Incidental Mutation 'R4628:Atxn3'
ID 348983
Institutional Source Beutler Lab
Gene Symbol Atxn3
Ensembl Gene ENSMUSG00000021189
Gene Name ataxin 3
Synonyms ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3
MMRRC Submission 041893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4628 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 101885160-101924505 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 101889337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021606]
AlphaFold Q9CVD2
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: 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
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,851,022 (GRCm39) probably null Het
Abcb4 A G 5: 8,957,399 (GRCm39) D176G probably benign Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd12 T C 17: 66,292,989 (GRCm39) T815A probably benign Het
Arid3a T C 10: 79,766,992 (GRCm39) S89P possibly damaging Het
Ass1 A T 2: 31,371,000 (GRCm39) D63V probably damaging Het
Bcap29 C T 12: 31,676,806 (GRCm39) S88N probably benign Het
Bsn G T 9: 107,990,434 (GRCm39) P1773T probably damaging Het
Ccdc141 A G 2: 76,890,024 (GRCm39) S423P probably benign Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Chd8 T C 14: 52,444,372 (GRCm39) R438G probably benign Het
Chd9 T A 8: 91,710,091 (GRCm39) M289K probably benign Het
Col14a1 T A 15: 55,313,229 (GRCm39) Y26* probably null Het
Colec10 A G 15: 54,323,127 (GRCm39) T117A possibly damaging Het
Colq C A 14: 31,265,979 (GRCm39) G178V probably damaging Het
Defb3 A T 8: 19,345,156 (GRCm39) R37S probably benign Het
Duox1 A G 2: 122,176,733 (GRCm39) Y1418C probably damaging Het
Engase C T 11: 118,375,731 (GRCm39) S33F probably damaging Het
Erich3 A T 3: 154,469,324 (GRCm39) T1259S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fhod3 T A 18: 25,253,186 (GRCm39) F1379I possibly damaging Het
Fndc3b T C 3: 27,610,277 (GRCm39) I86V probably benign Het
Gm1123 A G 9: 98,896,289 (GRCm39) V197A probably damaging Het
Gm4847 A T 1: 166,457,964 (GRCm39) V463E probably damaging Het
Gm9772 T C 17: 22,226,188 (GRCm39) K32R probably damaging Het
Gm9804 T C 12: 49,448,540 (GRCm39) S161P unknown Het
Gpr162 C T 6: 124,838,405 (GRCm39) D82N probably benign Het
Grid2ip T C 5: 143,368,630 (GRCm39) V650A probably damaging Het
Hs1bp3 T C 12: 8,386,357 (GRCm39) V253A probably benign Het
Hsd3b6 T G 3: 98,713,895 (GRCm39) K135Q possibly damaging Het
Igfn1 T C 1: 135,887,468 (GRCm39) D2532G possibly damaging Het
Iqgap2 A G 13: 95,899,837 (GRCm39) Y74H probably benign Het
Itga2 A G 13: 115,014,229 (GRCm39) V233A probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lcmt1 T A 7: 123,010,035 (GRCm39) C183* probably null Het
Lcn5 A G 2: 25,548,075 (GRCm39) E28G possibly damaging Het
Leo1 A T 9: 75,352,979 (GRCm39) D174V probably damaging Het
Llgl1 A T 11: 60,600,811 (GRCm39) T636S probably damaging Het
Lrrc8e T A 8: 4,283,981 (GRCm39) C69S probably damaging Het
Maml3 A T 3: 51,703,891 (GRCm39) probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mrpl24 A C 3: 87,829,436 (GRCm39) probably null Het
Myo18a G A 11: 77,714,962 (GRCm39) V834M probably damaging Het
Neb T A 2: 52,198,362 (GRCm39) R461* probably null Het
Notch4 C A 17: 34,789,159 (GRCm39) T486N probably damaging Het
Nphp3 A G 9: 103,880,257 (GRCm39) E93G probably damaging Het
Nup188 A G 2: 30,219,358 (GRCm39) Y858C probably damaging Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Or13a28 C T 7: 140,218,297 (GRCm39) R228C probably benign Het
Or1j11 T A 2: 36,311,869 (GRCm39) L153* probably null Het
Otud4 T A 8: 80,366,597 (GRCm39) D21E possibly damaging Het
Ovgp1 T A 3: 105,887,639 (GRCm39) probably null Het
Pdia3 A T 2: 121,244,620 (GRCm39) N11I possibly damaging Het
Pex5 T C 6: 124,380,079 (GRCm39) D286G possibly damaging Het
Pias3 T C 3: 96,607,136 (GRCm39) I133T probably damaging Het
Postn A G 3: 54,279,578 (GRCm39) D352G probably damaging Het
Prl7c1 T C 13: 27,962,065 (GRCm39) R81G probably benign Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rtraf T A 14: 19,867,155 (GRCm39) N116I probably benign Het
Semp2l2a T A 8: 13,886,625 (GRCm39) R489W probably damaging Het
Slc6a12 T A 6: 121,328,951 (GRCm39) C50* probably null Het
Spring1 G C 5: 118,397,479 (GRCm39) A154P probably damaging Het
Srcin1 T A 11: 97,439,752 (GRCm39) H126L probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Uroc1 A T 6: 90,332,310 (GRCm39) I556F probably damaging Het
Vmn1r124 T A 7: 20,994,302 (GRCm39) K81* probably null Het
Vmn1r57 T A 7: 5,223,972 (GRCm39) C166S probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r68 A G 7: 84,883,673 (GRCm39) V144A probably benign Het
Vmn2r85 C T 10: 130,261,235 (GRCm39) M367I probably benign Het
Vwa3a T A 7: 120,392,598 (GRCm39) N812K probably benign Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfhx4 G A 3: 5,468,536 (GRCm39) R2898H probably damaging Het
Other mutations in Atxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Atxn3 APN 12 101,892,767 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AGTTGGTCCAAAAGAGCCAAC -3'
(R):5'- TGATGGGGATCTTGCAGAAG -3'

Sequencing Primer
(F):5'- CGGGACATTTAGAAAAGTTTCTTTC -3'
(R):5'- AAGTTGTTCTGAGAACTCTGTTTTC -3'
Posted On 2015-10-08