Incidental Mutation 'R6272:Atxn1'
ID 507416
Institutional Source Beutler Lab
Gene Symbol Atxn1
Ensembl Gene ENSMUSG00000046876
Gene Name ataxin 1
Synonyms Atx1, Sca1, 2900016G23Rik
MMRRC Submission 044442-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6272 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 45703231-46118467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45721238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 219 (Q219L)
Ref Sequence ENSEMBL: ENSMUSP00000137439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091628] [ENSMUST00000167708] [ENSMUST00000180110]
AlphaFold P54254
Predicted Effect possibly damaging
Transcript: ENSMUST00000091628
AA Change: Q219L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: Q219L

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 possibly damaging
Transcript: ENSMUST00000167708
AA Change: Q219L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: Q219L

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 possibly damaging
Transcript: ENSMUST00000180110
AA Change: Q219L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: Q219L

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
Meta Mutation Damage Score 0.0850 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Adgrg3 A G 8: 95,762,889 (GRCm39) I189V noncoding transcript Het
Ampd1 A G 3: 102,992,699 (GRCm39) K147R possibly damaging Het
Apbb2 T C 5: 66,468,415 (GRCm39) T561A probably damaging Het
Arfgef3 A T 10: 18,522,711 (GRCm39) D438E probably benign Het
AW551984 A T 9: 39,509,333 (GRCm39) D269E probably benign Het
Cryab A G 9: 50,665,825 (GRCm39) K72R possibly damaging Het
Dbn1 G A 13: 55,622,917 (GRCm39) A522V probably benign Het
Dip2a A T 10: 76,122,241 (GRCm39) *158R probably null Het
Edrf1 C T 7: 133,239,537 (GRCm39) probably benign Het
Ern2 A T 7: 121,775,869 (GRCm39) D408E probably benign Het
F830016B08Rik T C 18: 60,433,150 (GRCm39) S78P probably damaging Het
Fah C A 7: 84,244,753 (GRCm39) G137C probably damaging Het
Foxd3 A G 4: 99,544,977 (GRCm39) D39G probably damaging Het
Gprin3 G A 6: 59,330,316 (GRCm39) Q664* probably null Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
H3c6 A T 13: 23,746,400 (GRCm39) V47E probably damaging Het
Hmgcll1 G A 9: 76,037,627 (GRCm39) G174R probably damaging Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kynu A T 2: 43,525,001 (GRCm39) N315Y probably benign Het
Map1lc3b G A 8: 122,323,429 (GRCm39) E100K probably benign Het
Matn2 T A 15: 34,355,753 (GRCm39) Q33L possibly damaging Het
Mettl8 T C 2: 70,806,419 (GRCm39) probably null Het
Neto1 A T 18: 86,512,940 (GRCm39) N312Y probably damaging Het
Nhsl1 A G 10: 18,400,253 (GRCm39) D493G probably benign Het
Nup210l A G 3: 90,077,331 (GRCm39) E889G possibly damaging Het
Or13l2 A G 3: 97,318,207 (GRCm39) F97L probably benign Het
Or14c42-ps1 A G 7: 86,211,081 (GRCm39) Y47C unknown Het
Or2y13 C A 11: 49,414,953 (GRCm39) S134R possibly damaging Het
Or5ac25 A C 16: 59,181,948 (GRCm39) M211R possibly damaging Het
Or5w20 G A 2: 87,727,001 (GRCm39) V153I probably benign Het
Or6k2 C T 1: 173,986,741 (GRCm39) T134I probably benign Het
Or8g4 A T 9: 39,661,816 (GRCm39) M45L probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phc2 A G 4: 128,603,440 (GRCm39) Y190C probably damaging Het
Platr25 T C 13: 62,820,811 (GRCm39) T347A possibly damaging Het
Plec T C 15: 76,059,053 (GRCm39) E3655G probably damaging Het
Plekhg3 A T 12: 76,623,619 (GRCm39) Q954L probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prdm4 G A 10: 85,743,694 (GRCm39) T187I possibly damaging Het
Prg4 T C 1: 150,330,517 (GRCm39) probably benign Het
Prpf18 G A 2: 4,638,258 (GRCm39) R312W probably damaging Het
Rnf213 T A 11: 119,305,374 (GRCm39) V535D probably damaging Het
Rtcb A T 10: 85,791,638 (GRCm39) N39K probably damaging Het
Slc4a3 G A 1: 75,531,341 (GRCm39) probably null Het
Szt2 A C 4: 118,231,487 (GRCm39) probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tfap2e A T 4: 126,615,657 (GRCm39) V259D probably damaging Het
Trav19 A G 14: 54,083,255 (GRCm39) D110G probably damaging Het
Ttc17 A C 2: 94,189,100 (GRCm39) C749W probably damaging Het
Ttc8 A G 12: 98,948,753 (GRCm39) K490E possibly damaging Het
Ube4b A G 4: 149,471,590 (GRCm39) S99P probably damaging Het
Ubqln3 C T 7: 103,791,385 (GRCm39) R235H probably damaging Het
Vmn2r61 A T 7: 41,949,242 (GRCm39) D554V probably damaging Het
Vmn2r70 A T 7: 85,208,194 (GRCm39) V761E probably damaging Het
Vmn2r97 T C 17: 19,167,861 (GRCm39) I705T possibly damaging Het
Wwox G A 8: 115,215,692 (GRCm39) C155Y probably damaging Het
Zfp451 T C 1: 33,842,325 (GRCm39) probably benign Het
Zfp582 C T 7: 6,356,844 (GRCm39) P219L 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
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
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'- TCTCGAGGAACAAAGTGGC -3'
(R):5'- TGATCTCCCCATCAGGCAAC -3'

Sequencing Primer
(F):5'- GAACAAAGTGGCCTCCGG -3'
(R):5'- TCACCAGTGCAGTAGCCTCAG -3'
Posted On 2018-03-15