Incidental Mutation 'R9068:Skint4'
| ID |
689357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| MMRRC Submission |
068892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112022932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 476
(P476S)
|
| 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: P468S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: P468S
| 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: P468S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: P468S
| 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: P468S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: P468S
| 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: P476S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: P476S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,828 (GRCm39) |
I770V |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,762 (GRCm39) |
N190K |
unknown |
Het |
| Actr10 |
T |
C |
12: 70,989,073 (GRCm39) |
L64S |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,343 (GRCm39) |
T589A |
probably benign |
Het |
| Akr1b7 |
T |
C |
6: 34,395,977 (GRCm39) |
S160P |
probably damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,217,850 (GRCm39) |
H277Y |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,482,062 (GRCm39) |
L112Q |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,750 (GRCm39) |
|
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,152,375 (GRCm39) |
D127G |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,551,962 (GRCm39) |
L324P |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,147,469 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
C |
T |
19: 44,124,274 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,379 (GRCm39) |
T470I |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,917,092 (GRCm39) |
V110A |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,975,729 (GRCm39) |
I2866M |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,360,667 (GRCm39) |
Y286C |
probably damaging |
Het |
| Efna2 |
C |
T |
10: 80,024,524 (GRCm39) |
P177L |
probably damaging |
Het |
| Fbxo46 |
A |
G |
7: 18,869,325 (GRCm39) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,108,048 (GRCm39) |
T542S |
probably benign |
Het |
| Gm136 |
T |
G |
4: 34,750,928 (GRCm39) |
D115A |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,221,687 (GRCm39) |
K114I |
possibly damaging |
Het |
| Gpr180 |
G |
T |
14: 118,385,658 (GRCm39) |
E157* |
probably null |
Het |
| Grk4 |
T |
C |
5: 34,905,653 (GRCm39) |
I466T |
|
Het |
| Hic1 |
A |
G |
11: 75,060,332 (GRCm39) |
M5T |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,303,685 (GRCm39) |
N3058K |
probably benign |
Het |
| Htr5a |
T |
A |
5: 28,055,799 (GRCm39) |
H263Q |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,340,557 (GRCm39) |
H252Q |
probably benign |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,612,289 (GRCm39) |
M233K |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,235,223 (GRCm39) |
D336V |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,285,218 (GRCm39) |
N55I |
possibly damaging |
Het |
| Or10d5 |
A |
T |
9: 39,862,087 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
A |
T |
2: 88,927,369 (GRCm39) |
C301S |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,703 (GRCm39) |
F258L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,963 (GRCm39) |
C178S |
probably damaging |
Het |
| Pcdha8 |
G |
T |
18: 37,127,323 (GRCm39) |
G602C |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigr |
G |
A |
1: 130,774,231 (GRCm39) |
V404M |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,612,036 (GRCm39) |
P803L |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,396 (GRCm39) |
F583L |
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,468 (GRCm39) |
D172E |
possibly damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,320,171 (GRCm39) |
V353A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,574,917 (GRCm39) |
D1077G |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,612,252 (GRCm39) |
F478L |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,825 (GRCm39) |
C263* |
probably null |
Het |
| Tfpi |
C |
A |
2: 84,273,235 (GRCm39) |
L229F |
unknown |
Het |
| Tmem131l |
A |
T |
3: 83,817,775 (GRCm39) |
C1242S |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,204,219 (GRCm39) |
W280R |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,573 (GRCm39) |
K213E |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,232,875 (GRCm39) |
L887P |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,404 (GRCm39) |
I151F |
probably damaging |
Het |
| Vmn2r50 |
G |
T |
7: 9,772,061 (GRCm39) |
Q547K |
possibly damaging |
Het |
| Vwf |
A |
G |
6: 125,625,792 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,000,451 (GRCm39) |
V2973D |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,358,289 (GRCm39) |
M655V |
probably benign |
Het |
| Zc3h3 |
C |
T |
15: 75,711,499 (GRCm39) |
A321T |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,376 (GRCm39) |
E343G |
probably damaging |
Het |
| Zfp775 |
C |
A |
6: 48,597,151 (GRCm39) |
R342S |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,075,942 (GRCm39) |
F27L |
probably benign |
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 |
|
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 |
|
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'- TCCTAGATCTAACCACCTGGAGA -3'
(R):5'- CATGTACGCACACCCATTGTT -3'
Sequencing Primer
(F):5'- TAGTGGCCACTCAATGACTG -3'
(R):5'- TGTACGCACACCCATTGTTAAGAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation