Incidental Mutation 'R4793:Col15a1'
| ID |
368750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col15a1
|
| Ensembl Gene |
ENSMUSG00000028339 |
| Gene Name |
collagen, type XV, alpha 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
47208161-47313167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47262997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 550
(S550P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082303]
[ENSMUST00000102917]
|
| AlphaFold |
O35206 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082303
AA Change: S550P
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: S550P
| 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: S550P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: S550P
| 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
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
100% (91/91) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,082,544 (GRCm39) |
E1143V |
probably benign |
Het |
| Abi2 |
T |
A |
1: 60,448,963 (GRCm39) |
M1K |
probably null |
Het |
| Acp2 |
T |
C |
2: 91,037,134 (GRCm39) |
F205L |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,397,396 (GRCm39) |
N219D |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,707,042 (GRCm39) |
S168G |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 44,032,353 (GRCm39) |
E312D |
probably damaging |
Het |
| Calm5 |
T |
C |
13: 3,904,401 (GRCm39) |
S32P |
probably benign |
Het |
| Capn12 |
G |
A |
7: 28,592,094 (GRCm39) |
D671N |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,848,127 (GRCm39) |
|
probably null |
Het |
| Cdc20 |
T |
A |
4: 118,294,261 (GRCm39) |
I20F |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,167,129 (GRCm39) |
I1841N |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,226,087 (GRCm39) |
V345A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,516,820 (GRCm39) |
Y133H |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,138,277 (GRCm39) |
S1592P |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,349,626 (GRCm39) |
M56L |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,037,803 (GRCm39) |
S947P |
probably benign |
Het |
| Dpysl2 |
G |
T |
14: 67,052,498 (GRCm39) |
A339D |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,647,531 (GRCm39) |
D360G |
probably damaging |
Het |
| Ensa |
T |
C |
3: 95,532,489 (GRCm39) |
|
probably null |
Het |
| Fap |
C |
A |
2: 62,374,713 (GRCm39) |
V229F |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,163,155 (GRCm39) |
G2116* |
probably null |
Het |
| Frmd4b |
A |
T |
6: 97,272,822 (GRCm39) |
S857T |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,818,044 (GRCm39) |
Y4592* |
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,928,966 (GRCm39) |
Y135N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,078,234 (GRCm39) |
L66P |
probably damaging |
Het |
| Gm10257 |
T |
C |
13: 101,083,305 (GRCm39) |
|
noncoding transcript |
Het |
| Gm1758 |
A |
T |
16: 14,325,036 (GRCm39) |
|
noncoding transcript |
Het |
| Gna13 |
T |
C |
11: 109,254,455 (GRCm39) |
|
probably benign |
Het |
| H2bc13 |
T |
C |
13: 21,900,088 (GRCm39) |
S76G |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,446,718 (GRCm39) |
I1689T |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,009,286 (GRCm39) |
I102T |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,118,114 (GRCm39) |
Y121D |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,256,784 (GRCm39) |
V1509A |
possibly damaging |
Het |
| Ifitm5 |
G |
T |
7: 140,530,077 (GRCm39) |
R16S |
probably benign |
Het |
| Il1rap |
A |
C |
16: 26,513,984 (GRCm39) |
D239A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcna6 |
T |
C |
6: 126,715,519 (GRCm39) |
I457V |
probably damaging |
Het |
| Kctd17 |
T |
A |
15: 78,317,224 (GRCm39) |
L47Q |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,363,601 (GRCm39) |
S177P |
possibly damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,006,327 (GRCm39) |
D1266G |
probably benign |
Het |
| Map3k2 |
G |
T |
18: 32,361,203 (GRCm39) |
M554I |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,797,124 (GRCm39) |
V1331E |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,373,400 (GRCm39) |
I775T |
probably damaging |
Het |
| Mybl2 |
A |
G |
2: 162,916,683 (GRCm39) |
K7E |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,338,398 (GRCm39) |
S1137P |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,117,055 (GRCm39) |
I260V |
probably damaging |
Het |
| Or13c7 |
A |
T |
4: 43,854,323 (GRCm39) |
N5Y |
probably benign |
Het |
| Or9g4 |
A |
C |
2: 85,504,842 (GRCm39) |
Y218D |
probably damaging |
Het |
| Or9s23 |
G |
T |
1: 92,501,207 (GRCm39) |
A105S |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,869,542 (GRCm39) |
A114V |
possibly damaging |
Het |
| Plac8l1 |
T |
A |
18: 42,311,973 (GRCm39) |
I149F |
possibly damaging |
Het |
| Pou6f1 |
T |
A |
15: 100,476,293 (GRCm39) |
N531I |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,264,701 (GRCm39) |
Y712C |
probably damaging |
Het |
| Ptbp3 |
T |
C |
4: 59,514,297 (GRCm39) |
T43A |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,730,644 (GRCm39) |
|
probably null |
Het |
| Rnf135 |
T |
C |
11: 80,087,775 (GRCm39) |
|
probably null |
Het |
| Rusf1 |
A |
T |
7: 127,887,374 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,005,951 (GRCm39) |
L379P |
probably damaging |
Het |
| Sh2d6 |
T |
A |
6: 72,494,581 (GRCm39) |
T124S |
probably benign |
Het |
| Slc26a5 |
G |
A |
5: 22,042,992 (GRCm39) |
P153S |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,588,822 (GRCm39) |
F275S |
possibly damaging |
Het |
| Snx14 |
A |
G |
9: 88,276,495 (GRCm39) |
S606P |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,255,805 (GRCm39) |
I648K |
possibly damaging |
Het |
| Spon2 |
T |
C |
5: 33,371,904 (GRCm39) |
T301A |
probably damaging |
Het |
| Srpra |
C |
T |
9: 35,124,447 (GRCm39) |
T48I |
probably benign |
Het |
| Taar9 |
G |
A |
10: 23,985,408 (GRCm39) |
P9S |
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,672,405 (GRCm39) |
S274R |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,617,376 (GRCm39) |
S348P |
possibly damaging |
Het |
| Timd2 |
G |
T |
11: 46,578,008 (GRCm39) |
T41K |
probably damaging |
Het |
| Tmem132a |
T |
A |
19: 10,842,857 (GRCm39) |
E206V |
probably damaging |
Het |
| Tmt1a3 |
A |
G |
15: 100,232,889 (GRCm39) |
M27V |
probably benign |
Het |
| Tpi1 |
A |
T |
6: 124,789,544 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
T |
G |
1: 191,729,765 (GRCm39) |
T429P |
probably benign |
Het |
| Trav4-3 |
A |
G |
14: 53,836,615 (GRCm39) |
S27G |
possibly damaging |
Het |
| Tubd1 |
T |
C |
11: 86,457,895 (GRCm39) |
M462T |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,860,120 (GRCm39) |
D314G |
probably damaging |
Het |
| Utp25 |
T |
A |
1: 192,796,116 (GRCm39) |
Q50L |
probably null |
Het |
| Vmn2r58 |
G |
T |
7: 41,514,495 (GRCm39) |
T158K |
probably damaging |
Het |
| Vmn2r68 |
C |
A |
7: 84,883,648 (GRCm39) |
M152I |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,325,658 (GRCm39) |
E92G |
probably damaging |
Het |
| Wdr20rt |
T |
C |
12: 65,273,395 (GRCm39) |
V113A |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,768,546 (GRCm39) |
H561R |
probably damaging |
Het |
| Zfp804a |
T |
A |
2: 82,066,186 (GRCm39) |
D52E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGCCAAGTGTGAGGATG -3'
(R):5'- TACCCAAGCTACAGTCTGCC -3'
Sequencing Primer
(F):5'- CAAGTGTGAGGATGTTGGTAGGTAAC -3'
(R):5'- AAGCTACAGTCTGCCCTGGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation