Incidental Mutation 'IGL03060:Skint4'
| ID |
409411 |
| 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 # |
IGL03060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111975432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 131
(V131I)
|
| 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: V123I
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: V123I
| 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: V123I
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: V123I
| 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: V123I
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: V123I
| 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: V131I
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: V131I
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
G |
A |
19: 56,902,682 (GRCm39) |
Q720* |
probably null |
Het |
| Amph |
A |
G |
13: 19,278,984 (GRCm39) |
E153G |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,985,842 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,450 (GRCm39) |
D683G |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,461,907 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
| Dhrs2 |
C |
A |
14: 55,474,775 (GRCm39) |
Q137K |
probably benign |
Het |
| Fam124a |
A |
G |
14: 62,843,353 (GRCm39) |
Y287C |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gm9637 |
G |
A |
14: 19,402,173 (GRCm38) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,871,015 (GRCm39) |
|
probably null |
Het |
| Iars1 |
G |
A |
13: 49,843,923 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
T |
16: 16,680,291 (GRCm39) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,432,196 (GRCm39) |
Y361H |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,765 (GRCm39) |
H105Q |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,305,084 (GRCm39) |
M111T |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,929,523 (GRCm39) |
R27W |
probably damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,522 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,671 (GRCm39) |
D1768V |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,168,159 (GRCm39) |
Q441L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,327,045 (GRCm39) |
Y84N |
probably damaging |
Het |
| Ntmt2 |
T |
C |
1: 163,544,692 (GRCm39) |
D97G |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,289 (GRCm39) |
F288S |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,196 (GRCm39) |
L137P |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,972,834 (GRCm39) |
V248A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,002,149 (GRCm39) |
C1868S |
probably damaging |
Het |
| Sec23a |
A |
T |
12: 59,032,891 (GRCm39) |
C403S |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,837 (GRCm39) |
V270A |
possibly damaging |
Het |
| Tmed9 |
A |
G |
13: 55,743,321 (GRCm39) |
D151G |
possibly damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,007,071 (GRCm39) |
|
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,148 (GRCm39) |
R512G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,676,169 (GRCm39) |
Y1999C |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,640,523 (GRCm39) |
C2320S |
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 |
|
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