Incidental Mutation 'R6616:Skint4'
| ID |
524042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| MMRRC Submission |
044739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111975427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 121
(H121R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069769]
[ENSMUST00000106564]
[ENSMUST00000106565]
[ENSMUST00000106566]
|
| AlphaFold |
A7TZF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069769
AA Change: H121R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: H121R
| 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: H121R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: H121R
| 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: H121R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: H121R
| 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: H129R
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: H129R
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
| Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
| Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
| Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,743,850 (GRCm39) |
M252K |
probably benign |
Het |
| Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,105,725 (GRCm39) |
D457V |
probably damaging |
Het |
| Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
| Grin1 |
T |
A |
2: 25,182,122 (GRCm39) |
I870F |
possibly damaging |
Het |
| Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
| Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
| Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
| Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
| Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
| Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
| Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
| Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
| Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,994,579 (GRCm39) |
E680K |
possibly damaging |
Het |
| Sbsn |
T |
A |
7: 30,452,704 (GRCm39) |
V573D |
possibly damaging |
Het |
| Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
| Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
| Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
| Unc45b |
G |
A |
11: 82,802,645 (GRCm39) |
R47Q |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
possibly 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 |
|
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'- AACTCAATTGTCAATTGTCCCCACC -3'
(R):5'- ATGTTCTGCCTGCTAGTAAAATGAG -3'
Sequencing Primer
(F):5'- CAACACATGGAGATTCGCTGGTTTC -3'
(R):5'- GCCTGCTAGTAAAATGAGAGTTAAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation