Incidental Mutation 'IGL01380:Atxn10'
ID278322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn10
Ensembl Gene ENSMUSG00000016541
Gene Nameataxin 10
SynonymsTEG-169, Sca10, E46, Tex169
Accession Numbers

Genbank: NM_016843: MGI: 1859293

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01380
Quality Score
Status
Chromosome15
Chromosomal Location85336245-85463212 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 85376695 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 214 (E214*)
Ref Sequence ENSEMBL: ENSMUSP00000132450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163242]
Predicted Effect probably null
Transcript: ENSMUST00000163242
AA Change: E214*
SMART Domains Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: E214*

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,022 V352L possibly damaging Het
Ankrd44 A T 1: 54,727,565 M488K probably benign Het
Ano8 A G 8: 71,480,809 probably benign Het
Atp2a1 T A 7: 126,448,770 M623L possibly damaging Het
Btla A C 16: 45,250,353 D225A probably benign Het
C030048H21Rik G A 2: 26,256,647 Q1218* probably null Het
C130079G13Rik A G 3: 59,932,632 T42A probably benign Het
Cacna1a A G 8: 84,559,117 Y750C probably damaging Het
Ccdc15 A T 9: 37,276,557 probably benign Het
Ccdc18 T A 5: 108,180,887 I724N probably damaging Het
Cluh T A 11: 74,665,946 F937L probably benign Het
Clybl G T 14: 122,379,349 A259S probably benign Het
Cyp4f39 T G 17: 32,481,858 I167S probably damaging Het
Dchs1 T A 7: 105,762,211 D1566V probably damaging Het
Dnah3 C T 7: 119,926,564 A3867T probably damaging Het
Dtwd1 T A 2: 126,159,927 L189Q probably benign Het
Dusp10 T C 1: 184,069,014 I326T possibly damaging Het
Eaf1 T A 14: 31,497,810 probably benign Het
Eif3c C T 7: 126,564,413 probably benign Het
Fam169a C T 13: 97,091,951 T44M probably damaging Het
Fam184a T C 10: 53,694,686 probably benign Het
Fam25c C T 14: 34,353,698 A46T probably null Het
Gckr A G 5: 31,299,633 probably benign Het
Gfra2 G T 14: 70,967,146 probably benign Het
Gm8237 A T 14: 5,863,703 probably null Het
H2-Eb2 G T 17: 34,335,809 L228F probably benign Het
Igf2r T C 17: 12,695,374 N1736S probably benign Het
Izumo1 T G 7: 45,627,095 S361A probably benign Het
Klri1 T C 6: 129,698,798 I170V probably benign Het
L3mbtl2 C T 15: 81,671,125 A193V possibly damaging Het
Lats1 T A 10: 7,691,780 M105K possibly damaging Het
Lrpprc T C 17: 84,722,730 D1080G probably benign Het
Lrrc74a A T 12: 86,761,722 M425L possibly damaging Het
Mfsd13a G T 19: 46,367,908 D151Y probably damaging Het
Mst1 G A 9: 108,084,588 E640K probably damaging Het
Napsa T C 7: 44,586,674 V379A probably damaging Het
Olfr1 A T 11: 73,395,191 M277K probably damaging Het
Olfr371 A T 8: 85,231,329 Y278F possibly damaging Het
Olfr371 C A 8: 85,231,146 S217Y probably damaging Het
Olfr544 C T 7: 102,484,385 C245Y probably damaging Het
Otop3 T C 11: 115,346,411 V567A probably damaging Het
Oxsr1 A T 9: 119,260,101 probably benign Het
Pak2 A T 16: 32,041,544 V167E probably benign Het
Pcdhb16 A G 18: 37,479,445 H486R probably benign Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rbm6 T C 9: 107,788,349 D616G probably damaging Het
Sf3b1 T C 1: 54,987,949 Y1249C probably damaging Het
Sipa1l3 T C 7: 29,331,372 H534R possibly damaging Het
Slco1c1 T C 6: 141,540,051 Y136H probably damaging Het
Smarca4 A G 9: 21,679,073 M1333V probably benign Het
Smc4 A G 3: 69,025,828 D54G probably damaging Het
Spag5 T A 11: 78,304,617 V250E possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Suv39h2 T A 2: 3,464,259 probably benign Het
Taar8b T A 10: 24,092,107 H63L probably damaging Het
Tex2 G A 11: 106,544,315 Q264* probably null Het
Thnsl2 A C 6: 71,138,756 S156A probably benign Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Usp25 T C 16: 77,093,678 L758P probably benign Het
Zfyve1 G A 12: 83,552,507 R144C probably damaging Het
Zpld1 A G 16: 55,251,770 V42A probably damaging Het
Other mutations in Atxn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Atxn10 APN 15 85336465 start codon destroyed probably benign 0.33
IGL01020:Atxn10 APN 15 85375422 splice site probably null
IGL01408:Atxn10 APN 15 85376695 nonsense probably null
3-1:Atxn10 UTSW 15 85438094 splice site probably benign
R0190:Atxn10 UTSW 15 85336529 missense possibly damaging 0.84
R0319:Atxn10 UTSW 15 85365282 missense probably damaging 1.00
R1437:Atxn10 UTSW 15 85359474 missense possibly damaging 0.47
R1746:Atxn10 UTSW 15 85376663 missense probably damaging 1.00
R2050:Atxn10 UTSW 15 85365312 missense probably benign 0.37
R3055:Atxn10 UTSW 15 85387005 missense probably benign 0.03
R4559:Atxn10 UTSW 15 85438120 missense possibly damaging 0.81
R4786:Atxn10 UTSW 15 85387143 missense probably benign 0.03
R4799:Atxn10 UTSW 15 85376708 splice site probably null
R4831:Atxn10 UTSW 15 85387059 missense probably benign 0.01
R5323:Atxn10 UTSW 15 85391743 missense probably benign 0.00
R5335:Atxn10 UTSW 15 85336584 splice site probably null
R5355:Atxn10 UTSW 15 85462314 missense probably damaging 1.00
R5768:Atxn10 UTSW 15 85393420 missense probably benign 0.01
R6260:Atxn10 UTSW 15 85462411 missense probably benign 0.38
R6277:Atxn10 UTSW 15 85391692 missense probably benign 0.05
R6370:Atxn10 UTSW 15 85393385 missense probably damaging 1.00
R6645:Atxn10 UTSW 15 85376703 critical splice donor site probably null
R6957:Atxn10 UTSW 15 85336498 missense probably damaging 1.00
R7859:Atxn10 UTSW 15 85462325 missense probably benign 0.01
R7942:Atxn10 UTSW 15 85462325 missense probably benign 0.01
R8031:Atxn10 UTSW 15 85393393 missense probably benign
Posted On2015-04-16