Incidental Mutation 'R6752:Skint4'
ID |
530824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint4
|
Ensembl Gene |
ENSMUSG00000055960 |
Gene Name |
selection and upkeep of intraepithelial T cells 4 |
Synonyms |
9530098N22Rik |
MMRRC Submission |
044869-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6752 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111977060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 158
(M158T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
AlphaFold |
A7TZF3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069769
AA Change: M150T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070676 Gene: ENSMUSG00000055960 AA Change: M150T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
33 |
140 |
7.24e-10 |
SMART |
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106564
AA Change: M150T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102174 Gene: ENSMUSG00000055960 AA Change: M150T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
33 |
140 |
7.24e-10 |
SMART |
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106565
AA Change: M150T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102175 Gene: ENSMUSG00000055960 AA Change: M150T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
IG
|
33 |
140 |
7.24e-10 |
SMART |
Pfam:C2-set_2
|
141 |
227 |
6.2e-8 |
PFAM |
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106566
AA Change: M158T
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102176 Gene: ENSMUSG00000055960 AA Change: M158T
Domain | Start | End | E-Value | Type |
IG
|
41 |
148 |
7.24e-10 |
SMART |
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
transmembrane domain
|
304 |
326 |
N/A |
INTRINSIC |
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119233
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,086,309 (GRCm39) |
L45S |
probably benign |
Het |
Agbl2 |
G |
A |
2: 90,633,418 (GRCm39) |
C518Y |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Aox1 |
T |
C |
1: 58,086,398 (GRCm39) |
I101T |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,343,074 (GRCm39) |
F241S |
probably damaging |
Het |
Asmt |
A |
G |
X: 169,110,096 (GRCm39) |
M202V |
probably benign |
Het |
Atp6v0a2 |
A |
G |
5: 124,779,452 (GRCm39) |
E189G |
probably damaging |
Het |
Birc2 |
G |
A |
9: 7,857,345 (GRCm39) |
A376V |
probably benign |
Het |
Ccbe1 |
C |
T |
18: 66,209,378 (GRCm39) |
|
probably null |
Het |
Chst2 |
C |
A |
9: 95,286,802 (GRCm39) |
E515* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,540,706 (GRCm39) |
N2426K |
possibly damaging |
Het |
Dmrt2 |
A |
G |
19: 25,655,706 (GRCm39) |
N435S |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,421,017 (GRCm39) |
K123E |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,870,616 (GRCm39) |
L1452Q |
probably damaging |
Het |
Galnt7 |
G |
A |
8: 58,105,985 (GRCm39) |
R10C |
probably damaging |
Het |
Gm16506 |
A |
G |
14: 43,964,876 (GRCm39) |
I22T |
unknown |
Het |
H2-Q6 |
A |
G |
17: 35,647,103 (GRCm39) |
T292A |
probably damaging |
Het |
Ifne |
A |
G |
4: 88,798,319 (GRCm39) |
M33T |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,933,831 (GRCm39) |
R808W |
probably damaging |
Het |
Igfbp5 |
T |
C |
1: 72,903,068 (GRCm39) |
E169G |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,749 (GRCm39) |
R198* |
probably null |
Het |
Irgm1 |
T |
C |
11: 48,757,290 (GRCm39) |
T174A |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,645,446 (GRCm39) |
G21S |
possibly damaging |
Het |
Klra4 |
G |
T |
6: 130,038,991 (GRCm39) |
Q134K |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,503,936 (GRCm39) |
Y309* |
probably null |
Het |
Mrps10 |
A |
G |
17: 47,688,740 (GRCm39) |
N162S |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,217,358 (GRCm39) |
F90S |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,003,290 (GRCm39) |
D1783G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,119,856 (GRCm39) |
E972G |
probably damaging |
Het |
Myt1 |
G |
T |
2: 181,442,875 (GRCm39) |
V455F |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,944,640 (GRCm39) |
S575T |
probably benign |
Het |
Nbea |
T |
A |
3: 55,875,730 (GRCm39) |
T1647S |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,570,037 (GRCm39) |
N466S |
probably benign |
Het |
Or10ag52 |
A |
G |
2: 87,043,388 (GRCm39) |
M51V |
probably benign |
Het |
Or5b114-ps1 |
T |
A |
19: 13,352,890 (GRCm39) |
L188H |
unknown |
Het |
Or5h27 |
T |
A |
16: 59,006,694 (GRCm39) |
N51Y |
probably damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,853,704 (GRCm39) |
I33N |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,165,939 (GRCm39) |
F70C |
probably damaging |
Het |
Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
Rab11fip2 |
T |
C |
19: 59,895,475 (GRCm39) |
D471G |
probably damaging |
Het |
Rnh1 |
A |
G |
7: 140,743,354 (GRCm39) |
V207A |
probably benign |
Het |
Sh3tc2 |
C |
A |
18: 62,094,108 (GRCm39) |
T49N |
probably benign |
Het |
Skint7 |
T |
A |
4: 111,837,463 (GRCm39) |
H80Q |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,762,539 (GRCm39) |
|
probably benign |
Het |
Sostdc1 |
T |
C |
12: 36,364,411 (GRCm39) |
V40A |
probably benign |
Het |
Sptlc1 |
C |
A |
13: 53,489,394 (GRCm39) |
K437N |
possibly damaging |
Het |
Stat2 |
T |
C |
10: 128,119,622 (GRCm39) |
F503L |
probably damaging |
Het |
Syt16 |
A |
T |
12: 74,275,987 (GRCm39) |
|
probably null |
Het |
Tspyl1 |
T |
C |
10: 34,158,583 (GRCm39) |
S103P |
probably benign |
Het |
Ube4a |
A |
T |
9: 44,837,246 (GRCm39) |
S1053R |
probably damaging |
Het |
Vipr1 |
A |
G |
9: 121,482,959 (GRCm39) |
N58S |
probably damaging |
Het |
Zfp184 |
C |
A |
13: 22,143,578 (GRCm39) |
A428E |
probably damaging |
Het |
Zfp292 |
A |
C |
4: 34,808,593 (GRCm39) |
F1484V |
possibly damaging |
Het |
Zfp599 |
G |
A |
9: 22,160,840 (GRCm39) |
H442Y |
probably damaging |
Het |
Zfp944 |
G |
A |
17: 22,558,500 (GRCm39) |
T249I |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,316 (GRCm39) |
H405L |
probably damaging |
Het |
|
Other mutations in Skint4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:Skint4
|
APN |
4 |
111,977,207 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01654:Skint4
|
APN |
4 |
111,977,254 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02040:Skint4
|
APN |
4 |
112,003,679 (GRCm39) |
splice site |
probably benign |
|
IGL02328:Skint4
|
APN |
4 |
111,977,255 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02811:Skint4
|
APN |
4 |
111,944,200 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02965:Skint4
|
APN |
4 |
111,993,218 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03039:Skint4
|
APN |
4 |
111,981,847 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03060:Skint4
|
APN |
4 |
111,975,432 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03075:Skint4
|
APN |
4 |
111,944,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Skint4
|
APN |
4 |
112,022,883 (GRCm39) |
missense |
possibly damaging |
0.96 |
PIT4378001:Skint4
|
UTSW |
4 |
111,944,232 (GRCm39) |
missense |
probably benign |
0.01 |
R0483:Skint4
|
UTSW |
4 |
111,975,136 (GRCm39) |
splice site |
probably benign |
|
R1175:Skint4
|
UTSW |
4 |
111,981,793 (GRCm39) |
missense |
probably benign |
0.14 |
R1446:Skint4
|
UTSW |
4 |
111,975,311 (GRCm39) |
missense |
probably benign |
0.11 |
R1641:Skint4
|
UTSW |
4 |
111,993,240 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1983:Skint4
|
UTSW |
4 |
112,003,689 (GRCm39) |
missense |
probably benign |
0.00 |
R2168:Skint4
|
UTSW |
4 |
111,944,183 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2272:Skint4
|
UTSW |
4 |
111,977,065 (GRCm39) |
missense |
probably benign |
0.01 |
R2287:Skint4
|
UTSW |
4 |
111,975,402 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3801:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R3802:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R3804:Skint4
|
UTSW |
4 |
111,975,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R4009:Skint4
|
UTSW |
4 |
111,977,306 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4050:Skint4
|
UTSW |
4 |
111,981,811 (GRCm39) |
missense |
probably benign |
0.01 |
R4564:Skint4
|
UTSW |
4 |
111,977,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R4581:Skint4
|
UTSW |
4 |
111,944,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R4587:Skint4
|
UTSW |
4 |
111,944,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R4674:Skint4
|
UTSW |
4 |
111,975,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Skint4
|
UTSW |
4 |
111,975,433 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4753:Skint4
|
UTSW |
4 |
112,003,728 (GRCm39) |
missense |
probably benign |
0.00 |
R4775:Skint4
|
UTSW |
4 |
111,993,261 (GRCm39) |
missense |
probably damaging |
0.97 |
R4832:Skint4
|
UTSW |
4 |
112,000,963 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5299:Skint4
|
UTSW |
4 |
111,993,203 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6118:Skint4
|
UTSW |
4 |
111,977,019 (GRCm39) |
splice site |
probably null |
|
R6433:Skint4
|
UTSW |
4 |
112,003,707 (GRCm39) |
missense |
probably benign |
0.00 |
R6616:Skint4
|
UTSW |
4 |
111,975,427 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6698:Skint4
|
UTSW |
4 |
111,977,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Skint4
|
UTSW |
4 |
112,015,281 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7102:Skint4
|
UTSW |
4 |
111,975,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R7602:Skint4
|
UTSW |
4 |
111,975,468 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8027:Skint4
|
UTSW |
4 |
112,015,182 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8038:Skint4
|
UTSW |
4 |
111,977,003 (GRCm39) |
intron |
probably benign |
|
R8147:Skint4
|
UTSW |
4 |
111,993,218 (GRCm39) |
missense |
probably benign |
0.06 |
R8375:Skint4
|
UTSW |
4 |
111,975,173 (GRCm39) |
missense |
probably damaging |
0.98 |
R8682:Skint4
|
UTSW |
4 |
111,993,237 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8695:Skint4
|
UTSW |
4 |
111,975,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Skint4
|
UTSW |
4 |
112,022,932 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9361:Skint4
|
UTSW |
4 |
112,001,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R9516:Skint4
|
UTSW |
4 |
112,015,236 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- CACGAACTTCTTAGGCAATGTG -3'
(R):5'- GGTGAGTTACAAGGTTTTGAAAGTAGC -3'
Sequencing Primer
(F):5'- CAATGTGCATCCTATGTGTTTTGAC -3'
(R):5'- CAAATGACATTCCTGTGAGAGCTG -3'
|
Posted On |
2018-08-01 |