Incidental Mutation 'R9181:Col15a1'
| ID |
697014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R9181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to C
at 47288200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
[ENSMUST00000107731]
[ENSMUST00000140413]
[ENSMUST00000146967]
|
| AlphaFold |
O35206 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082303
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
TSPN
|
40 |
228 |
2.53e-56 |
SMART |
|
LamG
|
89 |
227 |
1.7e-7 |
SMART |
|
low complexity region
|
236 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
567 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
603 |
663 |
1.4e-10 |
PFAM |
|
Pfam:Collagen
|
650 |
719 |
2.1e-9 |
PFAM |
|
low complexity region
|
722 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
759 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
782 |
832 |
2.7e-10 |
PFAM |
|
Pfam:Collagen
|
838 |
894 |
5.1e-10 |
PFAM |
|
low complexity region
|
965 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1020 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
1087 |
1164 |
9.3e-15 |
PFAM |
|
Pfam:Endostatin
|
1148 |
1345 |
1.4e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102917
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
TSPN
|
40 |
228 |
2.53e-56 |
SMART |
|
LamG
|
89 |
227 |
1.7e-7 |
SMART |
|
low complexity region
|
236 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
567 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
603 |
666 |
5.6e-10 |
PFAM |
|
Pfam:Collagen
|
659 |
720 |
3.1e-10 |
PFAM |
|
low complexity region
|
737 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
781 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
804 |
854 |
9.5e-10 |
PFAM |
|
Pfam:Collagen
|
860 |
916 |
1.8e-9 |
PFAM |
|
low complexity region
|
987 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1109 |
N/A |
INTRINSIC |
|
Pfam:Endostatin
|
1112 |
1362 |
2.8e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107731
|
| SMART Domains |
Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
6 |
81 |
6.5e-9 |
PFAM |
|
Pfam:Collagen
|
48 |
102 |
3.8e-8 |
PFAM |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
196 |
258 |
4.1e-8 |
PFAM |
|
Pfam:Endostatin
|
275 |
355 |
2.5e-15 |
PFAM |
|
Pfam:Endostatin
|
336 |
533 |
2.8e-98 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140413
|
| SMART Domains |
Protein: ENSMUSP00000119292
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
27 |
121 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146967
|
| SMART Domains |
Protein: ENSMUSP00000118637
Gene: ENSMUSG00000028339
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
2 |
55 |
6.3e-11 |
PFAM |
|
Pfam:Collagen
|
96 |
141 |
2.9e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| 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 XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
G |
T |
5: 105,121,962 (GRCm39) |
D138E |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,760,307 (GRCm39) |
I21K |
probably damaging |
Het |
| Adam30 |
C |
G |
3: 98,070,194 (GRCm39) |
P676A |
probably benign |
Het |
| Ankrd28 |
A |
C |
14: 31,470,627 (GRCm39) |
H145Q |
probably damaging |
Het |
| Ap3m2 |
A |
G |
8: 23,289,774 (GRCm39) |
Y110H |
probably damaging |
Het |
| Apoc4 |
A |
G |
7: 19,412,665 (GRCm39) |
S27P |
possibly damaging |
Het |
| Bbs1 |
A |
C |
19: 4,941,070 (GRCm39) |
L548R |
possibly damaging |
Het |
| Cfap99 |
A |
T |
5: 34,471,602 (GRCm39) |
D346V |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,189,870 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,703,612 (GRCm39) |
K436E |
possibly damaging |
Het |
| Dbf4 |
A |
G |
5: 8,462,206 (GRCm39) |
V105A |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,617,393 (GRCm39) |
V129E |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,181,194 (GRCm39) |
V1027A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,231,818 (GRCm39) |
I3137N |
probably benign |
Het |
| F5 |
A |
G |
1: 164,019,895 (GRCm39) |
D790G |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,400 (GRCm39) |
S575P |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,021,035 (GRCm39) |
A1051T |
probably benign |
Het |
| Gsta4 |
A |
G |
9: 78,105,597 (GRCm39) |
Y9C |
probably damaging |
Het |
| H2-M3 |
C |
A |
17: 37,583,172 (GRCm39) |
A211E |
probably damaging |
Het |
| Ifna1 |
A |
T |
4: 88,768,453 (GRCm39) |
M44L |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,122,283 (GRCm39) |
D242V |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,492,543 (GRCm39) |
Q199K |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,804,718 (GRCm39) |
L132H |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,803,241 (GRCm39) |
N173S |
probably benign |
Het |
| Mettl25b |
A |
G |
3: 87,835,392 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,123 (GRCm39) |
N446Y |
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,485,394 (GRCm39) |
M1T |
probably null |
Het |
| Mocs1 |
T |
A |
17: 49,756,801 (GRCm39) |
M261K |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,108 (GRCm39) |
F457L |
probably damaging |
Het |
| Nlrp4e |
C |
T |
7: 23,061,270 (GRCm39) |
R954* |
probably null |
Het |
| Or4s2 |
T |
C |
2: 88,473,348 (GRCm39) |
M79T |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,141,109 (GRCm39) |
I261M |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,318 (GRCm39) |
I1576N |
probably damaging |
Het |
| Plekhg6 |
A |
C |
6: 125,355,854 (GRCm39) |
|
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,283,365 (GRCm39) |
L388P |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,104,421 (GRCm39) |
I818N |
probably damaging |
Het |
| Pramel46 |
A |
T |
5: 95,418,414 (GRCm39) |
V194D |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,722 (GRCm39) |
Y578H |
probably damaging |
Het |
| Retnlb |
A |
G |
16: 48,639,084 (GRCm39) |
D95G |
probably damaging |
Het |
| Rufy2 |
A |
T |
10: 62,836,166 (GRCm39) |
Y365F |
possibly damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,814 (GRCm39) |
T949A |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,090,833 (GRCm39) |
R1312S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,063,994 (GRCm39) |
T7142A |
probably damaging |
Het |
| Tert |
A |
T |
13: 73,785,294 (GRCm39) |
|
probably benign |
Het |
| Tpbgl |
A |
T |
7: 99,274,776 (GRCm39) |
D360E |
probably damaging |
Het |
| Traj13 |
G |
A |
14: 54,443,248 (GRCm39) |
V17I |
unknown |
Het |
| Trim13 |
G |
A |
14: 61,842,046 (GRCm39) |
R21Q |
possibly damaging |
Het |
| Wdr36 |
T |
C |
18: 32,981,382 (GRCm39) |
V357A |
possibly damaging |
Het |
| Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
| Zfp971 |
T |
C |
2: 177,674,736 (GRCm39) |
F112L |
probably damaging |
Het |
| Znfx1 |
C |
T |
2: 166,879,738 (GRCm39) |
C1546Y |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,137 (GRCm39) |
E1413V |
probably benign |
Het |
| Zscan4c |
A |
G |
7: 10,743,741 (GRCm39) |
M447V |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,334,818 (GRCm39) |
D541E |
probably damaging |
Het |
|
| Other mutations in Col15a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Col15a1
|
APN |
4 |
47,208,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01561:Col15a1
|
APN |
4 |
47,312,118 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01750:Col15a1
|
APN |
4 |
47,303,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Col15a1
|
APN |
4 |
47,253,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL02158:Col15a1
|
APN |
4 |
47,300,606 (GRCm39) |
splice site |
probably null |
|
|
IGL02268:Col15a1
|
APN |
4 |
47,245,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02325:Col15a1
|
APN |
4 |
47,289,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Col15a1
|
APN |
4 |
47,279,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02699:Col15a1
|
APN |
4 |
47,284,471 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03167:Col15a1
|
APN |
4 |
47,282,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03174:Col15a1
|
APN |
4 |
47,282,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Col15a1
|
UTSW |
4 |
47,262,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0299:Col15a1
|
UTSW |
4 |
47,262,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0499:Col15a1
|
UTSW |
4 |
47,262,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0567:Col15a1
|
UTSW |
4 |
47,293,231 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0607:Col15a1
|
UTSW |
4 |
47,282,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0992:Col15a1
|
UTSW |
4 |
47,300,491 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1165:Col15a1
|
UTSW |
4 |
47,257,275 (GRCm39) |
splice site |
probably benign |
|
|
R1191:Col15a1
|
UTSW |
4 |
47,254,083 (GRCm39) |
nonsense |
probably null |
|
|
R1852:Col15a1
|
UTSW |
4 |
47,299,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2349:Col15a1
|
UTSW |
4 |
47,306,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2512:Col15a1
|
UTSW |
4 |
47,245,868 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2517:Col15a1
|
UTSW |
4 |
47,208,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2895:Col15a1
|
UTSW |
4 |
47,312,091 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3688:Col15a1
|
UTSW |
4 |
47,258,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3848:Col15a1
|
UTSW |
4 |
47,289,374 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4430:Col15a1
|
UTSW |
4 |
47,245,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Col15a1
|
UTSW |
4 |
47,257,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Col15a1
|
UTSW |
4 |
47,262,997 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4812:Col15a1
|
UTSW |
4 |
47,262,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4922:Col15a1
|
UTSW |
4 |
47,258,719 (GRCm39) |
missense |
probably benign |
|
|
R5233:Col15a1
|
UTSW |
4 |
47,296,112 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5602:Col15a1
|
UTSW |
4 |
47,312,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Col15a1
|
UTSW |
4 |
47,280,865 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5910:Col15a1
|
UTSW |
4 |
47,289,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Col15a1
|
UTSW |
4 |
47,300,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5974:Col15a1
|
UTSW |
4 |
47,258,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5985:Col15a1
|
UTSW |
4 |
47,284,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6010:Col15a1
|
UTSW |
4 |
47,245,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6720:Col15a1
|
UTSW |
4 |
47,247,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6791:Col15a1
|
UTSW |
4 |
47,300,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6855:Col15a1
|
UTSW |
4 |
47,245,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Col15a1
|
UTSW |
4 |
47,247,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7201:Col15a1
|
UTSW |
4 |
47,307,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7261:Col15a1
|
UTSW |
4 |
47,269,088 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7273:Col15a1
|
UTSW |
4 |
47,284,467 (GRCm39) |
splice site |
probably null |
|
|
R7413:Col15a1
|
UTSW |
4 |
47,245,431 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7658:Col15a1
|
UTSW |
4 |
47,245,591 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8032:Col15a1
|
UTSW |
4 |
47,288,108 (GRCm39) |
missense |
unknown |
|
|
R8075:Col15a1
|
UTSW |
4 |
47,208,359 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8130:Col15a1
|
UTSW |
4 |
47,312,196 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8536:Col15a1
|
UTSW |
4 |
47,208,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8873:Col15a1
|
UTSW |
4 |
47,247,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8887:Col15a1
|
UTSW |
4 |
47,287,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9143:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9161:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9176:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9177:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9184:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9185:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9214:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9268:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9269:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9362:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9367:Col15a1
|
UTSW |
4 |
47,245,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Col15a1
|
UTSW |
4 |
47,300,473 (GRCm39) |
nonsense |
probably null |
|
|
R9391:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9392:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9419:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9421:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9422:Col15a1
|
UTSW |
4 |
47,293,364 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9426:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9427:Col15a1
|
UTSW |
4 |
47,288,200 (GRCm39) |
unclassified |
probably benign |
|
|
R9429:Col15a1
|
UTSW |
4 |
47,310,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Col15a1
|
UTSW |
4 |
47,257,187 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9747:Col15a1
|
UTSW |
4 |
47,312,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Col15a1
|
UTSW |
4 |
47,245,807 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCCTGAAGAGTCTAAAAGGAGC -3'
(R):5'- AGGTACAGTTGCTGTGAGAGC -3'
Sequencing Primer
(F):5'- TCTAAAAGGAGCATCTTTGAGAGGAC -3'
(R):5'- TGGCTGTCCCAGACACTTAAAGTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation