Incidental Mutation 'R9171:Atxn10'
ID 696437
Institutional Source Beutler Lab
Gene Symbol Atxn10
Ensembl Gene ENSMUSG00000016541
Gene Name ataxin 10
Synonyms Sca10, TEG-169, Tex169, E46
MMRRC Submission 068976-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9171 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 85220446-85347413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85277557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 341 (H341Q)
Ref Sequence ENSEMBL: ENSMUSP00000132450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163242]
AlphaFold P28658
Predicted Effect probably damaging
Transcript: ENSMUST00000163242
AA Change: H341Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: H341Q

DomainStartEndE-ValueType
Pfam:Atx10homo_assoc 370 467 4.7e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra T A 15: 41,732,512 (GRCm39) T185S possibly damaging Het
Acad10 T A 5: 121,767,981 (GRCm39) H823L probably benign Het
Acly A G 11: 100,407,657 (GRCm39) V231A probably benign Het
Adamts9 T C 6: 92,849,381 (GRCm39) N1026S probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ankrd65 A G 4: 155,875,800 (GRCm39) E7G probably benign Het
Ap1g2 T C 14: 55,336,581 (GRCm39) H771R probably benign Het
Atp9a A G 2: 168,485,780 (GRCm39) probably null Het
Cacng1 A G 11: 107,607,060 (GRCm39) L53P probably damaging Het
Cdh23 T C 10: 60,161,810 (GRCm39) N2014S probably benign Het
Cma1 T C 14: 56,181,189 (GRCm39) N72S probably benign Het
Col7a1 G A 9: 108,807,953 (GRCm39) G2551D unknown Het
Cyp20a1 T G 1: 60,415,343 (GRCm39) L323R probably damaging Het
Dnah11 A T 12: 117,894,918 (GRCm39) V3643E probably damaging Het
Dnmt3l A C 10: 77,895,518 (GRCm39) D352A probably benign Het
Dock2 A T 11: 34,589,670 (GRCm39) N462K probably benign Het
Drc1 A G 5: 30,513,794 (GRCm39) Q450R probably benign Het
Drgx C T 14: 32,330,339 (GRCm39) S152F probably damaging Het
Efcab3 A G 11: 104,800,708 (GRCm39) T2977A probably benign Het
Eid3 C T 10: 82,703,316 (GRCm39) T259M probably damaging Het
Eif2ak3 T G 6: 70,835,419 (GRCm39) D115E probably damaging Het
Ezh2 A C 6: 47,531,134 (GRCm39) D183E probably benign Het
Fam114a1 A C 5: 65,191,713 (GRCm39) probably null Het
Fcho2 G A 13: 98,891,607 (GRCm39) T385I probably benign Het
Gm6882 C A 7: 21,161,254 (GRCm39) E205* probably null Het
Hexim2 G A 11: 103,029,822 (GRCm39) W291* probably null Het
Hnrnpab A C 11: 51,492,710 (GRCm39) S265R unknown Het
Hsd17b1 A G 11: 100,969,832 (GRCm39) N115D probably damaging Het
Ighmbp2 T C 19: 3,315,641 (GRCm39) D593G possibly damaging Het
Inf2 C A 12: 112,567,965 (GRCm39) C172* probably null Het
Invs A T 4: 48,398,149 (GRCm39) N445I possibly damaging Het
Izumo2 A G 7: 44,369,184 (GRCm39) Q186R probably benign Het
Kcnj15 T C 16: 95,097,481 (GRCm39) F368L probably benign Het
Kctd20 A G 17: 29,185,866 (GRCm39) D403G probably damaging Het
Kmt2c A C 5: 25,486,309 (GRCm39) V4748G probably damaging Het
Lrrc37a A G 11: 103,393,140 (GRCm39) S762P probably benign Het
Man2c1 C T 9: 57,044,317 (GRCm39) Q324* probably null Het
Mgam A G 6: 40,745,146 (GRCm39) I1804M possibly damaging Het
Mmp28 A G 11: 83,335,661 (GRCm39) V279A probably benign Het
Mrpl22 T C 11: 58,070,185 (GRCm39) V164A possibly damaging Het
Obscn A T 11: 58,952,329 (GRCm39) H3913Q possibly damaging Het
Or6e1 T C 14: 54,520,329 (GRCm39) T8A probably benign Het
Or8g50 C T 9: 39,648,516 (GRCm39) T135I probably benign Het
Paqr6 A G 3: 88,273,066 (GRCm39) T46A probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Piezo2 T C 18: 63,178,550 (GRCm39) D1789G probably benign Het
Pou4f2 T C 8: 79,162,748 (GRCm39) T96A probably benign Het
Ppp1r12b A T 1: 134,801,725 (GRCm39) V497E probably benign Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Rsph4a C T 10: 33,785,438 (GRCm39) Q450* probably null Het
Sh3d19 C T 3: 85,990,918 (GRCm39) probably benign Het
Slc39a14 T C 14: 70,547,687 (GRCm39) T259A probably benign Het
Snap91 T C 9: 86,680,672 (GRCm39) T404A probably benign Het
Sptbn4 A T 7: 27,141,844 (GRCm39) C50S possibly damaging Het
Stx8 A C 11: 67,875,471 (GRCm39) N99H possibly damaging Het
Tgfbi A T 13: 56,773,526 (GRCm39) M175L probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Tle1 A T 4: 72,043,232 (GRCm39) C536S possibly damaging Het
Tprn A G 2: 25,152,799 (GRCm39) S34G probably benign Het
Vmn1r80 A T 7: 11,927,124 (GRCm39) D78V possibly damaging 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
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
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'- TGAGGATGAACTGATGCCGC -3'
(R):5'- CCCTTGCCCAGAGAGAAAATAGTC -3'

Sequencing Primer
(F):5'- CCAGGCAAGGGCTCTCC -3'
(R):5'- GCCCAGAGAGAAAATAGTCTAAATTC -3'
Posted On 2022-02-07