Incidental Mutation 'R4922:Col15a1'
ID |
378675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col15a1
|
Ensembl Gene |
ENSMUSG00000028339 |
Gene Name |
collagen, type XV, alpha 1 |
Synonyms |
|
MMRRC Submission |
042524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R4922 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47258719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 370
(V370A)
|
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 |
probably benign
Transcript: ENSMUST00000082303
AA Change: V370A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000080921 Gene: ENSMUSG00000028339 AA Change: V370A
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
AA Change: V370A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099981 Gene: ENSMUSG00000028339 AA Change: V370A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (76/78) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
G |
T |
4: 129,901,645 (GRCm39) |
C423F |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,220 (GRCm39) |
Y722* |
probably null |
Het |
Albfm1 |
A |
G |
5: 90,727,570 (GRCm39) |
H396R |
possibly damaging |
Het |
Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,467,934 (GRCm39) |
R1755S |
probably damaging |
Het |
Atf7ip |
A |
T |
6: 136,537,039 (GRCm39) |
T91S |
possibly damaging |
Het |
Bcl2 |
C |
A |
1: 106,640,376 (GRCm39) |
A79S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,314 (GRCm39) |
I2564K |
probably damaging |
Het |
Bmerb1 |
A |
G |
16: 13,804,683 (GRCm39) |
H10R |
possibly damaging |
Het |
Bmp10 |
C |
T |
6: 87,410,557 (GRCm39) |
P117S |
probably benign |
Het |
Bmpr2 |
A |
G |
1: 59,906,583 (GRCm39) |
T559A |
probably benign |
Het |
Cd200r1 |
A |
T |
16: 44,610,039 (GRCm39) |
Y86F |
probably damaging |
Het |
Cemip |
T |
A |
7: 83,596,308 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
T |
C |
5: 123,394,116 (GRCm39) |
V335A |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,822,548 (GRCm39) |
|
probably null |
Het |
Chml |
T |
C |
1: 175,514,712 (GRCm39) |
H60R |
possibly damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Clec12a |
A |
G |
6: 129,336,441 (GRCm39) |
Y201C |
probably damaging |
Het |
Cpsf3 |
T |
C |
12: 21,351,538 (GRCm39) |
I353T |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,230,667 (GRCm39) |
V470E |
probably benign |
Het |
Cyp4a10 |
C |
A |
4: 115,378,291 (GRCm39) |
Q126K |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,013,652 (GRCm39) |
S249P |
probably damaging |
Het |
Dnase2a |
A |
G |
8: 85,635,625 (GRCm39) |
|
probably null |
Het |
Dpp10 |
T |
C |
1: 123,305,882 (GRCm39) |
N490S |
probably benign |
Het |
Drgx |
A |
T |
14: 32,330,363 (GRCm39) |
N160I |
probably damaging |
Het |
Enc1 |
C |
T |
13: 97,382,243 (GRCm39) |
A251V |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,562,434 (GRCm39) |
V1258A |
probably benign |
Het |
Fancm |
G |
A |
12: 65,153,666 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
C |
T |
14: 65,536,657 (GRCm39) |
T177I |
probably benign |
Het |
Gm1965 |
T |
C |
6: 89,123,525 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
A |
T |
10: 93,339,401 (GRCm39) |
M497L |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,497,378 (GRCm39) |
L3936S |
possibly damaging |
Het |
Hs3st4 |
G |
T |
7: 123,996,410 (GRCm39) |
G359W |
probably damaging |
Het |
Il6st |
C |
T |
13: 112,639,399 (GRCm39) |
P608L |
probably damaging |
Het |
Kctd18 |
A |
C |
1: 58,004,707 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,940,309 (GRCm39) |
S1636T |
probably damaging |
Het |
Lrrn1 |
A |
T |
6: 107,545,311 (GRCm39) |
S370C |
probably damaging |
Het |
Mtcl1 |
A |
C |
17: 66,655,474 (GRCm39) |
C968G |
probably benign |
Het |
Mylip |
G |
A |
13: 45,562,238 (GRCm39) |
A347T |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,252 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
A |
1: 93,950,200 (GRCm39) |
V53E |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,680,687 (GRCm39) |
I302V |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,576 (GRCm39) |
C100S |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,811 (GRCm39) |
L243Q |
possibly damaging |
Het |
Otos |
T |
C |
1: 92,572,090 (GRCm39) |
T79A |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,122,009 (GRCm39) |
I578T |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
Prex2 |
C |
T |
1: 11,240,164 (GRCm39) |
P927S |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,116 (GRCm39) |
K1873N |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,887,417 (GRCm39) |
|
probably null |
Het |
Reln |
T |
A |
5: 22,200,585 (GRCm39) |
|
probably null |
Het |
Rgl2 |
A |
G |
17: 34,151,749 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
T |
A |
11: 44,448,063 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,724,849 (GRCm39) |
E2488G |
probably damaging |
Het |
Sgo2b |
A |
T |
8: 64,379,664 (GRCm39) |
M1056K |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,259,245 (GRCm39) |
V635A |
probably benign |
Het |
Snx19 |
T |
A |
9: 30,348,763 (GRCm39) |
Y101N |
probably benign |
Het |
Sorl1 |
C |
A |
9: 41,925,746 (GRCm39) |
|
probably null |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speer4a2 |
A |
T |
5: 26,289,791 (GRCm39) |
I212N |
probably damaging |
Het |
Tmem30b |
G |
A |
12: 73,592,488 (GRCm39) |
P209L |
probably damaging |
Het |
Trbv12-2 |
G |
T |
6: 41,096,081 (GRCm39) |
C52F |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,819,343 (GRCm39) |
D1304V |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,214,183 (GRCm39) |
Y487C |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,090,811 (GRCm39) |
N134K |
probably damaging |
Het |
Wdr27 |
C |
A |
17: 15,141,016 (GRCm39) |
|
probably null |
Het |
Wdr75 |
T |
C |
1: 45,855,638 (GRCm39) |
F430L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,211,299 (GRCm39) |
I170T |
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 |
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'- AGTCACAAATGTGGAGGTTCC -3'
(R):5'- GATTCGCCCCATAGTATTGCTAC -3'
Sequencing Primer
(F):5'- TCACAAATGTGGAGGTTCCTAAGGTC -3'
(R):5'- CTACTCTGCATTGTGTAGACAGGAG -3'
|
Posted On |
2016-04-15 |