Incidental Mutation 'IGL00975:Atxn10'
ID |
29102 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atxn10
|
Ensembl Gene |
ENSMUSG00000016541 |
Gene Name |
ataxin 10 |
Synonyms |
Sca10, TEG-169, Tex169, E46 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00975
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
85220446-85347413 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 85220666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163242]
|
AlphaFold |
P28658 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000163242
AA Change: M1L
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000132450 Gene: ENSMUSG00000016541 AA Change: M1L
Domain | Start | End | E-Value | Type |
Pfam:Atx10homo_assoc
|
370 |
467 |
4.7e-38 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016] PHENOTYPE: Homozygous null mice die at early postimplantation stages. [provided by MGI curators]
|
Allele List at MGI |
All alleles(20) : Gene trapped(20) |
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
Ppp1r26 |
T |
A |
2: 28,343,730 (GRCm39) |
L1120Q |
probably damaging |
Het |
Pudp |
T |
G |
18: 50,701,349 (GRCm39) |
K128T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,225,174 (GRCm39) |
T94A |
possibly damaging |
Het |
Six5 |
T |
C |
7: 18,831,603 (GRCm39) |
L698P |
probably damaging |
Het |
Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
Slc30a9 |
T |
C |
5: 67,507,169 (GRCm39) |
V487A |
probably damaging |
Het |
Tbx21 |
T |
C |
11: 96,990,908 (GRCm39) |
I257V |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
Other mutations in Atxn10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Atxn10
|
APN |
15 |
85,259,623 (GRCm39) |
splice site |
probably null |
|
IGL01380:Atxn10
|
APN |
15 |
85,260,896 (GRCm39) |
nonsense |
probably null |
|
IGL01408:Atxn10
|
APN |
15 |
85,260,896 (GRCm39) |
nonsense |
probably null |
|
3-1:Atxn10
|
UTSW |
15 |
85,322,295 (GRCm39) |
splice site |
probably benign |
|
R0190:Atxn10
|
UTSW |
15 |
85,220,730 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0319:Atxn10
|
UTSW |
15 |
85,249,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Atxn10
|
UTSW |
15 |
85,243,675 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1746:Atxn10
|
UTSW |
15 |
85,260,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R2050:Atxn10
|
UTSW |
15 |
85,249,513 (GRCm39) |
missense |
probably benign |
0.37 |
R3055:Atxn10
|
UTSW |
15 |
85,271,206 (GRCm39) |
missense |
probably benign |
0.03 |
R4559:Atxn10
|
UTSW |
15 |
85,322,321 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4786:Atxn10
|
UTSW |
15 |
85,271,344 (GRCm39) |
missense |
probably benign |
0.03 |
R4799:Atxn10
|
UTSW |
15 |
85,260,909 (GRCm39) |
splice site |
probably null |
|
R4831:Atxn10
|
UTSW |
15 |
85,271,260 (GRCm39) |
missense |
probably benign |
0.01 |
R5323:Atxn10
|
UTSW |
15 |
85,275,944 (GRCm39) |
missense |
probably benign |
0.00 |
R5335:Atxn10
|
UTSW |
15 |
85,220,785 (GRCm39) |
splice site |
probably null |
|
R5355:Atxn10
|
UTSW |
15 |
85,346,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R5768:Atxn10
|
UTSW |
15 |
85,277,621 (GRCm39) |
missense |
probably benign |
0.01 |
R6260:Atxn10
|
UTSW |
15 |
85,346,612 (GRCm39) |
missense |
probably benign |
0.38 |
R6277:Atxn10
|
UTSW |
15 |
85,275,893 (GRCm39) |
missense |
probably benign |
0.05 |
R6370:Atxn10
|
UTSW |
15 |
85,277,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R6645:Atxn10
|
UTSW |
15 |
85,260,904 (GRCm39) |
critical splice donor site |
probably null |
|
R6957:Atxn10
|
UTSW |
15 |
85,220,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R7859:Atxn10
|
UTSW |
15 |
85,346,526 (GRCm39) |
missense |
probably benign |
0.01 |
R8031:Atxn10
|
UTSW |
15 |
85,277,594 (GRCm39) |
missense |
probably benign |
|
R9062:Atxn10
|
UTSW |
15 |
85,275,918 (GRCm39) |
missense |
probably benign |
|
R9171:Atxn10
|
UTSW |
15 |
85,277,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Atxn10
|
UTSW |
15 |
85,243,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R9429:Atxn10
|
UTSW |
15 |
85,346,565 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2013-04-17 |