Incidental Mutation 'IGL02045:Skint1'
ID |
184898 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Skint1
|
Ensembl Gene |
ENSMUSG00000089773 |
Gene Name |
selection and upkeep of intraepithelial T cells 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL02045
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
111863466-111886735 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111882727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 257
(V257E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117379]
[ENSMUST00000161389]
[ENSMUST00000162158]
|
AlphaFold |
A7TZE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117379
|
SMART Domains |
Protein: ENSMUSP00000124545 Gene: ENSMUSG00000089773
Domain | Start | End | E-Value | Type |
IGv
|
44 |
125 |
1.88e-8 |
SMART |
Pfam:C2-set_2
|
142 |
228 |
2.5e-6 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161389
AA Change: V257E
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125313 Gene: ENSMUSG00000089773 AA Change: V257E
Domain | Start | End | E-Value | Type |
IGv
|
44 |
125 |
1.88e-8 |
SMART |
Pfam:C2-set_2
|
142 |
228 |
3.1e-6 |
PFAM |
transmembrane domain
|
248 |
267 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162158
AA Change: V257E
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124737 Gene: ENSMUSG00000089773 AA Change: V257E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
IGv
|
44 |
125 |
1.88e-8 |
SMART |
transmembrane domain
|
247 |
269 |
N/A |
INTRINSIC |
transmembrane domain
|
282 |
304 |
N/A |
INTRINSIC |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a point mutation allele exhibit impaired T cell differentiation with reduced Vgamma5+Vdelta1+ T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
A |
5: 114,378,721 (GRCm39) |
H2044Q |
possibly damaging |
Het |
Ankrd12 |
A |
T |
17: 66,293,244 (GRCm39) |
S730T |
probably benign |
Het |
Ano9 |
A |
T |
7: 140,682,382 (GRCm39) |
N655K |
probably benign |
Het |
Ap1ar |
A |
T |
3: 127,609,298 (GRCm39) |
Y108N |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,954,752 (GRCm39) |
I55V |
probably benign |
Het |
Barx2 |
T |
C |
9: 31,770,094 (GRCm39) |
T145A |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,158,442 (GRCm39) |
|
probably null |
Het |
Ces2e |
C |
T |
8: 105,657,290 (GRCm39) |
|
probably benign |
Het |
Cflar |
T |
C |
1: 58,791,903 (GRCm39) |
I405T |
probably benign |
Het |
Cibar2 |
T |
A |
8: 120,896,461 (GRCm39) |
K174* |
probably null |
Het |
Cyp51 |
A |
G |
5: 4,133,247 (GRCm39) |
S464P |
probably damaging |
Het |
Ermard |
G |
A |
17: 15,271,826 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,841 (GRCm39) |
T49A |
probably benign |
Het |
Gls |
A |
G |
1: 52,258,674 (GRCm39) |
V198A |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,115,855 (GRCm39) |
I867N |
probably damaging |
Het |
Ighv1-14 |
A |
T |
12: 114,610,334 (GRCm39) |
|
noncoding transcript |
Het |
Iqsec1 |
T |
C |
6: 90,641,051 (GRCm39) |
K1022E |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,726,574 (GRCm39) |
T299A |
probably benign |
Het |
Nr2e3 |
A |
T |
9: 59,856,291 (GRCm39) |
M82K |
probably benign |
Het |
Ntpcr |
A |
G |
8: 126,472,191 (GRCm39) |
|
probably benign |
Het |
Or1e26 |
A |
G |
11: 73,480,058 (GRCm39) |
C169R |
probably damaging |
Het |
Or4d10b |
T |
C |
19: 12,036,253 (GRCm39) |
T288A |
possibly damaging |
Het |
Or52s6 |
A |
G |
7: 103,092,159 (GRCm39) |
L57P |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,739 (GRCm39) |
D180G |
probably damaging |
Het |
Or6c70 |
A |
T |
10: 129,710,091 (GRCm39) |
D178E |
probably benign |
Het |
Prkcb |
A |
G |
7: 122,189,390 (GRCm39) |
D506G |
probably damaging |
Het |
Rasgef1a |
A |
G |
6: 118,066,404 (GRCm39) |
I470V |
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,452,978 (GRCm39) |
E514G |
possibly damaging |
Het |
Rgs22 |
G |
A |
15: 36,013,300 (GRCm39) |
A1048V |
probably benign |
Het |
Secisbp2l |
A |
G |
2: 125,617,498 (GRCm39) |
F60L |
possibly damaging |
Het |
Six4 |
T |
C |
12: 73,155,429 (GRCm39) |
S505G |
probably benign |
Het |
Smad9 |
A |
G |
3: 54,693,593 (GRCm39) |
N174S |
possibly damaging |
Het |
Smc2 |
A |
G |
4: 52,462,914 (GRCm39) |
N635D |
probably benign |
Het |
Stradb |
T |
A |
1: 59,028,937 (GRCm39) |
I135N |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,497,762 (GRCm39) |
T407A |
probably damaging |
Het |
Tmc8 |
T |
A |
11: 117,677,346 (GRCm39) |
I322N |
probably damaging |
Het |
Tnip1 |
A |
C |
11: 54,802,365 (GRCm39) |
*648G |
probably null |
Het |
Ttc3 |
T |
C |
16: 94,210,540 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Skint1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00330:Skint1
|
APN |
4 |
111,878,777 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01890:Skint1
|
APN |
4 |
111,867,878 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02020:Skint1
|
APN |
4 |
111,882,724 (GRCm39) |
missense |
probably benign |
0.08 |
R0421:Skint1
|
UTSW |
4 |
111,876,211 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0544:Skint1
|
UTSW |
4 |
111,878,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Skint1
|
UTSW |
4 |
111,886,596 (GRCm39) |
splice site |
probably benign |
|
R0881:Skint1
|
UTSW |
4 |
111,886,054 (GRCm39) |
missense |
probably benign |
0.04 |
R0973:Skint1
|
UTSW |
4 |
111,885,412 (GRCm39) |
splice site |
probably benign |
|
R1036:Skint1
|
UTSW |
4 |
111,876,493 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1469:Skint1
|
UTSW |
4 |
111,882,708 (GRCm39) |
missense |
probably benign |
0.00 |
R1469:Skint1
|
UTSW |
4 |
111,882,708 (GRCm39) |
missense |
probably benign |
0.00 |
R2029:Skint1
|
UTSW |
4 |
111,878,653 (GRCm39) |
splice site |
probably null |
|
R2063:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2064:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2065:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2066:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2067:Skint1
|
UTSW |
4 |
111,882,730 (GRCm39) |
missense |
probably benign |
0.00 |
R2372:Skint1
|
UTSW |
4 |
111,876,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Skint1
|
UTSW |
4 |
111,882,678 (GRCm39) |
missense |
probably benign |
0.25 |
R2971:Skint1
|
UTSW |
4 |
111,878,527 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4656:Skint1
|
UTSW |
4 |
111,878,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R4993:Skint1
|
UTSW |
4 |
111,885,530 (GRCm39) |
critical splice donor site |
probably null |
|
R5083:Skint1
|
UTSW |
4 |
111,886,630 (GRCm39) |
missense |
probably benign |
0.01 |
R5450:Skint1
|
UTSW |
4 |
111,882,729 (GRCm39) |
missense |
probably benign |
0.00 |
R5583:Skint1
|
UTSW |
4 |
111,876,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R5645:Skint1
|
UTSW |
4 |
111,882,699 (GRCm39) |
missense |
probably benign |
0.41 |
R5877:Skint1
|
UTSW |
4 |
111,878,720 (GRCm39) |
nonsense |
probably null |
|
R5950:Skint1
|
UTSW |
4 |
111,876,532 (GRCm39) |
missense |
probably benign |
|
R5974:Skint1
|
UTSW |
4 |
111,876,516 (GRCm39) |
missense |
probably benign |
0.02 |
R6216:Skint1
|
UTSW |
4 |
111,878,679 (GRCm39) |
missense |
probably benign |
0.00 |
R6494:Skint1
|
UTSW |
4 |
111,867,909 (GRCm39) |
missense |
probably benign |
0.06 |
R7348:Skint1
|
UTSW |
4 |
111,878,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R7752:Skint1
|
UTSW |
4 |
111,876,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Skint1
|
UTSW |
4 |
111,876,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R8515:Skint1
|
UTSW |
4 |
111,867,921 (GRCm39) |
missense |
probably benign |
0.10 |
R9417:Skint1
|
UTSW |
4 |
111,878,509 (GRCm39) |
missense |
probably benign |
0.33 |
|
Posted On |
2014-05-07 |