Incidental Mutation 'R2845:Skint10'
ID |
251502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skint10
|
Ensembl Gene |
ENSMUSG00000048766 |
Gene Name |
selection and upkeep of intraepithelial T cells 10 |
Synonyms |
A030001H23Rik |
MMRRC Submission |
040438-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R2845 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
112568344-112632063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112573023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 258
(S258G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060327]
|
AlphaFold |
A7TZG1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060327
AA Change: S258G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000058838 Gene: ENSMUSG00000048766 AA Change: S258G
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:4F8T|A
|
50 |
149 |
5e-8 |
PDB |
Blast:IG_like
|
56 |
143 |
3e-11 |
BLAST |
transmembrane domain
|
162 |
184 |
N/A |
INTRINSIC |
transmembrane domain
|
212 |
229 |
N/A |
INTRINSIC |
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
Other mutations in Skint10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02660:Skint10
|
APN |
4 |
112,622,227 (GRCm39) |
unclassified |
probably benign |
|
IGL02891:Skint10
|
APN |
4 |
112,586,023 (GRCm39) |
missense |
probably benign |
0.03 |
R0067:Skint10
|
UTSW |
4 |
112,568,753 (GRCm39) |
missense |
probably benign |
|
R0067:Skint10
|
UTSW |
4 |
112,568,753 (GRCm39) |
missense |
probably benign |
|
R0540:Skint10
|
UTSW |
4 |
112,630,224 (GRCm39) |
critical splice donor site |
probably null |
|
R0544:Skint10
|
UTSW |
4 |
112,586,008 (GRCm39) |
splice site |
probably benign |
|
R0711:Skint10
|
UTSW |
4 |
112,573,102 (GRCm39) |
splice site |
probably benign |
|
R1135:Skint10
|
UTSW |
4 |
112,568,660 (GRCm39) |
nonsense |
probably null |
|
R1341:Skint10
|
UTSW |
4 |
112,622,228 (GRCm39) |
unclassified |
probably benign |
|
R3717:Skint10
|
UTSW |
4 |
112,603,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R3718:Skint10
|
UTSW |
4 |
112,603,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Skint10
|
UTSW |
4 |
112,626,968 (GRCm39) |
makesense |
probably null |
|
R4857:Skint10
|
UTSW |
4 |
112,603,830 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4988:Skint10
|
UTSW |
4 |
112,586,069 (GRCm39) |
nonsense |
probably null |
|
R5010:Skint10
|
UTSW |
4 |
112,584,869 (GRCm39) |
missense |
probably benign |
0.14 |
R5354:Skint10
|
UTSW |
4 |
112,568,790 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5567:Skint10
|
UTSW |
4 |
112,573,067 (GRCm39) |
missense |
probably damaging |
0.98 |
R5716:Skint10
|
UTSW |
4 |
112,568,844 (GRCm39) |
missense |
probably damaging |
0.97 |
R5827:Skint10
|
UTSW |
4 |
112,603,972 (GRCm39) |
missense |
probably benign |
0.00 |
R6705:Skint10
|
UTSW |
4 |
112,630,301 (GRCm39) |
intron |
probably benign |
|
R7220:Skint10
|
UTSW |
4 |
112,586,170 (GRCm39) |
missense |
probably benign |
0.00 |
R7620:Skint10
|
UTSW |
4 |
112,573,014 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7724:Skint10
|
UTSW |
4 |
112,622,289 (GRCm39) |
nonsense |
probably null |
|
R7827:Skint10
|
UTSW |
4 |
112,632,003 (GRCm39) |
nonsense |
probably null |
|
R8007:Skint10
|
UTSW |
4 |
112,568,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8056:Skint10
|
UTSW |
4 |
112,573,010 (GRCm39) |
missense |
probably benign |
0.02 |
R8816:Skint10
|
UTSW |
4 |
112,603,892 (GRCm39) |
missense |
probably benign |
0.15 |
R9419:Skint10
|
UTSW |
4 |
112,572,981 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Skint10
|
UTSW |
4 |
112,603,862 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAATTATCCAAGCCTCTAGTTTC -3'
(R):5'- ACCTAGTTGACCTAAACTTTGCCC -3'
Sequencing Primer
(F):5'- CACCAAGCAAAGTTTTGACTGATAGG -3'
(R):5'- GTTGACCTAAACTTTGCCCCAAAATG -3'
|
Posted On |
2014-12-04 |