Incidental Mutation 'IGL02328:Skint4'
| ID |
288567 |
| 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 # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111929213-112025273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111977255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 215
(I215N)
|
| 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: I215N
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: I215N
| 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: I215N
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: I215N
| 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: I215N
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: I215N
| 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: I223N
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: I223N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
| Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation