Incidental Mutation 'IGL00801:Atxn3'
ID 9160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn3
Ensembl Gene ENSMUSG00000021189
Gene Name ataxin 3
Synonyms ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00801
Quality Score
Status
Chromosome 12
Chromosomal Location 101885160-101924505 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101892767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000021606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021606]
AlphaFold Q9CVD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000021606
AA Change: S316P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: S316P

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: ENSMUST00000160186
SMART Domains Protein: ENSMUSP00000124178
Gene: ENSMUSG00000021189

DomainStartEndE-ValueType
UIM 2 21 2.23e-1 SMART
UIM 22 41 1.51e-3 SMART
low complexity region 54 64 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,928,160 (GRCm39) T524A possibly damaging Het
Abcb7 T C X: 103,339,584 (GRCm39) I562V possibly damaging Het
Anapc4 T A 5: 53,014,553 (GRCm39) V472D probably damaging Het
Arhgef37 A G 18: 61,632,905 (GRCm39) Y511H probably damaging Het
B3galt1 A T 2: 67,948,320 (GRCm39) T12S possibly damaging Het
Ccn1 T A 3: 145,354,365 (GRCm39) D182V probably damaging Het
Cdc14a G T 3: 116,088,493 (GRCm39) S394* probably null Het
Celsr3 T C 9: 108,719,775 (GRCm39) V2458A probably benign Het
Dapk1 C T 13: 60,909,062 (GRCm39) T1225I probably benign Het
Fyb1 A G 15: 6,674,305 (GRCm39) K647R possibly damaging Het
Gabra5 C A 7: 57,138,736 (GRCm39) W104L probably damaging Het
Gjb6 A T 14: 57,361,498 (GRCm39) N254K possibly damaging Het
Golga4 T A 9: 118,367,994 (GRCm39) L371Q probably damaging Het
Gucy2g C T 19: 55,221,535 (GRCm39) R322Q probably benign Het
Hnf1b C T 11: 83,746,750 (GRCm39) A122V probably damaging Het
Insrr C T 3: 87,721,115 (GRCm39) L1089F probably damaging Het
Knop1 A G 7: 118,451,867 (GRCm39) V284A probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Map1b C T 13: 99,566,605 (GRCm39) E2039K unknown Het
Myof A G 19: 37,974,521 (GRCm39) I206T probably damaging Het
Nf1 A T 11: 79,319,526 (GRCm39) probably benign Het
Nol8 A G 13: 49,815,704 (GRCm39) D586G probably benign Het
Nudt5 T C 2: 5,871,168 (GRCm39) F166S probably damaging Het
Ociad1 T A 5: 73,461,909 (GRCm39) Y87N probably damaging Het
Qtrt2 T C 16: 43,701,552 (GRCm39) K3E probably damaging Het
Rictor G A 15: 6,824,015 (GRCm39) V1627I probably damaging Het
Skint2 A T 4: 112,483,188 (GRCm39) M198L possibly damaging Het
Slitrk5 A G 14: 111,918,097 (GRCm39) M574V probably benign Het
Thbs1 A G 2: 117,953,454 (GRCm39) D957G probably damaging Het
Tmem198b A C 10: 128,639,014 (GRCm39) L43R probably damaging Het
Trpa1 A G 1: 14,961,557 (GRCm39) M627T probably damaging Het
Zdbf2 T C 1: 63,342,197 (GRCm39) F192S possibly damaging Het
Zfp961 T G 8: 72,719,732 (GRCm39) M54R probably damaging Het
Other mutations in Atxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Atxn3 APN 12 101,900,682 (GRCm39) splice site probably benign
IGL01393:Atxn3 APN 12 101,899,306 (GRCm39) nonsense probably null
IGL01994:Atxn3 APN 12 101,908,439 (GRCm39) missense probably benign
IGL03214:Atxn3 APN 12 101,912,181 (GRCm39) splice site probably benign
R1081:Atxn3 UTSW 12 101,900,608 (GRCm39) missense probably damaging 0.98
R1255:Atxn3 UTSW 12 101,900,593 (GRCm39) missense probably damaging 1.00
R1288:Atxn3 UTSW 12 101,908,437 (GRCm39) splice site probably null
R1435:Atxn3 UTSW 12 101,908,460 (GRCm39) missense probably benign 0.18
R1466:Atxn3 UTSW 12 101,892,758 (GRCm39) missense possibly damaging 0.73
R1466:Atxn3 UTSW 12 101,892,758 (GRCm39) missense possibly damaging 0.73
R2032:Atxn3 UTSW 12 101,908,453 (GRCm39) nonsense probably null
R2345:Atxn3 UTSW 12 101,914,580 (GRCm39) missense probably damaging 1.00
R2882:Atxn3 UTSW 12 101,903,670 (GRCm39) missense probably damaging 1.00
R4593:Atxn3 UTSW 12 101,889,436 (GRCm39) missense probably benign 0.01
R4628:Atxn3 UTSW 12 101,889,337 (GRCm39) unclassified probably benign
R4849:Atxn3 UTSW 12 101,900,627 (GRCm39) missense probably benign 0.02
R4876:Atxn3 UTSW 12 101,914,638 (GRCm39) missense probably damaging 1.00
R4960:Atxn3 UTSW 12 101,914,638 (GRCm39) missense possibly damaging 0.92
R5682:Atxn3 UTSW 12 101,924,406 (GRCm39) missense probably damaging 1.00
R6010:Atxn3 UTSW 12 101,914,285 (GRCm39) missense probably damaging 1.00
R6520:Atxn3 UTSW 12 101,900,660 (GRCm39) missense probably damaging 1.00
R6629:Atxn3 UTSW 12 101,903,665 (GRCm39) missense probably benign 0.11
R7460:Atxn3 UTSW 12 101,892,776 (GRCm39) missense probably benign 0.15
R7546:Atxn3 UTSW 12 101,914,261 (GRCm39) critical splice donor site probably null
R8353:Atxn3 UTSW 12 101,912,159 (GRCm39) missense probably benign 0.36
R9050:Atxn3 UTSW 12 101,924,387 (GRCm39) splice site probably benign
R9072:Atxn3 UTSW 12 101,903,730 (GRCm39) critical splice acceptor site probably null
R9073:Atxn3 UTSW 12 101,903,730 (GRCm39) critical splice acceptor site probably null
X0061:Atxn3 UTSW 12 101,924,398 (GRCm39) nonsense probably null
Posted On 2012-12-06