Incidental Mutation 'IGL03214:Atxn3'
ID413434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn3
Ensembl Gene ENSMUSG00000021189
Gene Nameataxin 3
SynonymsSca3, ataxin-3, Atx3, MJD1, 2210008M02Rik, Mjd
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03214
Quality Score
Status
Chromosome12
Chromosomal Location101918901-101958246 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 101945922 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021606] [ENSMUST00000159883] [ENSMUST00000160251] [ENSMUST00000161011]
Predicted Effect probably benign
Transcript: ENSMUST00000021606
SMART Domains Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189

DomainStartEndE-ValueType
Josephin 8 168 1.6e-91 SMART
UIM 224 243 2.23e-1 SMART
UIM 244 263 1.51e-3 SMART
low complexity region 276 286 N/A INTRINSIC
low complexity region 315 326 N/A INTRINSIC
UIM 329 348 7.34e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159883
SMART Domains Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189

DomainStartEndE-ValueType
Josephin 5 164 1.1e-89 SMART
UIM 220 239 2.23e-1 SMART
UIM 240 259 1.51e-3 SMART
low complexity region 272 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160251
SMART Domains Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189

DomainStartEndE-ValueType
Josephin 8 168 1.6e-91 SMART
UIM 224 243 2.23e-1 SMART
UIM 244 263 8.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161011
SMART Domains Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189

DomainStartEndE-ValueType
Josephin 8 168 1.6e-91 SMART
UIM 224 243 2.23e-1 SMART
UIM 244 263 1.51e-3 SMART
low complexity region 276 286 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,167,054 probably benign Het
Asb5 T C 8: 54,585,063 V207A probably benign Het
Brwd1 T C 16: 96,037,900 D857G probably benign Het
Cacna1i A G 15: 80,355,716 N322S probably benign Het
Dcun1d1 A T 3: 35,919,071 W92R probably damaging Het
Dnah7a A C 1: 53,522,209 probably null Het
Enpep T C 3: 129,293,247 D581G probably benign Het
Fam135a G A 1: 24,053,276 L201F probably damaging Het
Gm14496 T G 2: 182,000,536 L667V probably damaging Het
Grk4 T A 5: 34,752,209 M539K probably benign Het
Itpr2 A G 6: 146,180,244 V2261A probably benign Het
Krtap5-2 A G 7: 142,175,014 S310P unknown Het
Mme A T 3: 63,329,690 Y232F possibly damaging Het
Mtmr4 T C 11: 87,597,693 Y58H probably damaging Het
Myh13 T C 11: 67,353,585 S983P possibly damaging Het
Nbas A G 12: 13,331,110 probably benign Het
Neb T A 2: 52,197,844 T5448S possibly damaging Het
Neb C T 2: 52,159,548 G6428R probably damaging Het
Olfr1156 T A 2: 87,950,071 Q54L probably benign Het
Olfr31 A T 14: 14,328,284 M58L probably damaging Het
Olfr472 T C 7: 107,902,966 M83T probably benign Het
Olfr598 G T 7: 103,328,666 S60I possibly damaging Het
Olfr699 T A 7: 106,790,345 I219L probably benign Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Phex A T X: 157,177,504 N681K probably damaging Het
Plekha8 C A 6: 54,635,770 A454E probably damaging Het
Rbfa C A 18: 80,197,291 K152N probably benign Het
Satb2 C A 1: 56,845,580 S513I probably damaging Het
Slc4a2 G T 5: 24,434,881 R520L probably benign Het
Slfn14 T C 11: 83,279,000 H606R probably benign Het
Smc1b G A 15: 85,097,946 Q716* probably null Het
Syncrip C T 9: 88,464,643 probably benign Het
Vmn2r30 T A 7: 7,334,260 I126F probably benign Het
Vps13c C T 9: 67,897,195 A762V probably null Het
Wdr64 C A 1: 175,743,635 probably benign Het
Wisp3 T C 10: 39,153,167 N255S probably benign Het
Other mutations in Atxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Atxn3 APN 12 101926508 missense possibly damaging 0.94
IGL01364:Atxn3 APN 12 101934423 splice site probably benign
IGL01393:Atxn3 APN 12 101933047 nonsense probably null
IGL01994:Atxn3 APN 12 101942180 missense probably benign
R1081:Atxn3 UTSW 12 101934349 missense probably damaging 0.98
R1255:Atxn3 UTSW 12 101934334 missense probably damaging 1.00
R1288:Atxn3 UTSW 12 101942178 synonymous probably null
R1435:Atxn3 UTSW 12 101942201 missense probably benign 0.18
R1466:Atxn3 UTSW 12 101926499 missense possibly damaging 0.73
R1466:Atxn3 UTSW 12 101926499 missense possibly damaging 0.73
R2032:Atxn3 UTSW 12 101942194 nonsense probably null
R2345:Atxn3 UTSW 12 101948321 missense probably damaging 1.00
R2882:Atxn3 UTSW 12 101937411 missense probably damaging 1.00
R4593:Atxn3 UTSW 12 101923177 missense probably benign 0.01
R4628:Atxn3 UTSW 12 101923078 unclassified probably benign
R4849:Atxn3 UTSW 12 101934368 missense probably benign 0.02
R4876:Atxn3 UTSW 12 101948379 missense probably damaging 1.00
R4960:Atxn3 UTSW 12 101948379 missense possibly damaging 0.92
R5682:Atxn3 UTSW 12 101958147 missense probably damaging 1.00
R6010:Atxn3 UTSW 12 101948026 missense probably damaging 1.00
R6520:Atxn3 UTSW 12 101934401 missense probably damaging 1.00
R6629:Atxn3 UTSW 12 101937406 missense probably benign 0.11
R7460:Atxn3 UTSW 12 101926517 missense probably benign 0.15
R7546:Atxn3 UTSW 12 101948002 critical splice donor site probably null
X0061:Atxn3 UTSW 12 101958139 nonsense probably null
Posted On2016-08-02