Incidental Mutation 'IGL01890:Skint1'
| ID |
179224 |
| 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 # |
IGL01890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111863466-111886735 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111867878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 2
(G2R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117379]
[ENSMUST00000161389]
[ENSMUST00000162158]
[ENSMUST00000162885]
|
| AlphaFold |
A7TZE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117379
AA Change: G2R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773
AA Change: G2R
| 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 |
noncoding transcript
Transcript: ENSMUST00000143802
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161389
AA Change: G2R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: G2R
| 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 damaging
Transcript: ENSMUST00000162158
AA Change: G2R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: G2R
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162885
AA Change: G2R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
AA Change: G2R
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
44 |
125 |
1.88e-8 |
SMART |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
T |
12: 80,231,642 (GRCm39) |
V265E |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,480,389 (GRCm39) |
I865V |
probably benign |
Het |
| Car5a |
G |
A |
8: 122,650,349 (GRCm39) |
A182V |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,096,277 (GRCm39) |
V249A |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,722 (GRCm39) |
V34A |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,676,149 (GRCm39) |
|
probably benign |
Het |
| Entpd6 |
G |
A |
2: 150,612,612 (GRCm39) |
D445N |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,771,320 (GRCm39) |
I225M |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,685,996 (GRCm39) |
V424A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,519,328 (GRCm39) |
M176V |
probably benign |
Het |
| Igkv12-38 |
C |
T |
6: 69,920,389 (GRCm39) |
C43Y |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,852 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
| Slc4a9 |
G |
A |
18: 36,662,760 (GRCm39) |
A172T |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,146 (GRCm39) |
S727P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,862,237 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
G |
T |
19: 22,689,083 (GRCm39) |
R4L |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,880 (GRCm39) |
V879E |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,776 (GRCm39) |
Y131F |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,737 (GRCm39) |
N491K |
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 |
|
|
IGL02020:Skint1
|
APN |
4 |
111,882,724 (GRCm39) |
missense |
probably benign |
0.08 |
|
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