Incidental Mutation 'R5639:Skint8'
ID |
440530 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint8
|
Ensembl Gene |
ENSMUSG00000078599 |
Gene Name |
selection and upkeep of intraepithelial T cells 8 |
Synonyms |
OTTMUSG00000009475 |
MMRRC Submission |
043288-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5639 (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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,769,866 (GRCm39) |
Y322H |
probably benign |
Het |
Aldh1a1 |
C |
A |
19: 20,600,786 (GRCm39) |
T201K |
probably damaging |
Het |
Ankrd26 |
T |
C |
6: 118,516,685 (GRCm39) |
E493G |
possibly damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Bicc1 |
A |
T |
10: 70,776,350 (GRCm39) |
V701E |
probably damaging |
Het |
Car11 |
T |
A |
7: 45,352,045 (GRCm39) |
|
probably null |
Het |
Ccn1 |
A |
C |
3: 145,354,452 (GRCm39) |
V153G |
probably damaging |
Het |
Celsr1 |
C |
G |
15: 85,914,968 (GRCm39) |
V1002L |
probably damaging |
Het |
Clpx |
T |
A |
9: 65,237,112 (GRCm39) |
S597T |
probably benign |
Het |
Cplx3 |
A |
T |
9: 57,519,149 (GRCm39) |
F266I |
probably benign |
Het |
Dmpk |
A |
G |
7: 18,826,525 (GRCm39) |
M545V |
probably benign |
Het |
Dnah7c |
C |
G |
1: 46,778,828 (GRCm39) |
D3139E |
probably benign |
Het |
Drd5 |
T |
A |
5: 38,477,178 (GRCm39) |
V57D |
possibly damaging |
Het |
Epc2 |
A |
G |
2: 49,341,903 (GRCm39) |
N29S |
possibly damaging |
Het |
Ercc3 |
T |
C |
18: 32,398,767 (GRCm39) |
V682A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,844,931 (GRCm39) |
K438E |
unknown |
Het |
Farp1 |
T |
A |
14: 121,512,794 (GRCm39) |
I764N |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,794,250 (GRCm39) |
I209F |
probably benign |
Het |
Fndc3b |
C |
T |
3: 27,480,302 (GRCm39) |
V1065M |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gp6 |
C |
A |
7: 4,397,130 (GRCm39) |
D102Y |
probably damaging |
Het |
Gpc5 |
T |
C |
14: 115,330,179 (GRCm39) |
L114P |
probably benign |
Het |
Kcnq3 |
T |
A |
15: 65,869,599 (GRCm39) |
E613V |
probably damaging |
Het |
Krt74 |
T |
G |
15: 101,665,195 (GRCm39) |
|
noncoding transcript |
Het |
Lipe |
T |
C |
7: 25,082,750 (GRCm39) |
T801A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,429,708 (GRCm39) |
V454A |
probably damaging |
Het |
Lsm14a |
T |
C |
7: 34,052,935 (GRCm39) |
D338G |
probably damaging |
Het |
Mctp1 |
T |
C |
13: 77,172,902 (GRCm39) |
|
silent |
Het |
Nlrp4a |
G |
A |
7: 26,156,455 (GRCm39) |
A727T |
probably benign |
Het |
Nrgn |
T |
C |
9: 37,457,344 (GRCm39) |
S48G |
probably benign |
Het |
Oga |
A |
G |
19: 45,765,438 (GRCm39) |
I123T |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,267,973 (GRCm39) |
S67P |
probably damaging |
Het |
Or4a73 |
T |
C |
2: 89,421,069 (GRCm39) |
Y130C |
probably damaging |
Het |
Or51f23 |
A |
G |
7: 102,453,200 (GRCm39) |
S172G |
probably benign |
Het |
Pdia6 |
A |
G |
12: 17,328,594 (GRCm39) |
E183G |
probably benign |
Het |
Pign |
T |
A |
1: 105,517,040 (GRCm39) |
I529F |
probably benign |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Samm50 |
T |
G |
15: 84,098,329 (GRCm39) |
I456S |
probably benign |
Het |
Sesn1 |
A |
G |
10: 41,687,267 (GRCm39) |
R84G |
probably benign |
Het |
Spag17 |
G |
T |
3: 99,963,482 (GRCm39) |
D1067Y |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,881,005 (GRCm39) |
Q425* |
probably null |
Het |
Srrm4 |
T |
A |
5: 116,729,418 (GRCm39) |
I36F |
unknown |
Het |
Tas1r2 |
A |
T |
4: 139,387,107 (GRCm39) |
S189C |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,091,062 (GRCm39) |
V690A |
possibly damaging |
Het |
Trmo |
T |
C |
4: 46,382,073 (GRCm39) |
K348R |
probably benign |
Het |
Trmu |
T |
A |
15: 85,766,899 (GRCm39) |
M36K |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,179,959 (GRCm39) |
T3380A |
possibly damaging |
Het |
Unc79 |
A |
C |
12: 103,137,831 (GRCm39) |
T2425P |
probably damaging |
Het |
Vmn2r12 |
G |
A |
5: 109,240,666 (GRCm39) |
T149I |
probably benign |
Het |
Vwa3a |
A |
C |
7: 120,389,366 (GRCm39) |
K68T |
probably damaging |
Het |
Yif1a |
T |
C |
19: 5,138,778 (GRCm39) |
|
probably null |
Het |
Zbtb44 |
A |
T |
9: 30,965,348 (GRCm39) |
T253S |
probably damaging |
Het |
Zdhhc3 |
T |
C |
9: 122,929,410 (GRCm39) |
Y75C |
probably damaging |
Het |
Zfp189 |
T |
A |
4: 49,530,153 (GRCm39) |
F419I |
probably benign |
Het |
Zfp663 |
T |
C |
2: 165,194,929 (GRCm39) |
D430G |
probably benign |
Het |
Zfp709 |
T |
G |
8: 72,643,835 (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 |
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 |
R5638: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'- GACATTTGGTAGCATGCAAAGG -3'
(R):5'- CTGTGCTAGAAGACCTAGGC -3'
Sequencing Primer
(F):5'- GTTGAACCTATAGTACACAATCTCAC -3'
(R):5'- AATCTTCTTCAAAGACATGGCCTC -3'
|
Posted On |
2016-11-08 |