Incidental Mutation 'IGL01411:Skint8'
| ID |
80021 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skint8
|
| Ensembl Gene |
ENSMUSG00000078599 |
| Gene Name |
selection and upkeep of intraepithelial T cells 8 |
| Synonyms |
OTTMUSG00000009475 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL01411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111776643-111807558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111794103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 164
(N164K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106572]
[ENSMUST00000165046]
|
| AlphaFold |
A7XV07 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106572
AA Change: N164K
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: N164K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.13e-5 |
SMART |
|
Blast:IG_like
|
148 |
231 |
9e-16 |
BLAST |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124862
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165046
AA Change: N164K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: N164K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
34 |
141 |
3.13e-5 |
SMART |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
transmembrane domain
|
285 |
307 |
N/A |
INTRINSIC |
|
transmembrane domain
|
327 |
352 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
A |
19: 31,888,629 (GRCm39) |
E36K |
possibly damaging |
Het |
| Alox8 |
A |
T |
11: 69,079,516 (GRCm39) |
S257R |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,912 (GRCm39) |
S1960P |
probably damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,298,192 (GRCm39) |
N291S |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,087 (GRCm39) |
D468E |
possibly damaging |
Het |
| B3gnt6 |
A |
C |
7: 97,843,730 (GRCm39) |
F77V |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,403 (GRCm39) |
M1L |
probably benign |
Het |
| Calm3 |
T |
C |
7: 16,651,409 (GRCm39) |
T63A |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 58,024,919 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,273,192 (GRCm39) |
E15G |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,296,141 (GRCm39) |
W365R |
probably damaging |
Het |
| Ckap5 |
G |
T |
2: 91,431,356 (GRCm39) |
R1525L |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,663,157 (GRCm39) |
K127* |
probably null |
Het |
| Dclre1b |
A |
G |
3: 103,710,639 (GRCm39) |
V298A |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,479,837 (GRCm39) |
V2961E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,483 (GRCm38) |
D126G |
probably benign |
Het |
| Gpc1 |
T |
C |
1: 92,784,736 (GRCm39) |
F303S |
probably damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,324,881 (GRCm39) |
V698D |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,277,560 (GRCm39) |
|
probably null |
Het |
| Klhl4 |
A |
T |
X: 113,432,091 (GRCm39) |
D168V |
probably damaging |
Het |
| Krt42 |
A |
G |
11: 100,154,167 (GRCm39) |
L405P |
possibly damaging |
Het |
| Lrp1 |
A |
T |
10: 127,417,634 (GRCm39) |
C85* |
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,312,611 (GRCm39) |
L2559P |
probably damaging |
Het |
| Maob |
T |
G |
X: 16,578,808 (GRCm39) |
R448S |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,232,227 (GRCm39) |
V1250A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,846,723 (GRCm39) |
V286M |
probably damaging |
Het |
| Mlip |
A |
G |
9: 77,146,699 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mocs3 |
T |
C |
2: 168,073,297 (GRCm39) |
V248A |
probably damaging |
Het |
| Nxf2 |
T |
A |
X: 133,852,861 (GRCm39) |
R367S |
probably benign |
Het |
| Or10j3b |
T |
G |
1: 173,043,695 (GRCm39) |
V159G |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,233,324 (GRCm39) |
W32R |
probably damaging |
Het |
| Parva |
T |
C |
7: 112,176,217 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,750,143 (GRCm39) |
|
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,386,359 (GRCm39) |
I603T |
probably damaging |
Het |
| Rad9a |
T |
C |
19: 4,251,336 (GRCm39) |
K33E |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,958 (GRCm39) |
D794G |
probably damaging |
Het |
| Septin5 |
G |
A |
16: 18,443,680 (GRCm39) |
R90C |
probably damaging |
Het |
| Slc30a3 |
T |
G |
5: 31,247,424 (GRCm39) |
I73L |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,815,872 (GRCm39) |
|
probably benign |
Het |
| Tnc |
C |
T |
4: 63,918,959 (GRCm39) |
V1155M |
probably damaging |
Het |
| Ttc13 |
T |
G |
8: 125,410,024 (GRCm39) |
Q525P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,550,479 (GRCm39) |
E31601G |
probably damaging |
Het |
| Unc5a |
A |
T |
13: 55,150,741 (GRCm39) |
D577V |
probably damaging |
Het |
| Usp18 |
G |
A |
6: 121,238,380 (GRCm39) |
V176M |
probably benign |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,320 (GRCm39) |
V22A |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,865 (GRCm39) |
I230F |
probably damaging |
Het |
| Vmn1r51 |
A |
G |
6: 90,106,386 (GRCm39) |
I101V |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,282 (GRCm39) |
M414L |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,308,429 (GRCm39) |
V603G |
probably benign |
Het |
| Wt1 |
A |
G |
2: 104,963,319 (GRCm39) |
Y16C |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,232,977 (GRCm39) |
T159I |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,344,427 (GRCm39) |
F2223L |
probably benign |
Het |
| Zan |
T |
A |
5: 137,387,155 (GRCm39) |
H4966L |
unknown |
Het |
|
| Other mutations in Skint8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Skint8
|
APN |
4 |
111,796,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02973:Skint8
|
APN |
4 |
111,796,790 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03154:Skint8
|
APN |
4 |
111,796,707 (GRCm39) |
splice site |
probably null |
|
|
FR4976:Skint8
|
UTSW |
4 |
111,796,099 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0309:Skint8
|
UTSW |
4 |
111,796,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0448:Skint8
|
UTSW |
4 |
111,794,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Skint8
|
UTSW |
4 |
111,796,020 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Skint8
|
UTSW |
4 |
111,794,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Skint8
|
UTSW |
4 |
111,784,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Skint8
|
UTSW |
4 |
111,785,710 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1588:Skint8
|
UTSW |
4 |
111,785,924 (GRCm39) |
nonsense |
probably null |
|
|
R1707:Skint8
|
UTSW |
4 |
111,796,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Skint8
|
UTSW |
4 |
111,794,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Skint8
|
UTSW |
4 |
111,807,278 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2147:Skint8
|
UTSW |
4 |
111,794,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2896:Skint8
|
UTSW |
4 |
111,807,333 (GRCm39) |
missense |
probably null |
|
|
R4945:Skint8
|
UTSW |
4 |
111,796,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5019:Skint8
|
UTSW |
4 |
111,785,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5281:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5284:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5289:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5309:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5310:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5588:Skint8
|
UTSW |
4 |
111,794,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5636:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5637:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5638:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5639:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5719:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5720:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Skint8
|
UTSW |
4 |
111,807,387 (GRCm39) |
missense |
probably benign |
|
|
R5850:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5855:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6036:Skint8
|
UTSW |
4 |
111,807,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6525:Skint8
|
UTSW |
4 |
111,785,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6554:Skint8
|
UTSW |
4 |
111,784,413 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6578:Skint8
|
UTSW |
4 |
111,794,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6841:Skint8
|
UTSW |
4 |
111,785,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Skint8
|
UTSW |
4 |
111,794,222 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7317:Skint8
|
UTSW |
4 |
111,796,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7336:Skint8
|
UTSW |
4 |
111,796,769 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7412:Skint8
|
UTSW |
4 |
111,785,758 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7480:Skint8
|
UTSW |
4 |
111,785,784 (GRCm39) |
nonsense |
probably null |
|
|
R8027:Skint8
|
UTSW |
4 |
111,785,936 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8204:Skint8
|
UTSW |
4 |
111,796,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8963:Skint8
|
UTSW |
4 |
111,794,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9084:Skint8
|
UTSW |
4 |
111,794,210 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9249:Skint8
|
UTSW |
4 |
111,794,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9283:Skint8
|
UTSW |
4 |
111,785,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Skint8
|
UTSW |
4 |
111,794,251 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2013-11-05 |
Incidental Mutation