Incidental Mutation 'IGL02005:Atxn1'
ID 183162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn1
Ensembl Gene ENSMUSG00000046876
Gene Name ataxin 1
Synonyms Atx1, Sca1, 2900016G23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02005
Quality Score
Status
Chromosome 13
Chromosomal Location 45703231-46118467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45721701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 65 (T65A)
Ref Sequence ENSEMBL: ENSMUSP00000137439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091628] [ENSMUST00000167708] [ENSMUST00000180110]
AlphaFold P54254
Predicted Effect probably benign
Transcript: ENSMUST00000091628
AA Change: T65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: T65A

DomainStartEndE-ValueType
low complexity region 47 67 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
Pfam:ATXN-1_C 391 421 8.7e-15 PFAM
AXH 545 664 1.42e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167708
AA Change: T65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: T65A

DomainStartEndE-ValueType
low complexity region 47 67 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
Pfam:ATXN-1_C 391 421 8.7e-15 PFAM
AXH 545 664 1.42e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180110
AA Change: T65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: T65A

DomainStartEndE-ValueType
low complexity region 47 67 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
Pfam:ATXN-1_C 402 421 3e-10 PFAM
low complexity region 537 548 N/A INTRINSIC
Pfam:AXH 550 671 1.1e-44 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,965,927 (GRCm39) D141G probably damaging Het
Ankhd1 T G 18: 36,781,479 (GRCm39) L2177R probably damaging Het
Arhgap23 A T 11: 97,382,045 (GRCm39) D1136V probably damaging Het
Atp6v1b1 A G 6: 83,730,896 (GRCm39) probably benign Het
Bbs4 A G 9: 59,243,638 (GRCm39) probably benign Het
Bms1 G A 6: 118,381,546 (GRCm39) T664M probably damaging Het
Bod1l T C 5: 41,973,682 (GRCm39) D2544G probably benign Het
Cdhr2 C T 13: 54,867,576 (GRCm39) H469Y probably benign Het
Cep57l1 T C 10: 41,616,957 (GRCm39) D110G probably benign Het
Chd4 G A 6: 125,105,779 (GRCm39) E1786K possibly damaging Het
Cltc T C 11: 86,621,045 (GRCm39) K321E possibly damaging Het
Col6a2 T C 10: 76,446,007 (GRCm39) D383G probably damaging Het
Crcp T G 5: 130,071,074 (GRCm39) C58G probably benign Het
Ctc1 A G 11: 68,921,975 (GRCm39) Y807C probably damaging Het
Eml4 T A 17: 83,785,132 (GRCm39) probably benign Het
Glce A T 9: 61,967,859 (GRCm39) L431I probably damaging Het
Glp1r C A 17: 31,143,585 (GRCm39) T207K probably benign Het
Gm28042 G A 2: 119,865,115 (GRCm39) V247I possibly damaging Het
Gvin-ps5 G T 7: 105,928,627 (GRCm39) F423L unknown Het
Hcrtr1 T A 4: 130,031,056 (GRCm39) H76L probably benign Het
Hoxb13 G A 11: 96,085,435 (GRCm39) G56D probably damaging Het
Hykk A G 9: 54,827,842 (GRCm39) E27G possibly damaging Het
Kars1 A T 8: 112,726,736 (GRCm39) L321* probably null Het
Klhl12 A T 1: 134,391,652 (GRCm39) T95S possibly damaging Het
Klhl14 A T 18: 21,757,668 (GRCm39) Y347* probably null Het
Kmt5b A G 19: 3,836,538 (GRCm39) H25R possibly damaging Het
Krtap12-1 T A 10: 77,556,823 (GRCm39) V122D probably damaging Het
Lrrc66 T C 5: 73,766,077 (GRCm39) D322G possibly damaging Het
Lrrc8b T A 5: 105,628,920 (GRCm39) V422D probably benign Het
Med12l T G 3: 59,152,368 (GRCm39) M1051R probably damaging Het
Mmrn1 A G 6: 60,937,728 (GRCm39) Y242C probably damaging Het
Ncf2 A T 1: 152,692,803 (GRCm39) I107L possibly damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pdlim4 T C 11: 53,950,810 (GRCm39) D93G probably benign Het
Pgap1 C A 1: 54,590,214 (GRCm39) A75S probably damaging Het
Pkd1 A G 17: 24,804,978 (GRCm39) D3209G possibly damaging Het
Prcp T C 7: 92,577,032 (GRCm39) S319P probably benign Het
Rasal2 G A 1: 156,984,568 (GRCm39) Q1035* probably null Het
Ryr3 A T 2: 112,493,608 (GRCm39) probably benign Het
Scaf8 T C 17: 3,236,145 (GRCm39) I544T probably damaging Het
Svep1 A T 4: 58,069,056 (GRCm39) V2910E possibly damaging Het
Tln2 C T 9: 67,299,787 (GRCm39) R155Q possibly damaging Het
Trpm7 A T 2: 126,655,104 (GRCm39) L1278H probably damaging Het
Tti2 G T 8: 31,645,858 (GRCm39) G391C probably damaging Het
Ttn C T 2: 76,778,363 (GRCm39) M1295I possibly damaging Het
Ttn T C 2: 76,554,313 (GRCm39) probably benign Het
Vmn1r170 G A 7: 23,306,338 (GRCm39) V247M probably damaging Het
Wdr48 T C 9: 119,734,455 (GRCm39) Y125H probably damaging Het
Wdtc1 C T 4: 133,036,225 (GRCm39) R105H probably benign Het
Zc3h11a A G 1: 133,549,880 (GRCm39) S699P probably benign Het
Zkscan14 C T 5: 145,132,419 (GRCm39) V371I probably benign Het
Zzef1 A T 11: 72,779,125 (GRCm39) Y1862F probably benign Het
Other mutations in Atxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Atxn1 APN 13 45,721,903 (GRCm39) utr 5 prime probably benign
IGL01467:Atxn1 APN 13 45,720,669 (GRCm39) missense probably damaging 1.00
IGL01482:Atxn1 APN 13 45,710,790 (GRCm39) missense probably benign 0.00
IGL01512:Atxn1 APN 13 45,720,077 (GRCm39) missense probably damaging 0.99
IGL01735:Atxn1 APN 13 45,720,198 (GRCm39) missense probably damaging 1.00
IGL02333:Atxn1 APN 13 45,720,680 (GRCm39) missense probably damaging 1.00
Cormorant UTSW 13 45,710,545 (GRCm39) missense probably damaging 1.00
pelagic UTSW 13 45,720,288 (GRCm39) missense probably benign 0.05
R0136:Atxn1 UTSW 13 45,720,645 (GRCm39) missense probably damaging 0.99
R0180:Atxn1 UTSW 13 45,711,024 (GRCm39) missense probably damaging 1.00
R0299:Atxn1 UTSW 13 45,720,645 (GRCm39) missense probably damaging 0.99
R0540:Atxn1 UTSW 13 45,711,006 (GRCm39) missense probably damaging 1.00
R1220:Atxn1 UTSW 13 45,710,899 (GRCm39) missense probably benign 0.08
R1484:Atxn1 UTSW 13 45,711,052 (GRCm39) nonsense probably null
R1532:Atxn1 UTSW 13 45,720,386 (GRCm39) missense possibly damaging 0.95
R1885:Atxn1 UTSW 13 45,721,280 (GRCm39) missense probably benign 0.27
R2277:Atxn1 UTSW 13 45,710,544 (GRCm39) missense probably damaging 0.99
R2847:Atxn1 UTSW 13 45,720,175 (GRCm39) missense probably damaging 1.00
R2849:Atxn1 UTSW 13 45,720,175 (GRCm39) missense probably damaging 1.00
R4326:Atxn1 UTSW 13 46,119,443 (GRCm39) unclassified probably benign
R4626:Atxn1 UTSW 13 45,720,575 (GRCm39) missense probably damaging 1.00
R4768:Atxn1 UTSW 13 45,711,024 (GRCm39) missense probably damaging 1.00
R4944:Atxn1 UTSW 13 45,720,407 (GRCm39) missense probably damaging 1.00
R5011:Atxn1 UTSW 13 45,710,545 (GRCm39) missense probably damaging 1.00
R5061:Atxn1 UTSW 13 45,710,569 (GRCm39) missense probably damaging 1.00
R5293:Atxn1 UTSW 13 45,721,844 (GRCm39) missense probably damaging 1.00
R5299:Atxn1 UTSW 13 45,710,730 (GRCm39) missense probably benign 0.14
R5561:Atxn1 UTSW 13 45,720,347 (GRCm39) missense possibly damaging 0.49
R5667:Atxn1 UTSW 13 45,710,853 (GRCm39) missense probably benign 0.17
R6092:Atxn1 UTSW 13 45,720,288 (GRCm39) missense probably benign 0.05
R6272:Atxn1 UTSW 13 45,721,238 (GRCm39) missense possibly damaging 0.49
R6372:Atxn1 UTSW 13 45,710,932 (GRCm39) missense probably damaging 1.00
R6688:Atxn1 UTSW 13 45,721,147 (GRCm39) missense probably damaging 0.99
R6997:Atxn1 UTSW 13 45,721,095 (GRCm39) missense probably benign 0.04
R7041:Atxn1 UTSW 13 45,720,311 (GRCm39) missense probably damaging 1.00
R7578:Atxn1 UTSW 13 45,720,834 (GRCm39) missense probably benign 0.02
R7600:Atxn1 UTSW 13 45,710,536 (GRCm39) missense possibly damaging 0.90
R8112:Atxn1 UTSW 13 45,721,433 (GRCm39) missense probably benign
R8297:Atxn1 UTSW 13 45,720,505 (GRCm39) missense probably benign
R8411:Atxn1 UTSW 13 45,720,032 (GRCm39) missense probably benign 0.02
R8482:Atxn1 UTSW 13 45,721,426 (GRCm39) missense possibly damaging 0.75
R9022:Atxn1 UTSW 13 45,720,891 (GRCm39) missense probably damaging 1.00
R9269:Atxn1 UTSW 13 45,710,680 (GRCm39) missense probably benign 0.01
R9310:Atxn1 UTSW 13 45,721,494 (GRCm39) missense probably damaging 1.00
R9514:Atxn1 UTSW 13 45,721,433 (GRCm39) missense probably benign
R9626:Atxn1 UTSW 13 45,710,796 (GRCm39) missense possibly damaging 0.92
R9673:Atxn1 UTSW 13 45,710,622 (GRCm39) missense probably benign 0.01
R9744:Atxn1 UTSW 13 45,721,299 (GRCm39) nonsense probably null
Posted On 2014-05-07