Incidental Mutation 'R4349:Skint10'
| ID |
328429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint10
|
| Ensembl Gene |
ENSMUSG00000048766 |
| Gene Name |
selection and upkeep of intraepithelial T cells 10 |
| Synonyms |
A030001H23Rik |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
112568344-112632063 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 112626968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 113
(*113W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060327]
[ENSMUST00000068851]
|
| AlphaFold |
A7TZG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060327
|
| SMART Domains |
Protein: ENSMUSP00000058838
Gene: ENSMUSG00000048766
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000068851
AA Change: *113W
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137128
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
probably damaging |
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 |
|
|
R2845:Skint10
|
UTSW |
4 |
112,573,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AGACTGGAATGGATTCTCTGTGTAG -3'
(R):5'- TGCTTTAGGTGCCAATGTAAAGC -3'
Sequencing Primer
(F):5'- TGTGTGAACTGAAATTCTCAAGG -3'
(R):5'- CTATCATCAGGCAGTGGGTTAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation