Incidental Mutation 'R2971:Skint1'
ID |
265670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint1
|
Ensembl Gene |
ENSMUSG00000089773 |
Gene Name |
selection and upkeep of intraepithelial T cells 1 |
Synonyms |
|
MMRRC Submission |
040525-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R2971 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111863466-111886735 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 111878527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Histidine
at position 153
(P153H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124545
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117379]
[ENSMUST00000161389]
[ENSMUST00000162158]
[ENSMUST00000162885]
|
AlphaFold |
A7TZE6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117379
AA Change: P153H
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124545 Gene: ENSMUSG00000089773 AA Change: P153H
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: P153H
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000125313 Gene: ENSMUSG00000089773 AA Change: P153H
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: P153H
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000124737 Gene: ENSMUSG00000089773 AA Change: P153H
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTCCAGACTATGACTTTCTATCAG -3'
(R):5'- GACTTTCTGGAAGAAGCTTTCAC -3'
Sequencing Primer
(F):5'- GCAATTAGAGCCCTTACCTC -3'
(R):5'- CTGGAAGAAGCTTTCACTAATGAG -3'
|
Posted On |
2015-02-05 |