Incidental Mutation 'R3717:Skint10'
| ID |
259953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint10
|
| Ensembl Gene |
ENSMUSG00000048766 |
| Gene Name |
selection and upkeep of intraepithelial T cells 10 |
| Synonyms |
A030001H23Rik |
| MMRRC Submission |
040709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R3717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
112568344-112632063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112603936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 84
(W84R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060327]
|
| AlphaFold |
A7TZG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060327
AA Change: W84R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058838
Gene: ENSMUSG00000048766
AA Change: W84R
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
| Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
| Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
| Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| St8sia6 |
T |
C |
2: 13,661,745 (GRCm39) |
N362S |
possibly damaging |
Het |
| Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
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 |
|
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'- ACCTGGTAGGACAACGCTTC -3'
(R):5'- GACTATCCACATTCCCAATGGG -3'
Sequencing Primer
(F):5'- CTCCCGATTAGTTGTTACATTG -3'
(R):5'- GACCACTGGGAATGACAACTTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation