Incidental Mutation 'R7859:Atxn10'
ID 607386
Institutional Source Beutler Lab
Gene Symbol Atxn10
Ensembl Gene ENSMUSG00000016541
Gene Name ataxin 10
Synonyms Sca10, TEG-169, Tex169, E46
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 85220446-85347413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85346526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 428 (D428G)
Ref Sequence ENSEMBL: ENSMUSP00000132450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163242]
AlphaFold P28658
Predicted Effect probably benign
Transcript: ENSMUST00000163242
AA Change: D428G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: D428G

DomainStartEndE-ValueType
Pfam:Atx10homo_assoc 370 467 4.7e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Atxn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Atxn10 APN 15 85,220,666 (GRCm39) start codon destroyed probably benign 0.33
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
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
Predicted Primers PCR Primer
(F):5'- AAATGGGTTTCTCATTGAGTGC -3'
(R):5'- TCCAAGTCACAGAGATGCAGG -3'

Sequencing Primer
(F):5'- CTCATTGAGTGCATATGTATTCTCC -3'
(R):5'- GCAGCTTTCTGGGAGGGAC -3'
Posted On 2019-12-20