Incidental Mutation 'R0299:Col15a1'
| ID |
24776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
038513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47262950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 534
(D534V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
|
| AlphaFold |
O35206 |
| PDB Structure |
MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082303
AA Change: D534V
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: D534V
| 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 damaging
Transcript: ENSMUST00000102917
AA Change: D534V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: D534V
| 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 |
noncoding transcript
Transcript: ENSMUST00000140094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148103
|
| Meta Mutation Damage Score |
0.1325 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.3%
- 20x: 90.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,615 (GRCm39) |
R176S |
possibly damaging |
Het |
| A2ml1 |
T |
G |
6: 128,530,195 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,248,076 (GRCm39) |
E2608K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,197,201 (GRCm39) |
E146G |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,588,015 (GRCm39) |
D894V |
probably damaging |
Het |
| Ap4b1 |
T |
C |
3: 103,717,262 (GRCm39) |
M1T |
probably null |
Het |
| Arg2 |
A |
G |
12: 79,194,386 (GRCm39) |
D70G |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,510,161 (GRCm39) |
T86K |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,647,858 (GRCm39) |
V69A |
probably damaging |
Het |
| Col16a1 |
TCCCC |
TCCC |
4: 129,952,111 (GRCm39) |
|
probably null |
Het |
| Degs1 |
A |
T |
1: 182,106,836 (GRCm39) |
I141N |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,934,483 (GRCm39) |
F1489L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,514,646 (GRCm39) |
R1424G |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,767,466 (GRCm39) |
I716T |
probably benign |
Het |
| Frk |
T |
C |
10: 34,360,367 (GRCm39) |
|
probably null |
Het |
| Fshr |
C |
G |
17: 89,316,713 (GRCm39) |
S169T |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
| Gm11596 |
G |
A |
11: 99,683,770 (GRCm39) |
P117S |
unknown |
Het |
| Gm6327 |
T |
C |
16: 12,579,061 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,476,121 (GRCm39) |
L268P |
probably damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,671 (GRCm39) |
V203M |
probably damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,363 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,309 (GRCm39) |
Y317* |
probably null |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,560 (GRCm39) |
L372P |
probably benign |
Het |
| Mss51 |
T |
A |
14: 20,534,756 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,306,466 (GRCm39) |
T296I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,893,881 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,732 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak9 |
A |
G |
4: 118,726,613 (GRCm39) |
I212V |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,688,791 (GRCm39) |
V820A |
probably benign |
Het |
| Pdcd10 |
T |
C |
3: 75,434,958 (GRCm39) |
K111R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,201,924 (GRCm39) |
V496E |
probably benign |
Het |
| Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
| Plxnc1 |
C |
T |
10: 94,685,683 (GRCm39) |
|
probably null |
Het |
| Ptpru |
G |
A |
4: 131,530,698 (GRCm39) |
Q519* |
probably null |
Het |
| Pzp |
A |
G |
6: 128,472,293 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,828,426 (GRCm39) |
D547E |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,732,016 (GRCm39) |
L281Q |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,967,729 (GRCm39) |
N222S |
probably benign |
Het |
| Sh3bgrl2 |
A |
G |
9: 83,459,612 (GRCm39) |
K57E |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 59,007,383 (GRCm39) |
E289G |
probably benign |
Het |
| Sik3 |
T |
C |
9: 46,120,038 (GRCm39) |
M659T |
possibly damaging |
Het |
| Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,227,053 (GRCm39) |
|
probably benign |
Het |
| Suco |
G |
A |
1: 161,681,379 (GRCm39) |
T253I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,263,359 (GRCm39) |
D1409G |
probably damaging |
Het |
| Tram2 |
T |
C |
1: 21,074,468 (GRCm39) |
D238G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,964,237 (GRCm39) |
M1244T |
possibly damaging |
Het |
| Trub1 |
A |
G |
19: 57,472,057 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ugcg |
G |
C |
4: 59,217,036 (GRCm39) |
V187L |
possibly damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,494 (GRCm39) |
Q265L |
probably damaging |
Het |
| Zfp821 |
G |
T |
8: 110,450,862 (GRCm39) |
R285L |
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 |
|
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 |
|
|
R9181: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'- CTTCTGTGACTGAGCCAAGTGTGAG -3'
(R):5'- CCCTGTGACACTGCTAATCCTGATG -3'
Sequencing Primer
(F):5'- AGCCAAGTGTGAGGATGTTG -3'
(R):5'- CAAGCTACAGTCTGCCCTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation