Incidental Mutation 'R9161:Col15a1'
ID |
695683 |
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: 0.072)
|
Stock # |
R9161 (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 |
98% (58/59) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
A |
8: 13,272,270 (GRCm39) |
N1496I |
probably damaging |
Het |
Arglu1 |
T |
C |
8: 8,733,941 (GRCm39) |
E125G |
possibly damaging |
Het |
Atad2 |
A |
T |
15: 57,989,185 (GRCm39) |
I225N |
possibly damaging |
Het |
Atrn |
T |
C |
2: 130,777,470 (GRCm39) |
F173S |
probably damaging |
Het |
BC024063 |
T |
A |
10: 81,945,044 (GRCm39) |
H221Q |
probably benign |
Het |
Bnip5 |
T |
A |
17: 29,128,387 (GRCm39) |
K175N |
probably damaging |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cdh24 |
A |
T |
14: 54,876,097 (GRCm39) |
Y182N |
probably damaging |
Het |
Cdkl4 |
A |
G |
17: 80,851,120 (GRCm39) |
L194P |
probably damaging |
Het |
Cep152 |
T |
A |
2: 125,408,574 (GRCm39) |
R1327* |
probably null |
Het |
Ckap5 |
A |
T |
2: 91,445,653 (GRCm39) |
M1797L |
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,474,651 (GRCm39) |
N895I |
probably damaging |
Het |
Cotl1 |
G |
T |
8: 120,549,456 (GRCm39) |
D85E |
probably benign |
Het |
Cryba4 |
A |
C |
5: 112,396,039 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,625,023 (GRCm39) |
K3817E |
probably benign |
Het |
Ehd3 |
A |
T |
17: 74,134,480 (GRCm39) |
R280* |
probably null |
Het |
Erp29 |
T |
C |
5: 121,583,146 (GRCm39) |
E260G |
possibly damaging |
Het |
Fam135b |
T |
A |
15: 71,334,417 (GRCm39) |
R926W |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,192,270 (GRCm39) |
N1413S |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,251,727 (GRCm39) |
V262A |
probably damaging |
Het |
Gabrb1 |
A |
G |
5: 72,187,199 (GRCm39) |
D164G |
probably damaging |
Het |
Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
Get1 |
A |
T |
16: 95,953,139 (GRCm39) |
R77W |
probably damaging |
Het |
Gon4l |
A |
G |
3: 88,808,955 (GRCm39) |
N1733S |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,242,758 (GRCm39) |
T562A |
probably benign |
Het |
Inha |
A |
G |
1: 75,484,144 (GRCm39) |
I85V |
probably damaging |
Het |
Kif28 |
A |
C |
1: 179,526,244 (GRCm39) |
V897G |
probably benign |
Het |
Map1s |
G |
A |
8: 71,366,250 (GRCm39) |
R385H |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,477,503 (GRCm39) |
V1750A |
possibly damaging |
Het |
Mbd1 |
C |
T |
18: 74,407,792 (GRCm39) |
P273L |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,352,172 (GRCm39) |
T1226A |
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,353,026 (GRCm39) |
C791S |
possibly damaging |
Het |
Nlrc5 |
A |
C |
8: 95,213,274 (GRCm39) |
H883P |
probably damaging |
Het |
Nrip3 |
C |
T |
7: 109,365,777 (GRCm39) |
R91H |
probably damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,038 (GRCm39) |
V82M |
probably damaging |
Het |
Or12j3 |
C |
T |
7: 139,952,989 (GRCm39) |
C178Y |
probably damaging |
Het |
Or51a10 |
C |
A |
7: 103,699,725 (GRCm39) |
|
probably benign |
Het |
Or8g21 |
A |
T |
9: 38,905,816 (GRCm39) |
I305K |
possibly damaging |
Het |
Or8k16 |
A |
G |
2: 85,520,231 (GRCm39) |
T153A |
probably benign |
Het |
Pdgfrb |
T |
G |
18: 61,197,053 (GRCm39) |
L163R |
probably damaging |
Het |
Pik3ip1 |
G |
T |
11: 3,281,945 (GRCm39) |
R34L |
possibly damaging |
Het |
Pip4k2b |
A |
G |
11: 97,615,245 (GRCm39) |
F205S |
possibly damaging |
Het |
Pttg1ip |
A |
C |
10: 77,425,487 (GRCm39) |
N60T |
probably benign |
Het |
Rab3ip |
C |
T |
10: 116,750,066 (GRCm39) |
E356K |
probably damaging |
Het |
Rai1 |
A |
G |
11: 60,076,682 (GRCm39) |
N249D |
probably benign |
Het |
Rd3l |
T |
C |
12: 111,946,753 (GRCm39) |
K8E |
probably damaging |
Het |
Rnf32 |
A |
G |
5: 29,408,058 (GRCm39) |
K96E |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Slc4a1ap |
A |
G |
5: 31,685,474 (GRCm39) |
K251E |
|
Het |
Spink5 |
T |
A |
18: 44,147,986 (GRCm39) |
N875K |
probably damaging |
Het |
Taf6 |
G |
T |
5: 138,178,160 (GRCm39) |
A447D |
probably benign |
Het |
Tbxas1 |
A |
T |
6: 38,999,989 (GRCm39) |
I259F |
probably damaging |
Het |
Tcap |
G |
T |
11: 98,275,256 (GRCm39) |
R130L |
probably damaging |
Het |
Tyms |
T |
C |
5: 30,266,040 (GRCm39) |
E293G |
|
Het |
Vmn1r20 |
C |
A |
6: 57,408,759 (GRCm39) |
F28L |
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,831,864 (GRCm39) |
D308E |
|
Het |
Vmn2r69 |
T |
A |
7: 85,056,177 (GRCm39) |
I654F |
possibly damaging |
Het |
Zfp990 |
G |
T |
4: 145,261,509 (GRCm39) |
V52L |
possibly 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 |
|
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'- TCCCTGAAGAGTCTAAAAGGAGC -3'
(R):5'- AGGTACAGTTGCTGTGAGAGC -3'
Sequencing Primer
(F):5'- TCTAAAAGGAGCATCTTTGAGAGGAC -3'
(R):5'- TGGCTGTCCCAGACACTTAAAGTG -3'
|
Posted On |
2022-01-20 |