Incidental Mutation 'R5974:Col15a1'
ID |
471601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col15a1
|
Ensembl Gene |
ENSMUSG00000028339 |
Gene Name |
collagen, type XV, alpha 1 |
Synonyms |
|
MMRRC Submission |
044157-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5974 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47258683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 358
(T358I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
|
AlphaFold |
O35206 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082303
AA Change: T358I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000080921 Gene: ENSMUSG00000028339 AA Change: T358I
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: T358I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000099981 Gene: ENSMUSG00000028339 AA Change: T358I
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Anapc4 |
T |
C |
5: 53,002,742 (GRCm39) |
L261P |
probably damaging |
Het |
Aqp6 |
A |
G |
15: 99,499,317 (GRCm39) |
Y10C |
probably benign |
Het |
Ccnb1ip1 |
A |
T |
14: 51,029,662 (GRCm39) |
N133K |
probably benign |
Het |
Clip4 |
A |
T |
17: 72,138,242 (GRCm39) |
H433L |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,183,480 (GRCm39) |
M62K |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,589,409 (GRCm39) |
S1049P |
probably damaging |
Het |
Coro7 |
A |
T |
16: 4,449,753 (GRCm39) |
D645E |
possibly damaging |
Het |
Ctnnal1 |
C |
A |
4: 56,817,067 (GRCm39) |
W585L |
probably damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,451,259 (GRCm39) |
E114* |
probably null |
Het |
Daam2 |
T |
A |
17: 49,771,501 (GRCm39) |
S882C |
probably damaging |
Het |
Des |
T |
A |
1: 75,339,628 (GRCm39) |
S329T |
probably benign |
Het |
Dido1 |
T |
C |
2: 180,313,290 (GRCm39) |
D994G |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,871,261 (GRCm39) |
V547A |
probably damaging |
Het |
Ebf4 |
G |
A |
2: 130,207,484 (GRCm39) |
A643T |
probably damaging |
Het |
Ect2 |
C |
A |
3: 27,199,112 (GRCm39) |
E194* |
probably null |
Het |
Epb41l2 |
A |
G |
10: 25,317,713 (GRCm39) |
I77V |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 15,917,824 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
G |
18: 58,181,992 (GRCm39) |
D1803A |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,040,631 (GRCm39) |
E858G |
probably benign |
Het |
Fbxo24 |
C |
T |
5: 137,617,912 (GRCm39) |
R284Q |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,793,657 (GRCm39) |
I425N |
possibly damaging |
Het |
Fut9 |
A |
C |
4: 25,620,090 (GRCm39) |
Y241* |
probably null |
Het |
Galr2 |
A |
G |
11: 116,173,852 (GRCm39) |
S161G |
possibly damaging |
Het |
Gcc2 |
T |
A |
10: 58,094,065 (GRCm39) |
L14I |
probably damaging |
Het |
H2-T15 |
A |
T |
17: 36,367,677 (GRCm39) |
D220E |
probably benign |
Het |
Hdac11 |
G |
A |
6: 91,150,196 (GRCm39) |
V332I |
probably benign |
Het |
Hdac7 |
T |
C |
15: 97,699,953 (GRCm39) |
|
probably null |
Het |
Kif16b |
C |
T |
2: 142,699,301 (GRCm39) |
G93D |
probably damaging |
Het |
Krtap11-1 |
C |
A |
16: 89,367,656 (GRCm39) |
C121F |
possibly damaging |
Het |
Lacc1 |
T |
C |
14: 77,272,517 (GRCm39) |
Q93R |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,080,722 (GRCm39) |
F1250S |
probably benign |
Het |
Lmbrd2 |
A |
G |
15: 9,172,202 (GRCm39) |
E332G |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,289,892 (GRCm39) |
C3649F |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,134,857 (GRCm39) |
V1653A |
probably benign |
Het |
Mrpl1 |
T |
C |
5: 96,379,653 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,650,920 (GRCm39) |
|
probably null |
Het |
Negr1 |
T |
A |
3: 156,774,923 (GRCm39) |
V213E |
probably damaging |
Het |
Nlk |
T |
G |
11: 78,481,792 (GRCm39) |
Q223P |
probably benign |
Het |
Ntn5 |
A |
G |
7: 45,340,848 (GRCm39) |
H162R |
probably damaging |
Het |
Nup42 |
T |
C |
5: 24,372,400 (GRCm39) |
S63P |
probably damaging |
Het |
Obscn |
C |
A |
11: 58,967,373 (GRCm39) |
D477Y |
probably damaging |
Het |
Or12d12 |
A |
T |
17: 37,611,229 (GRCm39) |
I28N |
possibly damaging |
Het |
Or5an1 |
T |
C |
19: 12,261,200 (GRCm39) |
S263P |
probably damaging |
Het |
Or8u10 |
T |
C |
2: 85,915,225 (GRCm39) |
S299G |
probably benign |
Het |
Pabpn1 |
A |
G |
14: 55,134,617 (GRCm39) |
T280A |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,127,194 (GRCm39) |
V109E |
possibly damaging |
Het |
Pira2 |
A |
C |
7: 3,844,576 (GRCm39) |
V485G |
probably benign |
Het |
Pknox2 |
A |
G |
9: 36,847,618 (GRCm39) |
L133P |
probably damaging |
Het |
Pros1 |
A |
C |
16: 62,721,030 (GRCm39) |
N195T |
probably damaging |
Het |
Rffl |
T |
C |
11: 82,696,977 (GRCm39) |
K289E |
probably damaging |
Het |
Ripk1 |
T |
A |
13: 34,214,084 (GRCm39) |
Y475* |
probably null |
Het |
Ryr2 |
A |
G |
13: 11,729,397 (GRCm39) |
|
probably null |
Het |
Sgk1 |
T |
A |
10: 21,872,148 (GRCm39) |
N241K |
probably damaging |
Het |
Skint1 |
T |
A |
4: 111,876,516 (GRCm39) |
S146T |
probably benign |
Het |
Sox30 |
G |
T |
11: 45,871,900 (GRCm39) |
D252Y |
probably damaging |
Het |
Syngap1 |
A |
G |
17: 27,182,012 (GRCm39) |
Y1002C |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,465,084 (GRCm39) |
D271G |
possibly damaging |
Het |
Ticam1 |
T |
C |
17: 56,578,178 (GRCm39) |
T306A |
probably benign |
Het |
Tmem252 |
A |
G |
19: 24,651,632 (GRCm39) |
E67G |
probably benign |
Het |
Tnxb |
T |
G |
17: 34,904,681 (GRCm39) |
F1149V |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,148,389 (GRCm39) |
|
probably null |
Het |
Unc50 |
A |
G |
1: 37,476,290 (GRCm39) |
D150G |
probably benign |
Het |
Ywhag |
A |
C |
5: 135,940,483 (GRCm39) |
L37R |
probably damaging |
Het |
Zfp296 |
T |
C |
7: 19,311,862 (GRCm39) |
L123P |
probably benign |
Het |
Zfp418 |
G |
T |
7: 7,185,199 (GRCm39) |
Q387H |
possibly damaging |
Het |
Zfp882 |
T |
C |
8: 72,666,999 (GRCm39) |
F53L |
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 |
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'- CTGTCCCCTGGATTTTGCAAG -3'
(R):5'- TGCTTCTACCAGGAACAAGCC -3'
Sequencing Primer
(F):5'- CAAGTCTGGGACTGGTCTGAGAC -3'
(R):5'- CAGGAACAAGCCCTAGCAGG -3'
|
Posted On |
2017-03-31 |