Incidental Mutation 'IGL02973:Skint8'
| ID |
365893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skint8
|
| Ensembl Gene |
ENSMUSG00000078599 |
| Gene Name |
selection and upkeep of intraepithelial T cells 8 |
| Synonyms |
OTTMUSG00000009475 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL02973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111796790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 298
(V298A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106572]
[ENSMUST00000165046]
|
| AlphaFold |
A7XV07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106572
AA Change: V298A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: V298A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.13e-5 |
SMART |
|
Blast:IG_like
|
148 |
231 |
9e-16 |
BLAST |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124862
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165046
AA Change: V298A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: V298A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.13e-5 |
SMART |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
transmembrane domain
|
327 |
352 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
G |
2: 163,573,053 (GRCm39) |
L193P |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,995,314 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,500,511 (GRCm39) |
S987P |
probably damaging |
Het |
| Ap2a2 |
T |
C |
7: 141,211,277 (GRCm39) |
F938L |
possibly damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,296,803 (GRCm39) |
V754A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,088,336 (GRCm39) |
N314I |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,849 (GRCm39) |
V291A |
probably damaging |
Het |
| Ccm2 |
C |
A |
11: 6,534,544 (GRCm39) |
P19T |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,715,573 (GRCm39) |
A680S |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,960,376 (GRCm39) |
T276A |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,144,058 (GRCm39) |
R1976G |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,803,020 (GRCm39) |
D1315G |
unknown |
Het |
| Emilin1 |
T |
G |
5: 31,078,007 (GRCm39) |
L922R |
probably damaging |
Het |
| Fank1 |
T |
C |
7: 133,478,578 (GRCm39) |
L213P |
probably damaging |
Het |
| Foxc2 |
T |
C |
8: 121,844,788 (GRCm39) |
S479P |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,732,442 (GRCm39) |
R563H |
possibly damaging |
Het |
| Hoxb13 |
A |
G |
11: 96,085,669 (GRCm39) |
Y134C |
probably damaging |
Het |
| Krtap4-16 |
A |
T |
11: 99,742,167 (GRCm39) |
C78S |
possibly damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,824 (GRCm39) |
|
probably null |
Het |
| Lipe |
T |
C |
7: 25,083,057 (GRCm39) |
N740S |
probably damaging |
Het |
| Mbd1 |
C |
T |
18: 74,408,498 (GRCm39) |
|
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,203,721 (GRCm39) |
D1700G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,403,297 (GRCm39) |
Y338H |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,631 (GRCm39) |
D189G |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,239 (GRCm39) |
Y121C |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,646,546 (GRCm39) |
N1293S |
probably damaging |
Het |
| Ppm1e |
C |
A |
11: 87,131,488 (GRCm39) |
A302S |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,916 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,990,618 (GRCm39) |
W52R |
probably damaging |
Het |
| Tulp1 |
A |
T |
17: 28,577,516 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
A |
3: 141,494,651 (GRCm39) |
D321E |
probably benign |
Het |
| Usp16 |
G |
A |
16: 87,276,627 (GRCm39) |
C654Y |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,632,764 (GRCm39) |
W575* |
probably null |
Het |
| Wdr89 |
T |
G |
12: 75,679,873 (GRCm39) |
D127A |
probably damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
| Zfp942 |
A |
G |
17: 22,151,972 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Skint8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Skint8
|
APN |
4 |
111,796,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01411:Skint8
|
APN |
4 |
111,794,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03154:Skint8
|
APN |
4 |
111,796,707 (GRCm39) |
splice site |
probably null |
|
|
FR4976:Skint8
|
UTSW |
4 |
111,796,099 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0309:Skint8
|
UTSW |
4 |
111,796,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0448:Skint8
|
UTSW |
4 |
111,794,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Skint8
|
UTSW |
4 |
111,796,020 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Skint8
|
UTSW |
4 |
111,794,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Skint8
|
UTSW |
4 |
111,784,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Skint8
|
UTSW |
4 |
111,785,710 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1588:Skint8
|
UTSW |
4 |
111,785,924 (GRCm39) |
nonsense |
probably null |
|
|
R1707:Skint8
|
UTSW |
4 |
111,796,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Skint8
|
UTSW |
4 |
111,794,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Skint8
|
UTSW |
4 |
111,807,278 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2147:Skint8
|
UTSW |
4 |
111,794,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Skint8
|
UTSW |
4 |
111,807,333 (GRCm39) |
missense |
probably null |
|
|
R4945:Skint8
|
UTSW |
4 |
111,796,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5019:Skint8
|
UTSW |
4 |
111,785,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5281:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5284:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5289:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5309:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5310:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5588:Skint8
|
UTSW |
4 |
111,794,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5636:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5637:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5638:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5639:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5719:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5720:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Skint8
|
UTSW |
4 |
111,807,387 (GRCm39) |
missense |
probably benign |
|
|
R5850:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5855:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6036:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6525:Skint8
|
UTSW |
4 |
111,785,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6554:Skint8
|
UTSW |
4 |
111,784,413 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6578:Skint8
|
UTSW |
4 |
111,794,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6841:Skint8
|
UTSW |
4 |
111,785,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Skint8
|
UTSW |
4 |
111,794,222 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7317:Skint8
|
UTSW |
4 |
111,796,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7336:Skint8
|
UTSW |
4 |
111,796,769 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7412:Skint8
|
UTSW |
4 |
111,785,758 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7480:Skint8
|
UTSW |
4 |
111,785,784 (GRCm39) |
nonsense |
probably null |
|
|
R8027:Skint8
|
UTSW |
4 |
111,785,936 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8204:Skint8
|
UTSW |
4 |
111,796,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8963:Skint8
|
UTSW |
4 |
111,794,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9084:Skint8
|
UTSW |
4 |
111,794,210 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9249:Skint8
|
UTSW |
4 |
111,794,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9283:Skint8
|
UTSW |
4 |
111,785,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Skint8
|
UTSW |
4 |
111,794,251 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2015-12-18 |
Incidental Mutation