Incidental Mutation 'R5636:Skint8'
ID |
440361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint8
|
Ensembl Gene |
ENSMUSG00000078599 |
Gene Name |
selection and upkeep of intraepithelial T cells 8 |
Synonyms |
OTTMUSG00000009475 |
MMRRC Submission |
043287-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5636 (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: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
T |
19: 31,922,382 (GRCm39) |
Q448* |
probably null |
Het |
Abca5 |
A |
G |
11: 110,192,362 (GRCm39) |
Y717H |
probably benign |
Het |
Abcg2 |
T |
A |
6: 58,649,041 (GRCm39) |
D295E |
probably damaging |
Het |
Accsl |
C |
T |
2: 93,699,370 (GRCm39) |
E7K |
probably benign |
Het |
Acvr2b |
A |
G |
9: 119,257,375 (GRCm39) |
Y152C |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,354,120 (GRCm39) |
E1747G |
probably damaging |
Het |
Arpp19 |
C |
T |
9: 74,945,215 (GRCm39) |
|
probably benign |
Het |
Atp10d |
A |
G |
5: 72,445,562 (GRCm39) |
Y74C |
probably damaging |
Het |
Atp6v0b |
T |
C |
4: 117,743,582 (GRCm39) |
|
probably benign |
Het |
Bms1 |
C |
A |
6: 118,365,786 (GRCm39) |
M1133I |
probably benign |
Het |
Bysl |
A |
C |
17: 47,913,648 (GRCm39) |
D259E |
probably benign |
Het |
Capn1 |
A |
T |
19: 6,064,472 (GRCm39) |
V9E |
probably benign |
Het |
Cdkl2 |
T |
C |
5: 92,181,601 (GRCm39) |
I127V |
probably benign |
Het |
Cyp2c38 |
G |
A |
19: 39,426,750 (GRCm39) |
Q184* |
probably null |
Het |
Cypt12 |
C |
T |
3: 18,002,749 (GRCm39) |
R41C |
probably benign |
Het |
Dnaaf11 |
A |
T |
15: 66,372,665 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
C |
11: 55,173,307 (GRCm39) |
I2469V |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,644,089 (GRCm39) |
V923A |
possibly damaging |
Het |
Gm13889 |
A |
G |
2: 93,787,031 (GRCm39) |
C148R |
probably damaging |
Het |
Gpd1 |
A |
T |
15: 99,619,939 (GRCm39) |
T223S |
probably benign |
Het |
Hcrtr1 |
C |
A |
4: 130,024,738 (GRCm39) |
G383C |
possibly damaging |
Het |
Hivep1 |
C |
T |
13: 42,316,932 (GRCm39) |
P2047S |
possibly damaging |
Het |
Islr2 |
T |
C |
9: 58,108,584 (GRCm39) |
T35A |
probably benign |
Het |
Lgr6 |
T |
C |
1: 134,914,816 (GRCm39) |
D644G |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,695,480 (GRCm39) |
T1173I |
probably damaging |
Het |
Mon1a |
T |
C |
9: 107,778,439 (GRCm39) |
V221A |
probably damaging |
Het |
Mrgprb4 |
A |
G |
7: 47,848,218 (GRCm39) |
C237R |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,836,687 (GRCm39) |
M264T |
probably damaging |
Het |
Naxd |
A |
G |
8: 11,552,676 (GRCm39) |
N32S |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,273,926 (GRCm39) |
L1010Q |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,885,637 (GRCm39) |
K755* |
probably null |
Het |
Or2av9 |
T |
C |
11: 58,380,877 (GRCm39) |
K235E |
probably damaging |
Het |
Or9i2 |
C |
T |
19: 13,815,701 (GRCm39) |
V279M |
possibly damaging |
Het |
Pik3ca |
G |
A |
3: 32,515,709 (GRCm39) |
R794Q |
probably damaging |
Het |
Pnp2 |
A |
G |
14: 51,193,649 (GRCm39) |
|
probably null |
Het |
Ric3 |
G |
A |
7: 108,638,027 (GRCm39) |
T242I |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,327,731 (GRCm39) |
Q1906P |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,327,455 (GRCm39) |
R1814K |
probably benign |
Het |
Rufy2 |
T |
A |
10: 62,833,733 (GRCm39) |
I265N |
probably damaging |
Het |
Scap |
G |
T |
9: 110,209,662 (GRCm39) |
G744C |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,202,744 (GRCm39) |
Q88R |
possibly damaging |
Het |
Sf3b1 |
T |
C |
1: 55,036,352 (GRCm39) |
D907G |
probably damaging |
Het |
Slc4a3 |
C |
T |
1: 75,530,860 (GRCm39) |
L749F |
possibly damaging |
Het |
Smtn |
T |
G |
11: 3,467,829 (GRCm39) |
|
probably null |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sptbn5 |
G |
A |
2: 119,887,885 (GRCm39) |
|
probably benign |
Het |
Stam |
G |
T |
2: 14,122,238 (GRCm39) |
M112I |
probably damaging |
Het |
Tex35 |
C |
T |
1: 156,927,794 (GRCm39) |
W125* |
probably null |
Het |
Tmem215 |
A |
G |
4: 40,474,394 (GRCm39) |
E157G |
probably damaging |
Het |
Traf6 |
G |
A |
2: 101,527,254 (GRCm39) |
V335M |
probably benign |
Het |
Ubr5 |
T |
A |
15: 37,984,240 (GRCm39) |
K2302N |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,603,637 (GRCm39) |
H605R |
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 |
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 |
|
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 |