik |
| MMRRC Submission |
045486-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 55252024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 560
(S560*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023053]
[ENSMUST00000110217]
[ENSMUST00000110221]
|
| AlphaFold |
Q80X19 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023053
AA Change: S560*
|
| SMART Domains |
Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: S560*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
818 |
6.2e-7 |
SMART |
|
FN3
|
830 |
909 |
1.45e-7 |
SMART |
|
FN3
|
920 |
999 |
3.59e0 |
SMART |
|
low complexity region
|
1010 |
1022 |
N/A |
INTRINSIC |
|
VWA
|
1031 |
1211 |
2.02e-59 |
SMART |
|
TSPN
|
1230 |
1425 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1461 |
1515 |
2.9e-8 |
PFAM |
|
Pfam:Collagen
|
1513 |
1571 |
6.3e-9 |
PFAM |
|
Pfam:Collagen
|
1555 |
1615 |
8.5e-10 |
PFAM |
|
Pfam:Collagen
|
1653 |
1709 |
7.6e-10 |
PFAM |
|
Pfam:Collagen
|
1707 |
1762 |
2.6e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110217
AA Change: S560*
|
| SMART Domains |
Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: S560*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
819 |
5.4e-7 |
SMART |
|
FN3
|
831 |
910 |
1.45e-7 |
SMART |
|
FN3
|
921 |
1000 |
3.59e0 |
SMART |
|
low complexity region
|
1011 |
1023 |
N/A |
INTRINSIC |
|
VWA
|
1032 |
1212 |
2.02e-59 |
SMART |
|
TSPN
|
1231 |
1426 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1462 |
1516 |
2.5e-8 |
PFAM |
|
Pfam:Collagen
|
1514 |
1572 |
5.4e-9 |
PFAM |
|
Pfam:Collagen
|
1556 |
1616 |
7.3e-10 |
PFAM |
|
Pfam:Collagen
|
1654 |
1710 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110221
AA Change: S560*
|
| SMART Domains |
Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: S560*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FN3
|
30 |
108 |
5.4e-7 |
SMART |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
VWA
|
157 |
336 |
9.5e-56 |
SMART |
|
FN3
|
354 |
434 |
3.82e-7 |
SMART |
|
FN3
|
444 |
522 |
3.1e-7 |
SMART |
|
FN3
|
536 |
613 |
5.07e-12 |
SMART |
|
FN3
|
625 |
704 |
3.1e-7 |
SMART |
|
FN3
|
736 |
815 |
7.12e-7 |
SMART |
|
FN3
|
827 |
906 |
1.45e-7 |
SMART |
|
FN3
|
917 |
996 |
3.59e0 |
SMART |
|
low complexity region
|
1007 |
1019 |
N/A |
INTRINSIC |
|
VWA
|
1028 |
1208 |
2.02e-59 |
SMART |
|
TSPN
|
1227 |
1422 |
1.19e-66 |
SMART |
|
Pfam:Collagen
|
1458 |
1512 |
8.2e-9 |
PFAM |
|
Pfam:Collagen
|
1510 |
1568 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
1552 |
1612 |
2.4e-10 |
PFAM |
|
Pfam:Collagen
|
1650 |
1706 |
2.2e-10 |
PFAM |
|
Pfam:Collagen
|
1704 |
1759 |
7.5e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (92/93) |
| 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 XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,955,099 (GRCm39) |
A297T |
probably damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,275,118 (GRCm39) |
S547C |
probably damaging |
Het |
| Ankrd63 |
G |
C |
2: 118,533,793 (GRCm39) |
R43G |
unknown |
Het |
| Asah2 |
T |
C |
19: 32,035,254 (GRCm39) |
T24A |
probably benign |
Het |
| Asb17 |
G |
A |
3: 153,550,447 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
C |
T |
4: 43,342,640 (GRCm39) |
T437I |
probably benign |
Het |
| Bbs2 |
T |
C |
8: 94,808,992 (GRCm39) |
D311G |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,946,789 (GRCm39) |
T2851I |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,835,693 (GRCm39) |
W266R |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,753,497 (GRCm39) |
T1317M |
possibly damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,352,278 (GRCm39) |
V334E |
possibly damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,923,635 (GRCm39) |
D336V |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,867,455 (GRCm39) |
T221A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 118,068,543 (GRCm39) |
T1605K |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,705,223 (GRCm39) |
V2412A |
possibly damaging |
Het |
| Ect2l |
T |
A |
10: 18,035,529 (GRCm39) |
D524V |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,872 (GRCm39) |
E223G |
possibly damaging |
Het |
| Ephb2 |
A |
T |
4: 136,498,524 (GRCm39) |
M185K |
probably damaging |
Het |
| Fcer1a |
T |
C |
1: 173,049,083 (GRCm39) |
K243E |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,800,932 (GRCm39) |
I1326N |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,045,566 (GRCm39) |
V45A |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,727,380 (GRCm39) |
E413V |
possibly damaging |
Het |
| Frs3 |
T |
C |
17: 48,013,651 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
A |
G |
11: 53,024,898 (GRCm39) |
T257A |
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,450,778 (GRCm39) |
K477M |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,622 (GRCm39) |
I51K |
probably damaging |
Het |
| H1f0 |
T |
A |
15: 78,913,080 (GRCm39) |
Y53* |
probably null |
Het |
| Hephl1 |
A |
G |
9: 14,981,047 (GRCm39) |
V795A |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,596,510 (GRCm39) |
D1775E |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,100,168 (GRCm39) |
D338G |
possibly damaging |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,534 (GRCm39) |
Y255F |
probably benign |
Het |
| Hspa9 |
T |
C |
18: 35,076,329 (GRCm39) |
N328D |
possibly damaging |
Het |
| Hvcn1 |
T |
A |
5: 122,375,748 (GRCm39) |
I100N |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,556,494 (GRCm39) |
S748N |
possibly damaging |
Het |
| Katnip |
A |
T |
7: 125,464,434 (GRCm39) |
N1267I |
probably damaging |
Het |
| Kcnma1 |
G |
T |
14: 24,052,902 (GRCm39) |
T180K |
unknown |
Het |
| Kctd16 |
A |
G |
18: 40,391,826 (GRCm39) |
D138G |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,830,092 (GRCm39) |
Y605H |
probably benign |
Het |
| Kmt2d |
T |
A |
15: 98,743,376 (GRCm39) |
Q3928L |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,364,782 (GRCm39) |
R1179C |
probably damaging |
Het |
| Layn |
T |
A |
9: 50,968,670 (GRCm39) |
I358F |
possibly damaging |
Het |
| Lrig1 |
G |
A |
6: 94,603,452 (GRCm39) |
T232M |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,418,577 (GRCm39) |
T38A |
|
Het |
| Map3k14 |
A |
G |
11: 103,129,918 (GRCm39) |
V333A |
probably benign |
Het |
| Med13 |
T |
C |
11: 86,177,272 (GRCm39) |
D1608G |
possibly damaging |
Het |
| Mrps31 |
T |
G |
8: 22,911,429 (GRCm39) |
S224A |
probably benign |
Het |
| Msh6 |
G |
T |
17: 88,282,548 (GRCm39) |
|
|
Het |
| Ncapd3 |
A |
G |
9: 26,978,315 (GRCm39) |
D838G |
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 70,987,919 (GRCm39) |
E1184* |
probably null |
Het |
| Npat |
T |
A |
9: 53,466,233 (GRCm39) |
|
probably null |
Het |
| Nup210 |
A |
T |
6: 91,050,227 (GRCm39) |
I414N |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,419 (GRCm39) |
L130H |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,181 (GRCm39) |
V218E |
possibly damaging |
Het |
| Or5b122 |
T |
A |
19: 13,562,752 (GRCm39) |
I28N |
possibly damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,603 (GRCm39) |
T166A |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,163 (GRCm39) |
L18P |
probably damaging |
Het |
| Or8b12c |
A |
T |
9: 37,715,257 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or8h7 |
A |
C |
2: 86,721,217 (GRCm39) |
L101V |
probably benign |
Het |
| Otud7b |
G |
C |
3: 96,043,936 (GRCm39) |
|
probably null |
Het |
| Phf11d |
A |
C |
14: 59,596,942 (GRCm39) |
W86G |
probably benign |
Het |
| Pik3c2b |
T |
A |
1: 133,018,444 (GRCm39) |
S964T |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,344 (GRCm39) |
Y61C |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,023,901 (GRCm39) |
V687I |
probably benign |
Het |
| Poglut1 |
T |
G |
16: 38,358,284 (GRCm39) |
Y208S |
possibly damaging |
Het |
| Pou1f1 |
T |
A |
16: 65,330,749 (GRCm39) |
L253H |
probably damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,738,955 (GRCm39) |
A166T |
unknown |
Het |
| Rhbdl3 |
C |
T |
11: 80,237,659 (GRCm39) |
S297L |
probably damaging |
Het |
| Rxra |
A |
T |
2: 27,631,866 (GRCm39) |
N179I |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,750,506 (GRCm39) |
E1922K |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,499,211 (GRCm39) |
Y668C |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,358,927 (GRCm39) |
Y120C |
probably damaging |
Het |
| Sec61b |
G |
T |
4: 47,483,047 (GRCm39) |
K92N |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,296,866 (GRCm39) |
Y1074* |
probably null |
Het |
| Slc13a3 |
T |
C |
2: 165,275,984 (GRCm39) |
N254S |
possibly damaging |
Het |
| Slc17a7 |
T |
A |
7: 44,822,354 (GRCm39) |
Y397N |
probably benign |
Het |
| Slc25a3 |
A |
G |
10: 90,952,902 (GRCm39) |
V333A |
possibly damaging |
Het |
| Slc7a8 |
A |
T |
14: 54,964,283 (GRCm39) |
V390E |
probably damaging |
Het |
| Sorbs2 |
G |
A |
8: 46,212,233 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,621,650 (GRCm39) |
N948D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,225,066 (GRCm39) |
T584S |
probably benign |
Het |
| Tec |
A |
T |
5: 72,920,961 (GRCm39) |
D471E |
probably damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,898,038 (GRCm39) |
A430V |
probably benign |
Het |
| Tmcc2 |
A |
T |
1: 132,288,759 (GRCm39) |
D309E |
probably damaging |
Het |
| Tmem82 |
G |
A |
4: 141,344,742 (GRCm39) |
A67V |
possibly damaging |
Het |
| Ttc23l |
T |
C |
15: 10,551,663 (GRCm39) |
Q21R |
probably damaging |
Het |
| Ubl3 |
A |
G |
5: 148,448,764 (GRCm39) |
F26L |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,045,014 (GRCm39) |
E1088G |
unknown |
Het |
| Usp9y |
T |
A |
Y: 1,341,780 (GRCm39) |
I1362F |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,318 (GRCm39) |
|
probably null |
Het |
| Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,251,153 (GRCm39) |
V1248D |
probably damaging |
Het |
| Zfp12 |
T |
A |
5: 143,226,099 (GRCm39) |
V56D |
probably damaging |
Het |
|
| Other mutations in Col14a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Col14a1
|
APN |
15 |
55,274,981 (GRCm39) |
missense |
unknown |
|
|
IGL01290:Col14a1
|
APN |
15 |
55,286,903 (GRCm39) |
missense |
unknown |
|
|
IGL01300:Col14a1
|
APN |
15 |
55,331,372 (GRCm39) |
missense |
unknown |
|
|
IGL01505:Col14a1
|
APN |
15 |
55,318,619 (GRCm39) |
missense |
unknown |
|
|
IGL01533:Col14a1
|
APN |
15 |
55,284,236 (GRCm39) |
missense |
unknown |
|
|
IGL01563:Col14a1
|
APN |
15 |
55,351,337 (GRCm39) |
missense |
unknown |
|
|
IGL01650:Col14a1
|
APN |
15 |
55,270,089 (GRCm39) |
missense |
unknown |
|
|
IGL01659:Col14a1
|
APN |
15 |
55,309,568 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01670:Col14a1
|
APN |
15 |
55,192,662 (GRCm39) |
missense |
unknown |
|
|
IGL01760:Col14a1
|
APN |
15 |
55,286,855 (GRCm39) |
missense |
unknown |
|
|
IGL01803:Col14a1
|
APN |
15 |
55,282,210 (GRCm39) |
missense |
unknown |
|
|
IGL01966:Col14a1
|
APN |
15 |
55,312,121 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01990:Col14a1
|
APN |
15 |
55,226,859 (GRCm39) |
missense |
unknown |
|
|
IGL02124:Col14a1
|
APN |
15 |
55,327,099 (GRCm39) |
missense |
unknown |
|
|
IGL02138:Col14a1
|
APN |
15 |
55,284,231 (GRCm39) |
missense |
unknown |
|
|
IGL02192:Col14a1
|
APN |
15 |
55,225,798 (GRCm39) |
missense |
unknown |
|
|
IGL02326:Col14a1
|
APN |
15 |
55,282,193 (GRCm39) |
missense |
unknown |
|
|
IGL02335:Col14a1
|
APN |
15 |
55,327,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL02407:Col14a1
|
APN |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL02486:Col14a1
|
APN |
15 |
55,252,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02537:Col14a1
|
APN |
15 |
55,208,310 (GRCm39) |
nonsense |
probably null |
|
|
IGL02567:Col14a1
|
APN |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02643:Col14a1
|
APN |
15 |
55,284,258 (GRCm39) |
missense |
unknown |
|
|
IGL02669:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL02673:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL02674:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
|
IGL03201:Col14a1
|
APN |
15 |
55,272,300 (GRCm39) |
missense |
unknown |
|
|
IGL03334:Col14a1
|
APN |
15 |
55,312,217 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03370:Col14a1
|
APN |
15 |
55,351,937 (GRCm39) |
splice site |
probably null |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,273,600 (GRCm39) |
missense |
unknown |
|
|
IGL03385:Col14a1
|
APN |
15 |
55,335,104 (GRCm39) |
missense |
unknown |
|
|
PIT4131001:Col14a1
|
UTSW |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
|
R0173:Col14a1
|
UTSW |
15 |
55,351,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Col14a1
|
UTSW |
15 |
55,271,264 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Col14a1
|
UTSW |
15 |
55,309,655 (GRCm39) |
unclassified |
probably benign |
|
|
R0468:Col14a1
|
UTSW |
15 |
55,252,042 (GRCm39) |
missense |
unknown |
|
|
R0652:Col14a1
|
UTSW |
15 |
55,208,278 (GRCm39) |
missense |
unknown |
|
|
R0692:Col14a1
|
UTSW |
15 |
55,205,134 (GRCm39) |
missense |
unknown |
|
|
R0745:Col14a1
|
UTSW |
15 |
55,201,813 (GRCm39) |
missense |
unknown |
|
|
R1006:Col14a1
|
UTSW |
15 |
55,383,331 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1331:Col14a1
|
UTSW |
15 |
55,273,584 (GRCm39) |
missense |
unknown |
|
|
R1537:Col14a1
|
UTSW |
15 |
55,244,163 (GRCm39) |
missense |
unknown |
|
|
R1557:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
|
R1721:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1737:Col14a1
|
UTSW |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1837:Col14a1
|
UTSW |
15 |
55,245,891 (GRCm39) |
missense |
unknown |
|
|
R1867:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1868:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
|
R1991:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
|
R2020:Col14a1
|
UTSW |
15 |
55,309,577 (GRCm39) |
unclassified |
probably benign |
|
|
R2103:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
|
R2116:Col14a1
|
UTSW |
15 |
55,271,160 (GRCm39) |
missense |
unknown |
|
|
R2163:Col14a1
|
UTSW |
15 |
55,308,041 (GRCm39) |
unclassified |
probably benign |
|
|
R2207:Col14a1
|
UTSW |
15 |
55,327,082 (GRCm39) |
missense |
unknown |
|
|
R2215:Col14a1
|
UTSW |
15 |
55,244,238 (GRCm39) |
missense |
unknown |
|
|
R2264:Col14a1
|
UTSW |
15 |
55,330,086 (GRCm39) |
splice site |
probably null |
|
|
R2383:Col14a1
|
UTSW |
15 |
55,310,913 (GRCm39) |
unclassified |
probably benign |
|
|
R2397:Col14a1
|
UTSW |
15 |
55,201,835 (GRCm39) |
missense |
unknown |
|
|
R2422:Col14a1
|
UTSW |
15 |
55,313,318 (GRCm39) |
missense |
unknown |
|
|
R3793:Col14a1
|
UTSW |
15 |
55,226,909 (GRCm39) |
missense |
unknown |
|
|
R4082:Col14a1
|
UTSW |
15 |
55,300,429 (GRCm39) |
missense |
unknown |
|
|
R4112:Col14a1
|
UTSW |
15 |
55,226,955 (GRCm39) |
missense |
unknown |
|
|
R4519:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
|
R4628:Col14a1
|
UTSW |
15 |
55,313,229 (GRCm39) |
nonsense |
probably null |
|
|
R4692:Col14a1
|
UTSW |
15 |
55,286,864 (GRCm39) |
missense |
unknown |
|
|
R4696:Col14a1
|
UTSW |
15 |
55,235,998 (GRCm39) |
missense |
unknown |
|
|
R4749:Col14a1
|
UTSW |
15 |
55,315,732 (GRCm39) |
missense |
unknown |
|
|
R5324:Col14a1
|
UTSW |
15 |
55,201,841 (GRCm39) |
missense |
unknown |
|
|
R5382:Col14a1
|
UTSW |
15 |
55,225,832 (GRCm39) |
missense |
unknown |
|
|
R5634:Col14a1
|
UTSW |
15 |
55,381,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Col14a1
|
UTSW |
15 |
55,286,908 (GRCm39) |
missense |
unknown |
|
|
R5828:Col14a1
|
UTSW |
15 |
55,300,372 (GRCm39) |
missense |
unknown |
|
|
R5873:Col14a1
|
UTSW |
15 |
55,309,182 (GRCm39) |
unclassified |
probably benign |
|
|
R5966:Col14a1
|
UTSW |
15 |
55,315,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6106:Col14a1
|
UTSW |
15 |
55,383,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Col14a1
|
UTSW |
15 |
55,244,246 (GRCm39) |
missense |
unknown |
|
|
R6319:Col14a1
|
UTSW |
15 |
55,379,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6475:Col14a1
|
UTSW |
15 |
55,309,218 (GRCm39) |
unclassified |
probably benign |
|
|
R6540:Col14a1
|
UTSW |
15 |
55,235,977 (GRCm39) |
missense |
unknown |
|
|
R6893:Col14a1
|
UTSW |
15 |
55,308,044 (GRCm39) |
unclassified |
probably benign |
|
|
R6992:Col14a1
|
UTSW |
15 |
55,274,958 (GRCm39) |
splice site |
probably null |
|
|
R7284:Col14a1
|
UTSW |
15 |
55,381,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
|
R7656:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
|
R7715:Col14a1
|
UTSW |
15 |
55,351,379 (GRCm39) |
missense |
unknown |
|
|
R7841:Col14a1
|
UTSW |
15 |
55,245,876 (GRCm39) |
missense |
unknown |
|
|
R7861:Col14a1
|
UTSW |
15 |
55,308,012 (GRCm39) |
missense |
unknown |
|
|
R7866:Col14a1
|
UTSW |
15 |
55,252,016 (GRCm39) |
missense |
unknown |
|
|
R7902:Col14a1
|
UTSW |
15 |
55,364,832 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8041:Col14a1
|
UTSW |
15 |
55,318,626 (GRCm39) |
missense |
unknown |
|
|
R8159:Col14a1
|
UTSW |
15 |
55,291,324 (GRCm39) |
missense |
unknown |
|
|
R8224:Col14a1
|
UTSW |
15 |
55,271,137 (GRCm39) |
missense |
unknown |
|
|
R8282:Col14a1
|
UTSW |
15 |
55,284,276 (GRCm39) |
missense |
unknown |
|
|
R8729:Col14a1
|
UTSW |
15 |
55,310,893 (GRCm39) |
nonsense |
probably null |
|
|
R8737:Col14a1
|
UTSW |
15 |
55,318,706 (GRCm39) |
nonsense |
probably null |
|
|
R8871:Col14a1
|
UTSW |
15 |
55,245,958 (GRCm39) |
missense |
unknown |
|
|
R9069:Col14a1
|
UTSW |
15 |
55,251,990 (GRCm39) |
missense |
unknown |
|
|
R9081:Col14a1
|
UTSW |
15 |
55,291,387 (GRCm39) |
missense |
unknown |
|
|
R9088:Col14a1
|
UTSW |
15 |
55,226,923 (GRCm39) |
missense |
unknown |
|
|
R9113:Col14a1
|
UTSW |
15 |
55,201,825 (GRCm39) |
missense |
unknown |
|
|
R9193:Col14a1
|
UTSW |
15 |
55,242,964 (GRCm39) |
missense |
unknown |
|
|
R9274:Col14a1
|
UTSW |
15 |
55,381,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9288:Col14a1
|
UTSW |
15 |
55,286,918 (GRCm39) |
missense |
unknown |
|
|
R9320:Col14a1
|
UTSW |
15 |
55,364,780 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9602:Col14a1
|
UTSW |
15 |
55,351,345 (GRCm39) |
missense |
unknown |
|
|
R9620:Col14a1
|
UTSW |
15 |
55,225,781 (GRCm39) |
missense |
unknown |
|
|
R9629:Col14a1
|
UTSW |
15 |
55,382,545 (GRCm39) |
missense |
|
|
|
X0023:Col14a1
|
UTSW |
15 |
55,286,843 (GRCm39) |
missense |
unknown |
|
|
X0063:Col14a1
|
UTSW |
15 |
55,273,611 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col14a1
|
UTSW |
15 |
55,235,966 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGAATGTCAAGGGAGC -3'
(R):5'- CTTTCAGAGTCAGAAAAGGGGC -3'
Sequencing Primer
(F):5'- CTCTGAATGTCAAGGGAGCTGTTTC -3'
(R):5'- CGCTTAGCTTGTAGAGACTGCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation