Incidental Mutation 'R1076:Skint8'
ID |
85641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint8
|
Ensembl Gene |
ENSMUSG00000078599 |
Gene Name |
selection and upkeep of intraepithelial T cells 8 |
Synonyms |
OTTMUSG00000009475 |
MMRRC Submission |
039162-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R1076 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111784416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 14
(V14E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106572]
[ENSMUST00000165046]
|
AlphaFold |
A7XV07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106572
AA Change: V14E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102182 Gene: ENSMUSG00000078599 AA Change: V14E
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 damaging
Transcript: ENSMUST00000165046
AA Change: V14E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133268 Gene: ENSMUSG00000078599 AA Change: V14E
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: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang4 |
T |
C |
14: 52,001,759 (GRCm39) |
K63R |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,509,071 (GRCm39) |
N176D |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
Cldn4 |
A |
G |
5: 134,975,191 (GRCm39) |
S137P |
probably damaging |
Het |
Cnn1 |
A |
T |
9: 22,019,165 (GRCm39) |
Q157L |
probably damaging |
Het |
Csn1s1 |
A |
T |
5: 87,824,242 (GRCm39) |
|
probably null |
Het |
Dennd3 |
C |
T |
15: 73,412,582 (GRCm39) |
H415Y |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,292,582 (GRCm39) |
|
probably benign |
Het |
Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,343,583 (GRCm39) |
V115A |
possibly damaging |
Het |
Fryl |
C |
T |
5: 73,282,016 (GRCm39) |
|
probably benign |
Het |
Gsap |
A |
G |
5: 21,492,692 (GRCm39) |
T707A |
possibly damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,932,095 (GRCm39) |
M674K |
probably damaging |
Het |
Larp4 |
A |
G |
15: 99,895,311 (GRCm39) |
T295A |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,399,666 (GRCm39) |
|
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
Mctp2 |
T |
G |
7: 71,835,615 (GRCm39) |
|
probably null |
Het |
Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
Neb |
A |
G |
2: 52,094,904 (GRCm39) |
Y4883H |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,014,283 (GRCm39) |
C286S |
probably benign |
Het |
Pabpc4 |
T |
A |
4: 123,186,701 (GRCm39) |
D307E |
possibly damaging |
Het |
Pik3cg |
G |
A |
12: 32,245,713 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
Serpina3k |
A |
G |
12: 104,307,253 (GRCm39) |
T162A |
probably benign |
Het |
Sis |
T |
C |
3: 72,841,431 (GRCm39) |
T795A |
probably damaging |
Het |
Slc2a1 |
T |
G |
4: 118,991,645 (GRCm39) |
M351R |
probably damaging |
Het |
Slc41a3 |
G |
A |
6: 90,621,142 (GRCm39) |
C394Y |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
Ulk2 |
G |
A |
11: 61,710,135 (GRCm39) |
H358Y |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,608,405 (GRCm39) |
I1544N |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,608,321 (GRCm39) |
M1572T |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACATTCTATCAAACACTGGGAAGCC -3'
(R):5'- TGCACCTTAGATGCAGAAGGAATCAAAT -3'
Sequencing Primer
(F):5'- ACACTGGGAAGCCTTACTATTTC -3'
(R):5'- agaagggtcagaatgaatgaaaag -3'
|
Posted On |
2013-11-18 |