Incidental Mutation 'IGL02413:Vsig8'
| ID |
292338 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vsig8
|
| Ensembl Gene |
ENSMUSG00000049598 |
| Gene Name |
V-set and immunoglobulin domain containing 8 |
| Synonyms |
EG240916 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172383505-172391284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 172387943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 11
(Y11S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061835]
[ENSMUST00000177086]
|
| AlphaFold |
Q6P3A4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061835
AA Change: Y123S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058008
Gene: ENSMUSG00000049598
AA Change: Y123S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
29 |
142 |
1.22e-7 |
SMART |
|
IGc2
|
157 |
245 |
3.3e-4 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177086
AA Change: Y11S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134997
Gene: ENSMUSG00000049598
AA Change: Y11S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
1 |
30 |
5e-11 |
BLAST |
|
IGc2
|
45 |
133 |
3.3e-4 |
SMART |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
| Other mutations in Vsig8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Vsig8
|
APN |
1 |
172,389,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03172:Vsig8
|
APN |
1 |
172,387,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Vsig8
|
UTSW |
1 |
172,387,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0042:Vsig8
|
UTSW |
1 |
172,387,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0280:Vsig8
|
UTSW |
1 |
172,389,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1615:Vsig8
|
UTSW |
1 |
172,387,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2078:Vsig8
|
UTSW |
1 |
172,390,856 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4425:Vsig8
|
UTSW |
1 |
172,390,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Vsig8
|
UTSW |
1 |
172,388,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4822:Vsig8
|
UTSW |
1 |
172,387,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Vsig8
|
UTSW |
1 |
172,389,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5323:Vsig8
|
UTSW |
1 |
172,388,244 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5430:Vsig8
|
UTSW |
1 |
172,387,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Vsig8
|
UTSW |
1 |
172,387,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6766:Vsig8
|
UTSW |
1 |
172,388,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7276:Vsig8
|
UTSW |
1 |
172,390,850 (GRCm39) |
nonsense |
probably null |
|
|
R8230:Vsig8
|
UTSW |
1 |
172,389,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Vsig8
|
UTSW |
1 |
172,388,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0062:Vsig8
|
UTSW |
1 |
172,387,825 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Vsig8
|
UTSW |
1 |
172,390,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation