Incidental Mutation 'R1588:Skint8'
| ID |
177628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint8
|
| Ensembl Gene |
ENSMUSG00000078599 |
| Gene Name |
selection and upkeep of intraepithelial T cells 8 |
| Synonyms |
OTTMUSG00000009475 |
| MMRRC Submission |
039625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1588 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 111785924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 123
(C123*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106572]
[ENSMUST00000165046]
|
| AlphaFold |
A7XV07 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106572
AA Change: C123*
|
| SMART Domains |
Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: C123*
| 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 |
noncoding transcript
Transcript: ENSMUST00000129547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147395
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165046
AA Change: C123*
|
| SMART Domains |
Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: C123*
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Adamts13 |
A |
T |
2: 26,865,687 (GRCm39) |
I81F |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,747,685 (GRCm39) |
N1567K |
possibly damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,391,484 (GRCm39) |
T261M |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,959,999 (GRCm39) |
I326V |
probably benign |
Het |
| Casp8ap2 |
G |
A |
4: 32,640,541 (GRCm39) |
A532T |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,019,337 (GRCm39) |
T187A |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,917,039 (GRCm39) |
N359D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,748,184 (GRCm39) |
L82P |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,440,444 (GRCm39) |
R404S |
probably benign |
Het |
| Chrng |
C |
A |
1: 87,135,229 (GRCm39) |
F179L |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,391 (GRCm39) |
I326K |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,302,002 (GRCm39) |
T243A |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,715,900 (GRCm39) |
V1502A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,640 (GRCm39) |
V216A |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,174,230 (GRCm39) |
V2161G |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,161,034 (GRCm39) |
T2169A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,196,043 (GRCm39) |
V581A |
unknown |
Het |
| Hip1r |
A |
T |
5: 124,134,638 (GRCm39) |
D350V |
probably damaging |
Het |
| Ift140 |
G |
A |
17: 25,306,959 (GRCm39) |
R898H |
probably damaging |
Het |
| Il12a |
A |
G |
3: 68,602,896 (GRCm39) |
I159V |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,955,488 (GRCm39) |
E1032G |
possibly damaging |
Het |
| Kl |
A |
G |
5: 150,906,097 (GRCm39) |
E489G |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,161,712 (GRCm39) |
E461G |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,313,404 (GRCm39) |
Y177C |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,031 (GRCm39) |
Y187N |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,167,785 (GRCm39) |
V1002A |
probably benign |
Het |
| Ntaq1 |
T |
A |
15: 58,021,285 (GRCm39) |
|
probably null |
Het |
| Ntrk1 |
A |
T |
3: 87,687,384 (GRCm39) |
Y683* |
probably null |
Het |
| Or11g26 |
A |
G |
14: 50,753,584 (GRCm39) |
I308V |
probably benign |
Het |
| Or13j1 |
C |
T |
4: 43,705,923 (GRCm39) |
C215Y |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or8k21 |
T |
C |
2: 86,144,874 (GRCm39) |
Y252C |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,560 (GRCm39) |
V367A |
probably benign |
Het |
| Phip |
A |
G |
9: 82,782,881 (GRCm39) |
W855R |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,115 (GRCm39) |
S1131G |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,701,442 (GRCm39) |
V1498E |
probably benign |
Het |
| Pramel22 |
G |
T |
4: 143,382,121 (GRCm39) |
L192M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,908,420 (GRCm39) |
N152D |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,052,558 (GRCm39) |
V732M |
probably damaging |
Het |
| Rccd1 |
C |
T |
7: 79,969,859 (GRCm39) |
W223* |
probably null |
Het |
| Riox2 |
T |
A |
16: 59,295,946 (GRCm39) |
S16T |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,350,367 (GRCm39) |
V836I |
probably damaging |
Het |
| Serpinf1 |
G |
A |
11: 75,301,076 (GRCm39) |
R380C |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,040,488 (GRCm39) |
C134S |
probably damaging |
Het |
| Slc16a13 |
G |
T |
11: 70,109,421 (GRCm39) |
S360* |
probably null |
Het |
| Srr |
A |
G |
11: 74,799,629 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,873,565 (GRCm39) |
F607L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,539,870 (GRCm39) |
D34372G |
probably benign |
Het |
| Tub |
C |
T |
7: 108,628,888 (GRCm39) |
T401I |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,493,693 (GRCm39) |
E9G |
probably damaging |
Het |
| Yipf3 |
T |
A |
17: 46,561,787 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,460,791 (GRCm39) |
R447K |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-04-24 |
Incidental Mutation