Incidental Mutation 'IGL02268:Col15a1'
| ID |
286972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47245380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 44
(T44S)
|
| 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 damaging
Transcript: ENSMUST00000082303
AA Change: T44S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: T44S
| 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: T44S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: T44S
| 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: ENSMUST00000124105
|
| Coding Region Coverage |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
C |
T |
10: 28,862,242 (GRCm39) |
C16Y |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,240,626 (GRCm39) |
L830F |
probably benign |
Het |
| Apcdd1 |
T |
C |
18: 63,083,259 (GRCm39) |
V363A |
probably damaging |
Het |
| Atosb |
T |
A |
4: 43,036,468 (GRCm39) |
R88* |
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,809,294 (GRCm39) |
I260V |
possibly damaging |
Het |
| Cass4 |
T |
A |
2: 172,268,962 (GRCm39) |
M350K |
possibly damaging |
Het |
| Ccnjl |
A |
G |
11: 43,470,615 (GRCm39) |
T128A |
probably benign |
Het |
| Cd6 |
C |
T |
19: 10,773,752 (GRCm39) |
G361D |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,639 (GRCm39) |
|
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,746,572 (GRCm39) |
F475Y |
probably benign |
Het |
| Cplx3 |
C |
T |
9: 57,509,741 (GRCm39) |
E86K |
possibly damaging |
Het |
| Crbn |
A |
G |
6: 106,772,004 (GRCm39) |
V100A |
possibly damaging |
Het |
| D430041D05Rik |
C |
A |
2: 104,071,500 (GRCm39) |
V1267L |
possibly damaging |
Het |
| Ecrg4 |
T |
A |
1: 43,770,111 (GRCm39) |
C23S |
probably damaging |
Het |
| Elapor1 |
C |
A |
3: 108,375,113 (GRCm39) |
A585S |
probably benign |
Het |
| F930017D23Rik |
A |
G |
10: 43,480,405 (GRCm39) |
|
noncoding transcript |
Het |
| Fastkd3 |
A |
G |
13: 68,731,796 (GRCm39) |
D39G |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,733,490 (GRCm39) |
S912R |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ifna9 |
A |
T |
4: 88,510,591 (GRCm39) |
L11* |
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,238,573 (GRCm39) |
L536* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,861,673 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,593,144 (GRCm39) |
I215K |
probably damaging |
Het |
| Kdm4c |
A |
C |
4: 74,291,953 (GRCm39) |
I857L |
possibly damaging |
Het |
| Kptn |
A |
T |
7: 15,857,786 (GRCm39) |
H229L |
probably benign |
Het |
| Krt32 |
A |
T |
11: 99,978,967 (GRCm39) |
M29K |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,877,112 (GRCm39) |
|
probably benign |
Het |
| Lpcat2b |
A |
C |
5: 107,581,982 (GRCm39) |
D437A |
probably damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,755,764 (GRCm39) |
L513P |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,997 (GRCm39) |
V407A |
possibly damaging |
Het |
| Myo5c |
C |
T |
9: 75,153,519 (GRCm39) |
P135L |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,942,877 (GRCm39) |
V218M |
possibly damaging |
Het |
| Myof |
T |
A |
19: 37,963,311 (GRCm39) |
I429F |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Nckap1 |
G |
A |
2: 80,358,962 (GRCm39) |
P560S |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,044,713 (GRCm39) |
G1545D |
probably damaging |
Het |
| Ntrk1 |
G |
A |
3: 87,688,838 (GRCm39) |
H572Y |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,551 (GRCm39) |
F164L |
probably benign |
Het |
| Or7e177 |
T |
C |
9: 20,211,588 (GRCm39) |
S31P |
probably damaging |
Het |
| Pate8 |
T |
C |
9: 36,493,166 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,504 (GRCm39) |
D587V |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,609 (GRCm39) |
Y882C |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,606,704 (GRCm39) |
*1074C |
probably null |
Het |
| Plcxd1 |
T |
C |
5: 110,248,140 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
A |
G |
7: 138,474,700 (GRCm39) |
N27S |
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,624,152 (GRCm39) |
M390V |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,796,695 (GRCm39) |
T18A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,329,475 (GRCm39) |
|
probably benign |
Het |
| Rasl12 |
T |
C |
9: 65,305,946 (GRCm39) |
S34P |
probably damaging |
Het |
| Rpusd3 |
A |
T |
6: 113,395,818 (GRCm39) |
L65Q |
possibly damaging |
Het |
| Rtf2 |
A |
G |
2: 172,310,639 (GRCm39) |
K290R |
probably damaging |
Het |
| Rwdd4a |
T |
A |
8: 48,003,731 (GRCm39) |
L179* |
probably null |
Het |
| Scgb1b24 |
A |
G |
7: 33,444,388 (GRCm39) |
E87G |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,056,881 (GRCm39) |
I1022V |
probably benign |
Het |
| Smg1 |
A |
C |
7: 117,781,764 (GRCm39) |
I1174M |
probably benign |
Het |
| Spata17 |
A |
T |
1: 186,872,595 (GRCm39) |
M72K |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,910,632 (GRCm39) |
P338S |
probably damaging |
Het |
| Tpi1 |
G |
A |
6: 124,791,087 (GRCm39) |
T50I |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,867,362 (GRCm39) |
E354G |
probably damaging |
Het |
| Uba2 |
A |
G |
7: 33,842,161 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
G |
A |
6: 119,914,334 (GRCm39) |
R1823* |
probably null |
Het |
| Zfp248 |
A |
C |
6: 118,430,801 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,683,681 (GRCm39) |
K99* |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation