Incidental Mutation 'R5985:Col15a1'
ID |
481590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col15a1
|
Ensembl Gene |
ENSMUSG00000028339 |
Gene Name |
collagen, type XV, alpha 1 |
Synonyms |
|
MMRRC Submission |
044165-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5985 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47284507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 821
(F821L)
|
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 damaging
Transcript: ENSMUST00000082303
AA Change: F799L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080921 Gene: ENSMUSG00000028339 AA Change: F799L
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: F821L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099981 Gene: ENSMUSG00000028339 AA Change: F821L
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 |
|
Meta Mutation Damage Score |
0.0774 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
96% (47/49) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,241,628 (GRCm39) |
I1164L |
probably benign |
Het |
Actn1 |
C |
A |
12: 80,215,169 (GRCm39) |
G864V |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,604,146 (GRCm39) |
I34T |
probably benign |
Het |
Ankrd10 |
T |
A |
8: 11,669,077 (GRCm39) |
K225* |
probably null |
Het |
Ankrd29 |
G |
A |
18: 12,412,832 (GRCm39) |
A115V |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
Atg2a |
A |
G |
19: 6,304,667 (GRCm39) |
T1175A |
probably damaging |
Het |
Atp12a |
A |
G |
14: 56,621,798 (GRCm39) |
D781G |
probably damaging |
Het |
B4galnt3 |
G |
A |
6: 120,187,119 (GRCm39) |
P759S |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,675,411 (GRCm39) |
I448V |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,064,952 (GRCm39) |
Y498C |
probably damaging |
Het |
Defb37 |
A |
T |
8: 19,036,347 (GRCm39) |
C58S |
probably damaging |
Het |
Faap20 |
T |
C |
4: 155,334,797 (GRCm39) |
|
probably benign |
Het |
Frem1 |
C |
T |
4: 82,884,287 (GRCm39) |
V1204I |
probably benign |
Het |
Gal3st2 |
T |
C |
1: 93,801,335 (GRCm39) |
V46A |
possibly damaging |
Het |
Gan |
C |
T |
8: 117,922,557 (GRCm39) |
S430L |
possibly damaging |
Het |
Gas2 |
T |
A |
7: 51,593,424 (GRCm39) |
I168K |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
Gm3898 |
G |
A |
9: 43,741,329 (GRCm39) |
|
noncoding transcript |
Het |
Gria4 |
T |
C |
9: 4,503,593 (GRCm39) |
Q341R |
probably damaging |
Het |
Herpud1 |
G |
A |
8: 95,117,422 (GRCm39) |
R2Q |
probably damaging |
Het |
Klf15 |
G |
A |
6: 90,443,703 (GRCm39) |
G93R |
possibly damaging |
Het |
Mtmr7 |
A |
G |
8: 41,004,873 (GRCm39) |
F568L |
probably benign |
Het |
Myod1 |
A |
G |
7: 46,027,222 (GRCm39) |
Y229C |
probably damaging |
Het |
Or12e14 |
A |
G |
2: 87,187,949 (GRCm39) |
I54V |
probably benign |
Het |
Or5l13 |
A |
G |
2: 87,779,665 (GRCm39) |
M304T |
probably benign |
Het |
Phf11b |
A |
G |
14: 59,559,027 (GRCm39) |
L235P |
possibly damaging |
Het |
Pira1 |
C |
A |
7: 3,740,316 (GRCm39) |
G302C |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Prox1 |
A |
T |
1: 189,879,152 (GRCm39) |
F675L |
possibly damaging |
Het |
Rnf144a |
C |
T |
12: 26,367,779 (GRCm39) |
E176K |
probably benign |
Het |
Safb2 |
T |
C |
17: 56,870,181 (GRCm39) |
E965G |
possibly damaging |
Het |
Sik3 |
A |
G |
9: 46,122,973 (GRCm39) |
N874S |
probably damaging |
Het |
Slitrk3 |
T |
C |
3: 72,958,233 (GRCm39) |
I180V |
probably damaging |
Het |
Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
Spns1 |
G |
A |
7: 125,975,902 (GRCm39) |
T84I |
probably benign |
Het |
Syne2 |
C |
G |
12: 76,012,933 (GRCm39) |
P2709R |
probably damaging |
Het |
Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
Terb1 |
A |
G |
8: 105,208,948 (GRCm39) |
S377P |
probably damaging |
Het |
Tph1 |
A |
G |
7: 46,303,205 (GRCm39) |
Y258H |
probably damaging |
Het |
Trip12 |
T |
A |
1: 84,703,492 (GRCm39) |
E1881D |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,958,358 (GRCm39) |
L412P |
probably damaging |
Het |
Ttll13 |
C |
T |
7: 79,904,386 (GRCm39) |
A337V |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,067,527 (GRCm39) |
K344E |
possibly damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,693,855 (GRCm39) |
I7F |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,368,082 (GRCm39) |
N303K |
possibly damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,800,587 (GRCm39) |
V585A |
probably benign |
Het |
Zan |
A |
C |
5: 137,444,299 (GRCm39) |
|
probably null |
Het |
Zfp423 |
A |
T |
8: 88,508,774 (GRCm39) |
N502K |
possibly damaging |
Het |
Zfp473 |
C |
T |
7: 44,382,752 (GRCm39) |
R526Q |
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 |
R5974:Col15a1
|
UTSW |
4 |
47,258,683 (GRCm39) |
missense |
probably benign |
0.02 |
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'- ATCAGTGACTTACCCAGGTTCC -3'
(R):5'- GAGAACCTGACACTTACGGC -3'
Sequencing Primer
(F):5'- GTGACTTACCCAGGTTCCCATGTC -3'
(R):5'- TGTCTGCGGAGAGTATGA -3'
|
Posted On |
2017-06-26 |