Incidental Mutation 'R4050:Skint4'
| ID |
314097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| MMRRC Submission |
040968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4050 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111981811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 260
(S260L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
| AlphaFold |
A7TZF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069769
AA Change: S252L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: S252L
| 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 |
probably benign
Transcript: ENSMUST00000106564
AA Change: S252L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: S252L
| 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 |
probably benign
Transcript: ENSMUST00000106565
AA Change: S252L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: S252L
| 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 |
probably benign
Transcript: ENSMUST00000106566
AA Change: S260L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: S260L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,029,449 (GRCm39) |
D473G |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,044,144 (GRCm39) |
Q1826L |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,065,390 (GRCm39) |
V4087I |
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,150,363 (GRCm39) |
A1354T |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,976,404 (GRCm39) |
V424A |
probably benign |
Het |
| Cdc20b |
G |
A |
13: 113,200,819 (GRCm39) |
D180N |
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,605,171 (GRCm39) |
D1053G |
probably benign |
Het |
| Ddx39a |
T |
A |
8: 84,448,863 (GRCm39) |
M246K |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,114,441 (GRCm39) |
T1013M |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,445,769 (GRCm39) |
T265N |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,410 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Gbp8 |
T |
A |
5: 105,179,104 (GRCm39) |
I132F |
probably damaging |
Het |
| Gga1 |
A |
G |
15: 78,775,691 (GRCm39) |
D382G |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,378 (GRCm39) |
|
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,342 (GRCm39) |
L188Q |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,646,599 (GRCm39) |
S95G |
probably damaging |
Het |
| Hnf1a |
T |
A |
5: 115,108,633 (GRCm39) |
N91Y |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,280,003 (GRCm39) |
S710F |
probably damaging |
Het |
| Kazn |
C |
T |
4: 141,834,215 (GRCm39) |
E614K |
unknown |
Het |
| Kif26a |
T |
A |
12: 112,146,350 (GRCm39) |
M1812K |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,139,713 (GRCm39) |
K488* |
probably null |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Met |
A |
G |
6: 17,533,983 (GRCm39) |
T645A |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,185,903 (GRCm39) |
|
probably null |
Het |
| Mycl |
A |
T |
4: 122,890,632 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
G |
A |
4: 46,147,483 (GRCm39) |
R110H |
probably damaging |
Het |
| Nfasc |
G |
T |
1: 132,538,043 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
A |
G |
2: 80,486,320 (GRCm39) |
I212V |
probably benign |
Het |
| Or2y8 |
T |
G |
11: 52,035,961 (GRCm39) |
Y132S |
probably damaging |
Het |
| Or4p20 |
A |
G |
2: 88,253,967 (GRCm39) |
M134T |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,420,311 (GRCm39) |
S181N |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,400 (GRCm39) |
T617I |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,913,182 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Pramel24 |
T |
C |
4: 143,453,692 (GRCm39) |
S267P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,169,542 (GRCm39) |
K220R |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,004,840 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,014,697 (GRCm39) |
A1005V |
probably benign |
Het |
| Samd15 |
T |
G |
12: 87,247,406 (GRCm39) |
N30K |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,911,294 (GRCm39) |
K905* |
probably null |
Het |
| Scrib |
G |
A |
15: 75,923,322 (GRCm39) |
R1245W |
possibly damaging |
Het |
| Slc29a2 |
A |
T |
19: 5,079,481 (GRCm39) |
M339L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,164 (GRCm39) |
R75G |
possibly damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,907,927 (GRCm39) |
D463G |
possibly damaging |
Het |
| Taf4 |
C |
A |
2: 179,573,805 (GRCm39) |
G688C |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,623,507 (GRCm39) |
S2148P |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,856,000 (GRCm39) |
V600E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,651,510 (GRCm39) |
V10953A |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,178,691 (GRCm39) |
Y333C |
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,181,415 (GRCm39) |
S311P |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,327,000 (GRCm39) |
M1R |
probably null |
Het |
| Zfp26 |
G |
A |
9: 20,353,525 (GRCm39) |
P88L |
probably benign |
Het |
| Zfp324 |
T |
C |
7: 12,704,794 (GRCm39) |
F328L |
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 |
|
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 |
|
R6752:Skint4
|
UTSW |
4 |
111,977,060 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- GACTTAATATTTCAGGATGGTAGGC -3'
(R):5'- TCTGAATCTTTACCAGCAAAAGCAG -3'
Sequencing Primer
(F):5'- CAGGATGGTAGGCTCTTACCAATTG -3'
(R):5'- TCTTTACCAGCAAAAGCAGAGAATG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation