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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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