Incidental Mutation 'R3718:Skint10'
| ID |
258788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint10
|
| Ensembl Gene |
ENSMUSG00000048766 |
| Gene Name |
selection and upkeep of intraepithelial T cells 10 |
| Synonyms |
A030001H23Rik |
| MMRRC Submission |
040710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R3718 (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: 97.1%
- 20x: 94.4%
|
| 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 |
|---|
| Abra |
T |
C |
15: 41,729,689 (GRCm39) |
D237G |
probably benign |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,408,627 (GRCm39) |
Y2505H |
probably benign |
Het |
| Aspm |
G |
A |
1: 139,418,165 (GRCm39) |
V2965I |
probably benign |
Het |
| Ccna2 |
A |
T |
3: 36,620,387 (GRCm39) |
V285E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
A |
G |
19: 4,973,093 (GRCm39) |
|
probably null |
Het |
| Gng11 |
G |
A |
6: 4,008,078 (GRCm39) |
R47H |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,534,948 (GRCm39) |
E381G |
probably benign |
Het |
| Il9 |
G |
A |
13: 56,627,264 (GRCm39) |
T116I |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,921,107 (GRCm39) |
T129A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
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 |
| Ntsr1 |
T |
C |
2: 180,184,499 (GRCm39) |
F401L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,997,162 (GRCm39) |
D1626E |
probably benign |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or4k35 |
A |
G |
2: 111,100,571 (GRCm39) |
V47A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,577,006 (GRCm39) |
|
probably null |
Het |
| Rad54l2 |
A |
G |
9: 106,570,726 (GRCm39) |
V1198A |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Slc40a1 |
G |
T |
1: 45,950,151 (GRCm39) |
H434N |
probably benign |
Het |
| Trdv2-1 |
T |
C |
14: 54,183,995 (GRCm39) |
Y76H |
probably benign |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
Het |
| Zc3hav1l |
G |
T |
6: 38,272,060 (GRCm39) |
S236R |
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 |
|
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'- GTGACTATCCACATTCCCAATGG -3'
Sequencing Primer
(F):5'- CTCCCGATTAGTTGTTACATTG -3'
(R):5'- GACCACTGGGAATGACAACTTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation