Incidental Mutation 'R5638:Skint8'
ID |
440479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint8
|
Ensembl Gene |
ENSMUSG00000078599 |
Gene Name |
selection and upkeep of intraepithelial T cells 8 |
Synonyms |
OTTMUSG00000009475 |
MMRRC Submission |
043168-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5638 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 111807390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 359
(L359M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165046]
|
AlphaFold |
A7XV07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165046
AA Change: L359M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133268 Gene: ENSMUSG00000078599 AA Change: L359M
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
G |
A |
10: 76,288,729 (GRCm39) |
A96T |
probably benign |
Het |
A930018M24Rik |
T |
C |
14: 51,134,414 (GRCm39) |
D76G |
possibly damaging |
Het |
Adamtsl3 |
A |
T |
7: 82,260,958 (GRCm39) |
R1631W |
probably damaging |
Het |
Alg5 |
C |
T |
3: 54,646,254 (GRCm39) |
H40Y |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,949,095 (GRCm39) |
L270P |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,893,860 (GRCm39) |
Y457C |
probably damaging |
Het |
Cenpa |
A |
T |
5: 30,830,736 (GRCm39) |
R124W |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,275,894 (GRCm39) |
T1385A |
possibly damaging |
Het |
Chd9 |
A |
T |
8: 91,738,078 (GRCm39) |
H1570L |
possibly damaging |
Het |
Cmtm4 |
T |
C |
8: 105,084,356 (GRCm39) |
I113V |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,024,693 (GRCm39) |
I1789T |
possibly damaging |
Het |
Dpf3 |
G |
A |
12: 83,371,714 (GRCm39) |
R174W |
probably damaging |
Het |
Dusp26 |
T |
C |
8: 31,584,169 (GRCm39) |
L92P |
probably damaging |
Het |
Fndc7 |
T |
A |
3: 108,770,208 (GRCm39) |
T659S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,282,546 (GRCm39) |
H357R |
possibly damaging |
Het |
G0s2 |
A |
T |
1: 192,954,859 (GRCm39) |
L75H |
probably damaging |
Het |
Gm5493 |
A |
G |
17: 22,969,065 (GRCm39) |
T82A |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,854,164 (GRCm39) |
V3690A |
probably benign |
Het |
Igf2bp3 |
C |
A |
6: 49,064,734 (GRCm39) |
V537F |
probably damaging |
Het |
Kntc1 |
C |
T |
5: 123,956,538 (GRCm39) |
R2101W |
possibly damaging |
Het |
Kpna2rt |
T |
C |
17: 90,217,635 (GRCm39) |
E37G |
probably damaging |
Het |
Mrgpra6 |
G |
T |
7: 46,835,657 (GRCm39) |
P255T |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,125,364 (GRCm39) |
V229A |
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or6c210 |
T |
A |
10: 129,495,969 (GRCm39) |
I98K |
possibly damaging |
Het |
Or7g21 |
T |
A |
9: 19,032,676 (GRCm39) |
C142S |
probably benign |
Het |
Ppt2 |
C |
A |
17: 34,844,823 (GRCm39) |
M140I |
probably benign |
Het |
Ppwd1 |
A |
G |
13: 104,356,906 (GRCm39) |
I203T |
probably damaging |
Het |
Prpf6 |
A |
G |
2: 181,287,381 (GRCm39) |
T589A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,287,427 (GRCm39) |
L453P |
probably benign |
Het |
Ptpn14 |
A |
G |
1: 189,519,038 (GRCm39) |
T23A |
probably damaging |
Het |
Rxrb |
T |
C |
17: 34,256,381 (GRCm39) |
L374P |
probably damaging |
Het |
Scaf4 |
T |
C |
16: 90,041,198 (GRCm39) |
E710G |
unknown |
Het |
Sik1 |
C |
T |
17: 32,069,802 (GRCm39) |
V216I |
probably damaging |
Het |
Slc30a5 |
T |
A |
13: 100,950,380 (GRCm39) |
K236* |
probably null |
Het |
Slc38a4 |
A |
C |
15: 96,910,871 (GRCm39) |
S135A |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,139,571 (GRCm39) |
V263D |
probably damaging |
Het |
Socs2 |
T |
C |
10: 95,228,745 (GRCm39) |
I168M |
unknown |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,469,825 (GRCm39) |
S4508P |
possibly damaging |
Het |
Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
Stip1 |
G |
A |
19: 7,009,883 (GRCm39) |
P213L |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,177,425 (GRCm39) |
L749Q |
probably damaging |
Het |
Thsd7b |
T |
G |
1: 129,523,270 (GRCm39) |
S24R |
probably benign |
Het |
Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
Vmn2r65 |
C |
T |
7: 84,590,047 (GRCm39) |
C623Y |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,258,799 (GRCm39) |
V742A |
probably damaging |
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 |
IGL02973:Skint8
|
APN |
4 |
111,796,790 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTTGGTAGCATGCAAAGG -3'
(R):5'- TTCTGTGCTAGAAGACCTAGGC -3'
Sequencing Primer
(F):5'- GTTGAACCTATAGTACACAATCTCAC -3'
(R):5'- TCTGTGCTAGAAGACCTAGGCAAATG -3'
|
Posted On |
2016-11-08 |