Incidental Mutation 'IGL00330:Skint1'
| ID |
6606 |
| 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 # |
IGL00330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111863466-111886735 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 111878777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117379]
[ENSMUST00000161389]
[ENSMUST00000162158]
[ENSMUST00000162885]
|
| AlphaFold |
A7TZE6 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000161389
|
| SMART Domains |
Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
| 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 null
Transcript: ENSMUST00000162158
|
| SMART Domains |
Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
| 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 benign
Transcript: ENSMUST00000162885
|
| SMART Domains |
Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
G |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,442 (GRCm39) |
L308Q |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,803,279 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
C |
9: 107,992,539 (GRCm39) |
E1071G |
probably damaging |
Het |
| Car3 |
A |
T |
3: 14,933,439 (GRCm39) |
N128Y |
probably benign |
Het |
| Cdkl2 |
C |
T |
5: 92,165,236 (GRCm39) |
|
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,821,767 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
T |
G |
3: 62,438,094 (GRCm39) |
I688L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,670,411 (GRCm39) |
G107D |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,483,146 (GRCm39) |
R1242S |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,455,676 (GRCm39) |
Y162H |
probably benign |
Het |
| Msrb2 |
G |
T |
2: 19,376,510 (GRCm39) |
R6L |
unknown |
Het |
| Myh2 |
A |
G |
11: 67,084,266 (GRCm39) |
N1630D |
probably benign |
Het |
| Myrf |
A |
G |
19: 10,201,877 (GRCm39) |
V200A |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,119,807 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
A |
8: 32,308,117 (GRCm39) |
Q621L |
probably damaging |
Het |
| Or11h6 |
G |
A |
14: 50,880,625 (GRCm39) |
A296T |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,667 (GRCm39) |
I226F |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,669,586 (GRCm39) |
F211S |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,515,258 (GRCm39) |
N273S |
probably benign |
Het |
| Prss1l |
T |
C |
6: 41,371,707 (GRCm39) |
L51P |
probably damaging |
Het |
| Pwwp3b |
A |
G |
X: 138,136,443 (GRCm39) |
D327G |
probably damaging |
Het |
| Rnh1 |
G |
A |
7: 140,746,644 (GRCm39) |
A49V |
possibly damaging |
Het |
| Serhl |
C |
T |
15: 82,988,574 (GRCm39) |
S167F |
probably benign |
Het |
| Taar7b |
A |
C |
10: 23,876,740 (GRCm39) |
I302L |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,624,832 (GRCm39) |
F1706S |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,369,978 (GRCm39) |
P15S |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,307,122 (GRCm39) |
Q167R |
probably damaging |
Het |
| Zfp800 |
T |
A |
6: 28,243,037 (GRCm39) |
T643S |
probably benign |
Het |
|
| Other mutations in Skint1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation