Incidental Mutation 'R1135:Skint10'
| ID |
94897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skint10
|
| Ensembl Gene |
ENSMUSG00000048766 |
| Gene Name |
selection and upkeep of intraepithelial T cells 10 |
| Synonyms |
A030001H23Rik |
| MMRRC Submission |
039208-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R1135 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
112568344-112632063 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 112568660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 352
(W352*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060327]
|
| AlphaFold |
A7TZG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060327
AA Change: W352*
|
| SMART Domains |
Protein: ENSMUSP00000058838
Gene: ENSMUSG00000048766
AA Change: W352*
| 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: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
G |
T |
4: 148,029,115 (GRCm39) |
V362L |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,359,299 (GRCm39) |
L166F |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,090,468 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,839,498 (GRCm39) |
I643N |
probably damaging |
Het |
| Fibin |
G |
A |
2: 110,192,567 (GRCm39) |
H192Y |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,972,384 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
G |
1: 128,221,861 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
G |
9: 37,434,008 (GRCm39) |
I83V |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,698,023 (GRCm39) |
M1622L |
probably benign |
Het |
| Nkx2-4 |
G |
T |
2: 146,926,328 (GRCm39) |
S178* |
probably null |
Het |
| Nox4 |
C |
T |
7: 86,972,997 (GRCm39) |
P335S |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,140 (GRCm39) |
R1085Q |
possibly damaging |
Het |
| Srsf4 |
T |
G |
4: 131,627,380 (GRCm39) |
|
probably benign |
Het |
| Sytl1 |
C |
T |
4: 132,984,281 (GRCm39) |
G274D |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,437,952 (GRCm39) |
I459N |
probably damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,372 (GRCm39) |
L204P |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,159 (GRCm39) |
T1145A |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,230,034 (GRCm39) |
P830L |
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 |
|
|
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 |
|
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'- tgagtcatttctccaacctcTTTCACTG -3'
(R):5'- TGCTGATTGTGGGTAACAAGTTGCTA -3'
Sequencing Primer
(F):5'- tgggagaagatagagagatgaaag -3'
(R):5'- GAGCATGGATCTTTCCAAACATGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation