Incidental Mutation 'R7273:Col15a1'
| ID |
574701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
045357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 47284467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
[ENSMUST00000107731]
[ENSMUST00000140413]
[ENSMUST00000146967]
|
| AlphaFold |
O35206 |
| PDB Structure |
MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
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 null
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 benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
A |
T |
15: 77,373,068 (GRCm39) |
I235F |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,712,352 (GRCm39) |
E222D |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,881,948 (GRCm39) |
V280D |
possibly damaging |
Het |
| Chrd |
G |
A |
16: 20,560,316 (GRCm39) |
R922Q |
probably benign |
Het |
| Cnga4 |
T |
A |
7: 105,056,172 (GRCm39) |
V361E |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,877,656 (GRCm39) |
V2107A |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,825,493 (GRCm39) |
V63F |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,504,432 (GRCm39) |
H797R |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,151,167 (GRCm39) |
T141A |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,631,832 (GRCm39) |
V457A |
probably benign |
Het |
| Kif19b |
T |
A |
5: 140,461,767 (GRCm39) |
V523E |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,789,578 (GRCm39) |
C532R |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,749 (GRCm39) |
S23G |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,125,148 (GRCm39) |
D498E |
probably benign |
Het |
| Mcam |
T |
C |
9: 44,052,241 (GRCm39) |
F584S |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,188,912 (GRCm39) |
D50E |
unknown |
Het |
| Mga |
T |
C |
2: 119,765,695 (GRCm39) |
S1320P |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,405,307 (GRCm39) |
G905D |
unknown |
Het |
| Ncor2 |
T |
C |
5: 125,100,687 (GRCm39) |
N1297S |
|
Het |
| Nisch |
A |
G |
14: 30,896,364 (GRCm39) |
V946A |
unknown |
Het |
| Npc1l1 |
A |
G |
11: 6,168,320 (GRCm39) |
F957S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,857,057 (GRCm39) |
N402S |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,025,854 (GRCm39) |
T159A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,961 (GRCm39) |
I91F |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,873 (GRCm39) |
D334G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Prepl |
A |
C |
17: 85,389,420 (GRCm39) |
V128G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,791 (GRCm39) |
V568A |
probably damaging |
Het |
| Rab10 |
G |
T |
12: 3,306,891 (GRCm39) |
S101R |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,779,858 (GRCm39) |
R435Q |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,322,582 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
G |
15: 32,417,608 (GRCm39) |
D26G |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,589,857 (GRCm39) |
D515G |
probably benign |
Het |
| Spata31d1b |
G |
A |
13: 59,865,446 (GRCm39) |
V865I |
probably benign |
Het |
| Sycp3 |
A |
T |
10: 88,305,428 (GRCm39) |
Q176H |
probably damaging |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,475 (GRCm39) |
M90I |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,485,098 (GRCm39) |
V102D |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,535,931 (GRCm39) |
V457A |
probably benign |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,809,677 (GRCm39) |
D1217N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,302 (GRCm39) |
I1146T |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,076,250 (GRCm39) |
Q172R |
probably benign |
Het |
| Uqcc5 |
G |
T |
14: 30,846,555 (GRCm39) |
R55S |
probably damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,342,563 (GRCm39) |
A314V |
possibly damaging |
Het |
| Zfp787 |
A |
T |
7: 6,136,039 (GRCm39) |
C71S |
possibly damaging |
Het |
| Zhx2 |
C |
T |
15: 57,686,824 (GRCm39) |
A731V |
probably benign |
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 |
|
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'- AGGAAGCTTCTGTGGAGAAC -3'
(R):5'- GACATGTCTGCGGAGAGTATG -3'
Sequencing Primer
(F):5'- CAGGGACAGTGATCCACAG -3'
(R):5'- TATGAAAGATATGAGTGTGTGCGATG -3'
|
| Posted On |
2019-10-03 |
Incidental Mutation