Incidental Mutation 'IGL02020:Skint1'
| ID |
183925 |
| 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: 0.066)
|
| Stock # |
IGL02020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111863466-111886735 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111882724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 256
(M256K)
|
| 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 |
probably benign
Transcript: ENSMUST00000161389
AA Change: M256K
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: M256K
| 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 |
probably benign
Transcript: ENSMUST00000162158
AA Change: M256K
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: M256K
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
T |
8: 84,659,577 (GRCm39) |
Q711L |
probably benign |
Het |
| Atg9b |
A |
C |
5: 24,596,056 (GRCm39) |
N205K |
possibly damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,865 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 110,066,078 (GRCm39) |
Y784C |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,453,672 (GRCm39) |
D142E |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,517,269 (GRCm39) |
L880P |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,882 (GRCm39) |
T319A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,793,877 (GRCm39) |
T46A |
probably benign |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,345 (GRCm39) |
C41R |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,948,216 (GRCm39) |
V539I |
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,947,495 (GRCm39) |
I830F |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,397,013 (GRCm39) |
N1110S |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,805,579 (GRCm39) |
|
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,266,900 (GRCm39) |
|
probably null |
Het |
| Phpt1 |
T |
C |
2: 25,464,221 (GRCm39) |
I87M |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,426,822 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,315,769 (GRCm39) |
E2163G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,176 (GRCm39) |
I1059V |
probably benign |
Het |
| Runx2 |
C |
T |
17: 44,969,486 (GRCm39) |
G253D |
probably damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,121 (GRCm39) |
|
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,967 (GRCm39) |
A364V |
probably damaging |
Het |
| Srsf3-ps |
C |
A |
11: 98,516,335 (GRCm39) |
V13L |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,850,572 (GRCm39) |
R879Q |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,687,780 (GRCm39) |
T588A |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,200 (GRCm39) |
V43E |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,336 (GRCm39) |
S421P |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wwp2 |
G |
A |
8: 108,283,127 (GRCm39) |
R354Q |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,118 (GRCm39) |
Q1315L |
probably damaging |
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 |
|
IGL02045:Skint1
|
APN |
4 |
111,882,727 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
Incidental Mutation