Incidental Mutation 'IGL03039:Skint4'
| ID |
408835 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skint4
|
| Ensembl Gene |
ENSMUSG00000055960 |
| Gene Name |
selection and upkeep of intraepithelial T cells 4 |
| Synonyms |
9530098N22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL03039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111981847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 272
(V272A)
|
| 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: V264A
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: V264A
| 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: V264A
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: V264A
| 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: V264A
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: V264A
| 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: V272A
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: V272A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,454,502 (GRCm39) |
C440R |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,566 (GRCm39) |
D308G |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,063,999 (GRCm39) |
Q408K |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,798,340 (GRCm39) |
L114P |
probably damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,839 (GRCm39) |
C66Y |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,445,667 (GRCm39) |
Q743K |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,468,055 (GRCm39) |
E241G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,068,867 (GRCm39) |
K148E |
probably damaging |
Het |
| Gm17079 |
T |
A |
14: 51,930,518 (GRCm39) |
E109V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,769 (GRCm39) |
|
probably benign |
Het |
| Igkv1-88 |
T |
C |
6: 68,839,276 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,042 (GRCm39) |
R21G |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,467 (GRCm39) |
D22G |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,435 (GRCm39) |
D769G |
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,019,734 (GRCm39) |
W817L |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,988,637 (GRCm39) |
V983A |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,184 (GRCm38) |
M276K |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,574,837 (GRCm39) |
V46D |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,140,461 (GRCm39) |
Y712H |
probably damaging |
Het |
| Phkg2 |
T |
A |
7: 127,178,866 (GRCm39) |
Y27* |
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,157,140 (GRCm39) |
L726F |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,129,229 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
A |
G |
10: 83,119,722 (GRCm39) |
Y347H |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
probably benign |
Het |
| Tgfbr3 |
A |
C |
5: 107,325,665 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,088 (GRCm39) |
I4N |
possibly damaging |
Het |
| Trh |
C |
A |
6: 92,220,709 (GRCm39) |
R51L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,013 (GRCm39) |
V312E |
probably damaging |
Het |
| Wdfy2 |
T |
C |
14: 63,186,169 (GRCm39) |
V268A |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation