Incidental Mutation 'IGL00500:Skint11'
| ID |
6605 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skint11
|
| Ensembl Gene |
ENSMUSG00000057977 |
| Gene Name |
selection and upkeep of intraepithelial T cells 11 |
| Synonyms |
A630098G03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL00500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
114020581-114102225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114051906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 85
(C85S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079915]
[ENSMUST00000145797]
[ENSMUST00000151810]
[ENSMUST00000164297]
|
| AlphaFold |
A7XV14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079915
|
| SMART Domains |
Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145797
AA Change: C85S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118895
Gene: ENSMUSG00000057977
AA Change: C85S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2-set_2
|
29 |
113 |
6.4e-7 |
PFAM |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151810
AA Change: C59S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000119157
Gene: ENSMUSG00000057977
AA Change: C59S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2-set_2
|
3 |
87 |
6e-7 |
PFAM |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164297
AA Change: C85S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: C85S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4F8T|A
|
19 |
125 |
6e-9 |
PDB |
|
Blast:IG_like
|
40 |
119 |
1e-10 |
BLAST |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
| AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
| Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
| B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
| Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
| Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
| Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
| Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
| Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
| Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
| Other mutations in Skint11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Skint11
|
APN |
4 |
114,051,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Skint11
|
APN |
4 |
114,101,833 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02499:Skint11
|
APN |
4 |
114,051,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02622:Skint11
|
APN |
4 |
114,051,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Skint11
|
APN |
4 |
114,101,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0513:Skint11
|
UTSW |
4 |
114,051,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0928:Skint11
|
UTSW |
4 |
114,101,798 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1486:Skint11
|
UTSW |
4 |
114,052,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1508:Skint11
|
UTSW |
4 |
114,088,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1667:Skint11
|
UTSW |
4 |
114,051,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1807:Skint11
|
UTSW |
4 |
114,051,893 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2504:Skint11
|
UTSW |
4 |
114,086,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4165:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4166:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4231:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4233:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4234:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4236:Skint11
|
UTSW |
4 |
114,101,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4756:Skint11
|
UTSW |
4 |
114,051,874 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4947:Skint11
|
UTSW |
4 |
114,048,707 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5237:Skint11
|
UTSW |
4 |
114,102,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5538:Skint11
|
UTSW |
4 |
114,088,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5555:Skint11
|
UTSW |
4 |
114,051,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6004:Skint11
|
UTSW |
4 |
114,088,925 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6209:Skint11
|
UTSW |
4 |
114,101,907 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7121:Skint11
|
UTSW |
4 |
114,084,993 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7208:Skint11
|
UTSW |
4 |
114,088,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Skint11
|
UTSW |
4 |
114,101,919 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7763:Skint11
|
UTSW |
4 |
114,084,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7842:Skint11
|
UTSW |
4 |
114,101,968 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7846:Skint11
|
UTSW |
4 |
114,102,076 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8054:Skint11
|
UTSW |
4 |
114,101,806 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8710:Skint11
|
UTSW |
4 |
114,051,951 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8742:Skint11
|
UTSW |
4 |
114,051,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Skint11
|
UTSW |
4 |
114,088,878 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Skint11
|
UTSW |
4 |
114,051,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation