Incidental Mutation 'R8130:Col15a1'
ID |
631955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col15a1
|
Ensembl Gene |
ENSMUSG00000028339 |
Gene Name |
collagen, type XV, alpha 1 |
Synonyms |
|
MMRRC Submission |
067559-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R8130 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47312196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1337
(T1337I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099981
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
[ENSMUST00000107730]
[ENSMUST00000107731]
|
AlphaFold |
O35206 |
PDB Structure |
MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082303
AA Change: T1315I
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080921 Gene: ENSMUSG00000028339 AA Change: T1315I
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: T1337I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099981 Gene: ENSMUSG00000028339 AA Change: T1337I
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 |
possibly damaging
Transcript: ENSMUST00000107730
AA Change: T248I
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103358 Gene: ENSMUSG00000028339 AA Change: T248I
Domain | Start | End | E-Value | Type |
Pfam:Endostatin
|
20 |
100 |
8.7e-16 |
PFAM |
Pfam:Endostatin
|
83 |
278 |
5.7e-99 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107731
AA Change: T503I
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103359 Gene: ENSMUSG00000028339 AA Change: T503I
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
Validation Efficiency |
96% (52/54) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,271 (GRCm39) |
I130M |
probably damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
Arfgef2 |
T |
A |
2: 166,678,170 (GRCm39) |
S218T |
possibly damaging |
Het |
Armc8 |
C |
T |
9: 99,433,600 (GRCm39) |
V40I |
probably benign |
Het |
Caps2 |
A |
T |
10: 112,018,381 (GRCm39) |
D177V |
probably benign |
Het |
Cdh8 |
A |
T |
8: 99,757,676 (GRCm39) |
F641I |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,596,384 (GRCm39) |
S1127G |
probably benign |
Het |
Cmtm1 |
C |
A |
8: 105,036,088 (GRCm39) |
Q180H |
unknown |
Het |
Col18a1 |
A |
T |
10: 76,910,284 (GRCm39) |
M555K |
probably benign |
Het |
Ctrb1 |
A |
G |
8: 112,415,823 (GRCm39) |
F89L |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,917,199 (GRCm39) |
T76A |
probably benign |
Het |
Dpep1 |
T |
C |
8: 123,926,965 (GRCm39) |
V263A |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,114,358 (GRCm39) |
E1216K |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,433,052 (GRCm39) |
Y45C |
probably benign |
Het |
Fam186a |
CGG |
CG |
15: 99,841,914 (GRCm39) |
|
probably null |
Het |
Gcm1 |
T |
A |
9: 77,971,816 (GRCm39) |
D252E |
probably benign |
Het |
Gm11559 |
A |
G |
11: 99,755,416 (GRCm39) |
T22A |
unknown |
Het |
Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
Hypk |
A |
G |
2: 121,286,859 (GRCm39) |
|
probably benign |
Het |
I830077J02Rik |
C |
T |
3: 105,834,233 (GRCm39) |
C64Y |
possibly damaging |
Het |
Igkv4-86 |
T |
C |
6: 68,887,650 (GRCm39) |
I30V |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,455,416 (GRCm39) |
I342V |
probably benign |
Het |
Kcnip3 |
C |
T |
2: 127,352,828 (GRCm39) |
A64T |
possibly damaging |
Het |
Kdm5d |
T |
A |
Y: 940,658 (GRCm39) |
D1056E |
possibly damaging |
Het |
Kif19b |
C |
T |
5: 140,460,716 (GRCm39) |
R461C |
probably damaging |
Het |
Krtap19-2 |
C |
T |
16: 88,670,903 (GRCm39) |
G81R |
unknown |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,629,965 (GRCm39) |
I69N |
|
Het |
Matcap1 |
G |
A |
8: 106,012,145 (GRCm39) |
R101W |
probably benign |
Het |
Mki67 |
C |
T |
7: 135,299,293 (GRCm39) |
D1914N |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,937,707 (GRCm39) |
Q235L |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,699,111 (GRCm39) |
K185* |
probably null |
Het |
Muc6 |
T |
C |
7: 141,233,354 (GRCm39) |
T802A |
probably damaging |
Het |
Necab1 |
A |
T |
4: 15,005,073 (GRCm39) |
F130L |
probably damaging |
Het |
Nemf |
A |
T |
12: 69,402,826 (GRCm39) |
M70K |
possibly damaging |
Het |
Nploc4 |
A |
G |
11: 120,280,240 (GRCm39) |
I436T |
possibly damaging |
Het |
Obscn |
C |
A |
11: 59,015,439 (GRCm39) |
R1011M |
probably damaging |
Het |
Or4k44 |
A |
T |
2: 111,367,825 (GRCm39) |
F270I |
probably damaging |
Het |
Or5aq1b |
T |
C |
2: 86,901,570 (GRCm39) |
K303E |
probably benign |
Het |
Or8k24 |
T |
A |
2: 86,215,911 (GRCm39) |
M284L |
probably benign |
Het |
Ormdl1 |
T |
A |
1: 53,338,139 (GRCm39) |
M1K |
probably null |
Het |
Pramel34 |
A |
T |
5: 93,784,597 (GRCm39) |
L289Q |
probably damaging |
Het |
Psmb3 |
A |
G |
11: 97,594,723 (GRCm39) |
D38G |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,792,026 (GRCm39) |
L1171Q |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Slc22a18 |
G |
A |
7: 143,052,911 (GRCm39) |
V379I |
probably damaging |
Het |
Speg |
T |
A |
1: 75,392,240 (GRCm39) |
F1632L |
probably damaging |
Het |
Taok1 |
G |
A |
11: 77,470,659 (GRCm39) |
R49C |
possibly damaging |
Het |
Ttll6 |
T |
C |
11: 96,047,425 (GRCm39) |
S675P |
probably benign |
Het |
Usp8 |
A |
T |
2: 126,559,918 (GRCm39) |
|
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,110,538 (GRCm39) |
N550K |
possibly damaging |
Het |
Zfp119a |
A |
T |
17: 56,172,971 (GRCm39) |
C291S |
probably damaging |
Het |
Zfp329 |
C |
A |
7: 12,544,313 (GRCm39) |
G404C |
probably damaging |
Het |
Zfp934 |
C |
A |
13: 62,667,985 (GRCm39) |
|
probably null |
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 |
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'- TGCTAACTTCCTCACCAAGATATAC -3'
(R):5'- CAACATTTTAGACTTCAGTGTCAAC -3'
Sequencing Primer
(F):5'- ATCACTTATCTCATAGCCAGGTGGG -3'
(R):5'- CTTCAGTGTCAACTCTTCACATAAG -3'
|
Posted On |
2020-06-30 |