Incidental Mutation 'R4626:Atxn1'
ID 348797
Institutional Source Beutler Lab
Gene Symbol Atxn1
Ensembl Gene ENSMUSG00000046876
Gene Name ataxin 1
Synonyms Atx1, Sca1, 2900016G23Rik
MMRRC Submission 041891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4626 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 45703231-46118467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45720575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 440 (Y440C)
Ref Sequence ENSEMBL: ENSMUSP00000137439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091628] [ENSMUST00000167708] [ENSMUST00000180110]
AlphaFold P54254
Predicted Effect probably damaging
Transcript: ENSMUST00000091628
AA Change: Y440C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: Y440C

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 damaging
Transcript: ENSMUST00000167708
AA Change: Y440C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: Y440C

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 damaging
Transcript: ENSMUST00000180110
AA Change: Y440C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: Y440C

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,313,784 (GRCm39) *527G probably null Het
Abca17 A T 17: 24,540,058 (GRCm39) I390N probably damaging 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
Ankrd49 A C 9: 14,693,936 (GRCm39) L77R probably damaging Het
Ap3b1 T A 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Arhgap39 A C 15: 76,621,837 (GRCm39) F255V possibly damaging Het
Atp1a3 T A 7: 24,698,193 (GRCm39) N171I possibly damaging Het
Atp9a T C 2: 168,481,863 (GRCm39) D953G probably damaging Het
Bccip T C 7: 133,322,457 (GRCm39) Y268H possibly damaging Het
Brms1l C A 12: 55,909,958 (GRCm39) P243T probably benign Het
Btbd10 T C 7: 112,927,605 (GRCm39) E250G probably damaging Het
Cacna1e T C 1: 154,358,294 (GRCm39) probably null Het
Cfhr2 A T 1: 139,741,314 (GRCm39) N220K probably damaging Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
D5Ertd579e T C 5: 36,771,903 (GRCm39) I831V possibly damaging Het
F2 T A 2: 91,461,015 (GRCm39) N239I probably benign Het
Fbln5 T A 12: 101,727,086 (GRCm39) D301V probably damaging Het
Fbn2 A T 18: 58,146,819 (GRCm39) C2692* probably null Het
Fhdc1 C T 3: 84,381,557 (GRCm39) D34N probably damaging Het
Galnt13 T A 2: 54,747,878 (GRCm39) M253K probably damaging Het
Gpc6 C A 14: 118,202,255 (GRCm39) Y488* probably null Het
Grm5 G T 7: 87,779,361 (GRCm39) G934C probably damaging Het
Gys1 T C 7: 45,088,958 (GRCm39) L119S probably damaging Het
H2-T15 CTGGGTG CTG 17: 36,368,788 (GRCm39) probably null Het
Htra4 T C 8: 25,527,130 (GRCm39) N222D probably benign Het
Iba57 A G 11: 59,049,287 (GRCm39) V294A probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama5 G A 2: 179,826,253 (GRCm39) T2330M probably damaging Het
Lrguk G A 6: 34,106,158 (GRCm39) E728K probably benign Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mettl18 T A 1: 163,824,045 (GRCm39) V122E probably damaging Het
Mindy2 G A 9: 70,534,063 (GRCm39) S378L probably damaging Het
Mis18bp1 G T 12: 65,187,540 (GRCm39) F854L probably damaging Het
Mtdh C T 15: 34,114,980 (GRCm39) R106* probably null Het
Nup214 T A 2: 31,923,416 (GRCm39) V1315E possibly damaging Het
Nup58 A G 14: 60,476,004 (GRCm39) V271A probably benign Het
Or1j1 A G 2: 36,702,271 (GRCm39) Y278H probably damaging Het
Or4c101 T C 2: 88,390,176 (GRCm39) V121A possibly damaging Het
Or6f2 T C 7: 139,756,359 (GRCm39) S109P probably damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pcdha11 A T 18: 37,140,051 (GRCm39) N560I probably damaging Het
Pcdhb9 T A 18: 37,535,302 (GRCm39) F432Y probably benign Het
Peg10 GGATCC GGATCCCCATCAAGATCC 6: 4,756,460 (GRCm39) probably benign Het
Poll C A 19: 45,543,563 (GRCm39) M385I probably benign Het
Pomt1 A G 2: 32,144,424 (GRCm39) K737E possibly damaging Het
Prr16 C T 18: 51,435,911 (GRCm39) T130I probably damaging Het
Ptpn18 A G 1: 34,510,873 (GRCm39) probably null Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Scn10a A G 9: 119,460,571 (GRCm39) I1101T possibly damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Snx10 A G 6: 51,565,270 (GRCm39) D129G probably damaging Het
Stub1 A G 17: 26,050,845 (GRCm39) probably null Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Trmu T C 15: 85,779,186 (GRCm39) Y278H possibly damaging Het
Ugt2b36 A C 5: 87,239,947 (GRCm39) F146C probably damaging Het
Vav2 T C 2: 27,160,172 (GRCm39) I692V possibly damaging Het
Wdfy3 A G 5: 102,091,800 (GRCm39) L513P probably damaging Het
Zfhx4 T A 3: 5,467,699 (GRCm39) V2619D probably damaging Het
Zfyve26 T A 12: 79,315,844 (GRCm39) N1211Y possibly damaging Het
Zp3r A G 1: 130,542,912 (GRCm39) F142L probably damaging 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
IGL02005:Atxn1 APN 13 45,721,701 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGTACTGCAGCAAACTGGG -3'
(R):5'- TGTGATGGTTCTGCCTAATAGC -3'

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