Incidental Mutation 'R0315:Skint7'
ID |
25399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint7
|
Ensembl Gene |
ENSMUSG00000049214 |
Gene Name |
selection and upkeep of intraepithelial T cells 7 |
Synonyms |
C130057D23Rik |
MMRRC Submission |
038525-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R0315 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111830120-111845420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 111845315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 376
(A376T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106568]
[ENSMUST00000163281]
|
AlphaFold |
A7XV04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106568
|
SMART Domains |
Protein: ENSMUSP00000102178 Gene: ENSMUSG00000049214
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
34 |
141 |
7.82e-6 |
SMART |
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122587
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142162
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163281
AA Change: A376T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127347 Gene: ENSMUSG00000049214 AA Change: A376T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
34 |
141 |
7.82e-6 |
SMART |
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
transmembrane domain
|
327 |
349 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,826,378 (GRCm39) |
R409Q |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
Dpys |
T |
G |
15: 39,720,734 (GRCm39) |
I9L |
probably benign |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
Gpbp1 |
T |
G |
13: 111,573,072 (GRCm39) |
E360A |
possibly damaging |
Het |
Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,196,053 (GRCm39) |
Y563* |
probably null |
Het |
Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
Prc1 |
T |
C |
7: 79,963,284 (GRCm39) |
S587P |
probably damaging |
Het |
Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
Soat1 |
T |
A |
1: 156,268,083 (GRCm39) |
K275* |
probably null |
Het |
Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
probably damaging |
Het |
|
Other mutations in Skint7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01473:Skint7
|
APN |
4 |
111,839,402 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01697:Skint7
|
APN |
4 |
111,837,654 (GRCm39) |
splice site |
probably benign |
|
IGL01961:Skint7
|
APN |
4 |
111,834,660 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02232:Skint7
|
APN |
4 |
111,839,225 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02675:Skint7
|
APN |
4 |
111,839,178 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02729:Skint7
|
APN |
4 |
111,839,367 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02887:Skint7
|
APN |
4 |
111,839,375 (GRCm39) |
missense |
possibly damaging |
0.70 |
Fraction
|
UTSW |
4 |
111,837,375 (GRCm39) |
missense |
probably damaging |
0.99 |
ratio
|
UTSW |
4 |
111,842,073 (GRCm39) |
splice site |
probably null |
|
R0401:Skint7
|
UTSW |
4 |
111,837,559 (GRCm39) |
missense |
probably damaging |
0.96 |
R0545:Skint7
|
UTSW |
4 |
111,837,395 (GRCm39) |
missense |
probably benign |
0.08 |
R0607:Skint7
|
UTSW |
4 |
111,834,656 (GRCm39) |
nonsense |
probably null |
|
R0685:Skint7
|
UTSW |
4 |
111,837,542 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1130:Skint7
|
UTSW |
4 |
111,841,355 (GRCm39) |
missense |
probably benign |
0.23 |
R1340:Skint7
|
UTSW |
4 |
111,837,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:Skint7
|
UTSW |
4 |
111,837,521 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1764:Skint7
|
UTSW |
4 |
111,839,270 (GRCm39) |
missense |
probably benign |
0.00 |
R1804:Skint7
|
UTSW |
4 |
111,839,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Skint7
|
UTSW |
4 |
111,842,047 (GRCm39) |
missense |
probably benign |
0.13 |
R2084:Skint7
|
UTSW |
4 |
111,837,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R4651:Skint7
|
UTSW |
4 |
111,839,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Skint7
|
UTSW |
4 |
111,839,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:Skint7
|
UTSW |
4 |
111,841,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Skint7
|
UTSW |
4 |
111,837,627 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5096:Skint7
|
UTSW |
4 |
111,839,152 (GRCm39) |
missense |
probably damaging |
0.98 |
R5311:Skint7
|
UTSW |
4 |
111,837,501 (GRCm39) |
missense |
probably damaging |
0.99 |
R5524:Skint7
|
UTSW |
4 |
111,837,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5777:Skint7
|
UTSW |
4 |
111,845,289 (GRCm39) |
missense |
probably benign |
0.29 |
R6208:Skint7
|
UTSW |
4 |
111,842,073 (GRCm39) |
splice site |
probably null |
|
R6369:Skint7
|
UTSW |
4 |
111,837,490 (GRCm39) |
missense |
probably benign |
0.16 |
R6752:Skint7
|
UTSW |
4 |
111,837,463 (GRCm39) |
missense |
probably benign |
0.21 |
R7396:Skint7
|
UTSW |
4 |
111,845,324 (GRCm39) |
missense |
probably benign |
|
R7633:Skint7
|
UTSW |
4 |
111,841,337 (GRCm39) |
missense |
probably benign |
0.27 |
R7840:Skint7
|
UTSW |
4 |
111,839,423 (GRCm39) |
missense |
probably benign |
|
R8054:Skint7
|
UTSW |
4 |
111,839,426 (GRCm39) |
missense |
probably benign |
|
R8253:Skint7
|
UTSW |
4 |
111,834,675 (GRCm39) |
nonsense |
probably null |
|
R8840:Skint7
|
UTSW |
4 |
111,845,183 (GRCm39) |
missense |
probably benign |
|
R8946:Skint7
|
UTSW |
4 |
111,839,198 (GRCm39) |
missense |
possibly damaging |
0.52 |
Z1176:Skint7
|
UTSW |
4 |
111,837,326 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Skint7
|
UTSW |
4 |
111,837,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2013-04-16 |