Incidental Mutation 'R6855:Col15a1'
| ID |
535185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
045024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 47245544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 98
(K98N)
|
| 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: K98N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: K98N
| 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: K98N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: K98N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,114,844 (GRCm39) |
S228F |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,141,901 (GRCm39) |
M3062K |
possibly damaging |
Het |
| Cdh8 |
G |
C |
8: 99,916,849 (GRCm39) |
S422C |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,309,376 (GRCm39) |
L238H |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,255,501 (GRCm39) |
R2399H |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,694 (GRCm39) |
H1568P |
probably benign |
Het |
| Dkk2 |
T |
G |
3: 131,883,683 (GRCm39) |
C194W |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,387,881 (GRCm39) |
R369C |
probably damaging |
Het |
| Efcab7 |
T |
G |
4: 99,757,777 (GRCm39) |
L308* |
probably null |
Het |
| Elp2 |
T |
A |
18: 24,739,934 (GRCm39) |
N53K |
possibly damaging |
Het |
| Eml6 |
T |
C |
11: 29,701,381 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,468,286 (GRCm39) |
E913* |
probably null |
Het |
| Fam186a |
T |
A |
15: 99,852,756 (GRCm39) |
Y154F |
unknown |
Het |
| Fhl3 |
G |
A |
4: 124,601,315 (GRCm39) |
D113N |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,216,843 (GRCm39) |
M2149K |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,268,380 (GRCm39) |
Y1251H |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,859 (GRCm39) |
G262W |
probably null |
Het |
| Gm14325 |
T |
A |
2: 177,474,635 (GRCm39) |
H148L |
probably damaging |
Het |
| Grxcr1 |
C |
A |
5: 68,189,437 (GRCm39) |
N69K |
possibly damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrp1b |
G |
C |
2: 40,518,708 (GRCm39) |
H175D |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,782,250 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,904,151 (GRCm39) |
F291L |
probably benign |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Nfil3 |
T |
A |
13: 53,122,641 (GRCm39) |
K88* |
probably null |
Het |
| Nit1 |
A |
C |
1: 171,171,130 (GRCm39) |
V194G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,017,835 (GRCm39) |
M1052V |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,044,231 (GRCm39) |
T511A |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,961,794 (GRCm39) |
M459I |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,513 (GRCm39) |
N3D |
probably benign |
Het |
| Peg3 |
A |
C |
7: 6,711,797 (GRCm39) |
S1142A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,859,204 (GRCm39) |
K959N |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,223,950 (GRCm39) |
|
probably null |
Het |
| Pigz |
A |
G |
16: 31,764,036 (GRCm39) |
I365V |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,070,818 (GRCm39) |
Q860L |
probably damaging |
Het |
| Poglut2 |
C |
A |
1: 44,149,987 (GRCm39) |
E401* |
probably null |
Het |
| Ppp5c |
T |
G |
7: 16,740,891 (GRCm39) |
D359A |
possibly damaging |
Het |
| Pvr |
C |
T |
7: 19,643,139 (GRCm39) |
A365T |
possibly damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,635,029 (GRCm39) |
L430Q |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,208,911 (GRCm39) |
V198G |
probably benign |
Het |
| Rnf38 |
C |
T |
4: 44,149,224 (GRCm39) |
R41H |
probably damaging |
Het |
| Rptn |
G |
A |
3: 93,305,558 (GRCm39) |
V964I |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,271,719 (GRCm39) |
D263G |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,819,573 (GRCm39) |
C560R |
probably damaging |
Het |
| Shisal2b |
T |
C |
13: 105,000,214 (GRCm39) |
Q3R |
probably benign |
Het |
| Sidt1 |
A |
C |
16: 44,065,706 (GRCm39) |
I734S |
probably null |
Het |
| Ssh1 |
G |
T |
5: 114,080,636 (GRCm39) |
D931E |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,351,599 (GRCm39) |
R274I |
probably damaging |
Het |
| Tpi1 |
T |
C |
6: 124,789,426 (GRCm39) |
D183G |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,754,883 (GRCm39) |
Y205N |
probably damaging |
Het |
| Tsc22d2 |
G |
A |
3: 58,324,235 (GRCm39) |
V376M |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,402,569 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Uspl1 |
C |
A |
5: 149,124,655 (GRCm39) |
S24Y |
probably damaging |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,451 (GRCm39) |
W260G |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
| Zfp868 |
A |
C |
8: 70,064,230 (GRCm39) |
H368Q |
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 |
|
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 |
|
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'- CCTCACAGTGCTCATTGGTGTC -3'
(R):5'- AAGAGCAACTTCTTCGCCCTG -3'
Sequencing Primer
(F):5'- AGTGCTCATTGGTGTCCCATTAC -3'
(R):5'- AAAACGATTCCACCTGTTGGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation