Incidental Mutation 'IGL01319:Vsig10l'
ID |
73966 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vsig10l
|
Ensembl Gene |
ENSMUSG00000070604 |
Gene Name |
V-set and immunoglobulin domain containing 10 like |
Synonyms |
2210412E05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL01319
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43112575-43121443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43114678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 293
(S293L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107977]
[ENSMUST00000203042]
[ENSMUST00000203633]
[ENSMUST00000203769]
[ENSMUST00000204680]
|
AlphaFold |
D3YZF7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107977
AA Change: S395L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103611 Gene: ENSMUSG00000070604 AA Change: S395L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
IG
|
183 |
285 |
1.92e0 |
SMART |
IG
|
298 |
383 |
2.15e-3 |
SMART |
IGc2
|
406 |
465 |
4.19e-6 |
SMART |
Blast:IG_like
|
582 |
649 |
1e-13 |
BLAST |
transmembrane domain
|
764 |
786 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203152
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203633
|
SMART Domains |
Protein: ENSMUSP00000145061 Gene: ENSMUSG00000107482
Domain | Start | End | E-Value | Type |
ETF
|
26 |
216 |
2.7e-65 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203769
AA Change: S293L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144692 Gene: ENSMUSG00000070604 AA Change: S293L
Domain | Start | End | E-Value | Type |
IG
|
81 |
183 |
8.1e-3 |
SMART |
IG
|
196 |
281 |
9.2e-6 |
SMART |
IGc2
|
304 |
363 |
1.8e-8 |
SMART |
Blast:IG_like
|
480 |
547 |
9e-14 |
BLAST |
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204680
|
SMART Domains |
Protein: ENSMUSP00000145493 Gene: ENSMUSG00000107482
Domain | Start | End | E-Value | Type |
ETF
|
26 |
168 |
2.4e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205247
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
T |
A |
3: 40,888,077 (GRCm39) |
V307E |
probably benign |
Het |
Bub1b |
T |
C |
2: 118,445,475 (GRCm39) |
I265T |
possibly damaging |
Het |
Cemip2 |
C |
T |
19: 21,822,121 (GRCm39) |
P1172L |
possibly damaging |
Het |
Cntnap3 |
G |
A |
13: 64,935,651 (GRCm39) |
T404I |
probably damaging |
Het |
Disc1 |
T |
C |
8: 125,814,630 (GRCm39) |
S165P |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,391,007 (GRCm39) |
F756L |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,589,617 (GRCm39) |
V480A |
possibly damaging |
Het |
Drc3 |
A |
G |
11: 60,255,788 (GRCm39) |
D125G |
probably null |
Het |
Emid1 |
C |
T |
11: 5,093,859 (GRCm39) |
C96Y |
probably damaging |
Het |
F13b |
A |
G |
1: 139,434,531 (GRCm39) |
N99S |
probably damaging |
Het |
Fam20a |
A |
G |
11: 109,569,284 (GRCm39) |
|
probably benign |
Het |
Fancd2 |
C |
A |
6: 113,561,860 (GRCm39) |
T1243K |
probably damaging |
Het |
Fbxw14 |
T |
C |
9: 109,107,859 (GRCm39) |
K172E |
probably damaging |
Het |
Gm13941 |
T |
C |
2: 110,925,150 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
T |
13: 9,035,296 (GRCm39) |
N354K |
probably benign |
Het |
Igkv2-116 |
T |
C |
6: 68,129,388 (GRCm39) |
L50P |
probably benign |
Het |
Klrb1-ps1 |
C |
T |
6: 129,093,548 (GRCm39) |
P23L |
possibly damaging |
Het |
Kng2 |
T |
A |
16: 22,847,584 (GRCm39) |
I26F |
probably damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,012,840 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
C |
T |
7: 80,010,880 (GRCm39) |
V704M |
possibly damaging |
Het |
Mbip |
A |
G |
12: 56,377,027 (GRCm39) |
V303A |
probably benign |
Het |
Mipep |
A |
T |
14: 61,080,720 (GRCm39) |
M571L |
probably benign |
Het |
Ncan |
A |
T |
8: 70,550,212 (GRCm39) |
V1188D |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,441,566 (GRCm39) |
V292A |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,806,893 (GRCm39) |
|
probably benign |
Het |
Ppp2r2c |
T |
A |
5: 37,104,465 (GRCm39) |
S282T |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,596,245 (GRCm39) |
G231D |
probably benign |
Het |
Rnf20 |
T |
G |
4: 49,649,326 (GRCm39) |
D443E |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,781,996 (GRCm39) |
M1108V |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,227,278 (GRCm39) |
|
probably benign |
Het |
Shank1 |
C |
A |
7: 44,002,547 (GRCm39) |
A1422E |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,277,498 (GRCm39) |
H491R |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,284,288 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
T |
C |
2: 127,072,047 (GRCm39) |
|
probably benign |
Het |
Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 38,994,907 (GRCm39) |
I178V |
probably benign |
Het |
Triml1 |
A |
G |
8: 43,594,434 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
A |
T |
6: 115,553,945 (GRCm39) |
Q441L |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,509,492 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,711,648 (GRCm39) |
|
probably benign |
Het |
Zcchc13 |
C |
A |
X: 102,674,606 (GRCm39) |
Q110K |
possibly damaging |
Het |
|
Other mutations in Vsig10l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01390:Vsig10l
|
APN |
7 |
43,115,889 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02401:Vsig10l
|
APN |
7 |
43,113,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02404:Vsig10l
|
APN |
7 |
43,113,171 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02514:Vsig10l
|
APN |
7 |
43,113,338 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02636:Vsig10l
|
APN |
7 |
43,113,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02805:Vsig10l
|
APN |
7 |
43,114,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02823:Vsig10l
|
APN |
7 |
43,115,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02827:Vsig10l
|
APN |
7 |
43,114,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Vsig10l
|
UTSW |
7 |
43,117,525 (GRCm39) |
missense |
probably damaging |
0.97 |
R0394:Vsig10l
|
UTSW |
7 |
43,114,879 (GRCm39) |
missense |
probably damaging |
0.97 |
R0465:Vsig10l
|
UTSW |
7 |
43,116,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Vsig10l
|
UTSW |
7 |
43,113,561 (GRCm39) |
missense |
probably damaging |
0.97 |
R1689:Vsig10l
|
UTSW |
7 |
43,114,792 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1991:Vsig10l
|
UTSW |
7 |
43,116,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2103:Vsig10l
|
UTSW |
7 |
43,116,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2358:Vsig10l
|
UTSW |
7 |
43,118,185 (GRCm39) |
missense |
probably benign |
0.00 |
R3015:Vsig10l
|
UTSW |
7 |
43,116,881 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4024:Vsig10l
|
UTSW |
7 |
43,117,510 (GRCm39) |
missense |
probably benign |
0.33 |
R4031:Vsig10l
|
UTSW |
7 |
43,114,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Vsig10l
|
UTSW |
7 |
43,113,173 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5020:Vsig10l
|
UTSW |
7 |
43,114,741 (GRCm39) |
nonsense |
probably null |
|
R5261:Vsig10l
|
UTSW |
7 |
43,120,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5317:Vsig10l
|
UTSW |
7 |
43,114,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Vsig10l
|
UTSW |
7 |
43,114,247 (GRCm39) |
missense |
probably damaging |
0.97 |
R5656:Vsig10l
|
UTSW |
7 |
43,113,575 (GRCm39) |
nonsense |
probably null |
|
R5842:Vsig10l
|
UTSW |
7 |
43,118,396 (GRCm39) |
missense |
probably benign |
0.15 |
R6012:Vsig10l
|
UTSW |
7 |
43,117,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Vsig10l
|
UTSW |
7 |
43,118,396 (GRCm39) |
missense |
probably benign |
0.15 |
R6309:Vsig10l
|
UTSW |
7 |
43,120,397 (GRCm39) |
splice site |
probably null |
|
R6994:Vsig10l
|
UTSW |
7 |
43,114,491 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7250:Vsig10l
|
UTSW |
7 |
43,113,099 (GRCm39) |
missense |
probably benign |
|
R7397:Vsig10l
|
UTSW |
7 |
43,117,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R7767:Vsig10l
|
UTSW |
7 |
43,113,141 (GRCm39) |
missense |
probably damaging |
0.96 |
R7956:Vsig10l
|
UTSW |
7 |
43,117,494 (GRCm39) |
missense |
probably benign |
|
R8086:Vsig10l
|
UTSW |
7 |
43,114,876 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8139:Vsig10l
|
UTSW |
7 |
43,113,153 (GRCm39) |
missense |
probably benign |
0.00 |
R8297:Vsig10l
|
UTSW |
7 |
43,113,531 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8341:Vsig10l
|
UTSW |
7 |
43,113,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R8519:Vsig10l
|
UTSW |
7 |
43,114,326 (GRCm39) |
missense |
probably benign |
0.33 |
R8925:Vsig10l
|
UTSW |
7 |
43,116,020 (GRCm39) |
missense |
probably benign |
0.41 |
R8927:Vsig10l
|
UTSW |
7 |
43,116,020 (GRCm39) |
missense |
probably benign |
0.41 |
R8948:Vsig10l
|
UTSW |
7 |
43,117,623 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9157:Vsig10l
|
UTSW |
7 |
43,112,948 (GRCm39) |
missense |
|
|
R9203:Vsig10l
|
UTSW |
7 |
43,112,657 (GRCm39) |
start codon destroyed |
probably null |
|
R9481:Vsig10l
|
UTSW |
7 |
43,112,795 (GRCm39) |
nonsense |
probably null |
|
X0028:Vsig10l
|
UTSW |
7 |
43,112,788 (GRCm39) |
utr 3 prime |
probably benign |
|
X0067:Vsig10l
|
UTSW |
7 |
43,116,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |