Incidental Mutation 'R9626:Atxn1'
ID 725171
Institutional Source Beutler Lab
Gene Symbol Atxn1
Ensembl Gene ENSMUSG00000046876
Gene Name ataxin 1
Synonyms Atx1, Sca1, 2900016G23Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9626 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 45703231-46118467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45710796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 712 (N712I)
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: N704I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: N704I

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: N704I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: N704I

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: N712I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: N712I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,127,502 (GRCm39) N37I unknown Het
Abca9 T A 11: 110,011,606 (GRCm39) T1146S probably benign Het
Acnat2 G A 4: 49,380,179 (GRCm39) H400Y probably damaging Het
Adgrd1 T C 5: 129,275,721 (GRCm39) S768P probably damaging Het
Arap2 T A 5: 62,906,878 (GRCm39) H47L probably benign Het
Bri3bp T A 5: 125,531,572 (GRCm39) S173T probably damaging Het
Camta1 A T 4: 151,168,287 (GRCm39) S254R probably damaging Het
Card9 T C 2: 26,247,294 (GRCm39) E285G probably benign Het
Celf2 G A 2: 6,590,835 (GRCm39) A320V probably benign Het
Celsr3 T C 9: 108,726,521 (GRCm39) I3250T probably damaging Het
Cfap46 C T 7: 139,230,805 (GRCm39) R941H Het
Cntrob T C 11: 69,202,167 (GRCm39) H475R possibly damaging Het
Dcaf6 G A 1: 165,227,264 (GRCm39) R288* probably null Het
Ebna1bp2 G A 4: 118,478,371 (GRCm39) probably benign Het
Erich3 A T 3: 154,444,730 (GRCm39) D302V probably benign Het
Fbxo48 T A 11: 16,904,333 (GRCm39) *162K probably null Het
Fyttd1 T C 16: 32,725,915 (GRCm39) L290S probably damaging Het
Gcc1 T C 6: 28,418,917 (GRCm39) D472G probably damaging Het
Gjb4 C T 4: 127,246,081 (GRCm39) probably benign Het
Gm5157 G T 7: 20,919,396 (GRCm39) T49K probably damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Hnrnpm G T 17: 33,896,264 (GRCm39) D88E probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Hunk C T 16: 90,272,791 (GRCm39) T365M probably damaging Het
Lamb1 A G 12: 31,354,669 (GRCm39) D972G probably benign Het
Mamdc4 A G 2: 25,458,273 (GRCm39) L379P probably damaging Het
Mcrs1 A G 15: 99,146,353 (GRCm39) L179P probably damaging Het
Mterf2 C T 10: 84,956,295 (GRCm39) A110T probably benign Het
Mucl1 A G 15: 103,783,934 (GRCm39) S91P possibly damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Ndst4 A C 3: 125,476,829 (GRCm39) D18A probably damaging Het
Ndufv1 A T 19: 4,058,064 (GRCm39) C382* probably null Het
Npc1l1 T C 11: 6,177,854 (GRCm39) K519E probably benign Het
Nphs1 A G 7: 30,166,991 (GRCm39) K747E probably benign Het
Nubp2 C G 17: 25,103,374 (GRCm39) probably null Het
Odad2 G T 18: 7,211,422 (GRCm39) C817* probably null Het
Or13a19 T C 7: 139,903,236 (GRCm39) V208A probably benign Het
Or5b97 A T 19: 12,878,600 (GRCm39) D181E possibly damaging Het
Or7a36 T G 10: 78,820,213 (GRCm39) D196E probably benign Het
Or7a40 A G 16: 16,491,491 (GRCm39) M118T probably damaging Het
Or8b48 A G 9: 38,492,977 (GRCm39) T135A probably benign Het
Pcdhac2 T G 18: 37,279,555 (GRCm39) L845R probably damaging Het
Pcdhb14 A C 18: 37,581,787 (GRCm39) T298P probably damaging Het
Phldb2 A T 16: 45,592,547 (GRCm39) L957Q possibly damaging Het
Pole A G 5: 110,459,959 (GRCm39) D1121G possibly damaging Het
Ppp1r3g C A 13: 36,153,612 (GRCm39) T344K probably benign Het
Prpf8 A G 11: 75,385,681 (GRCm39) K954R possibly damaging Het
Prr15l C A 11: 96,825,440 (GRCm39) Y23* probably null Het
Sap18b A G 8: 96,552,098 (GRCm39) E36G possibly damaging Het
Slc46a2 A T 4: 59,914,241 (GRCm39) F227L probably benign Het
Spata13 C T 14: 60,944,349 (GRCm39) P581S probably benign Het
Spmip4 T A 6: 50,550,930 (GRCm39) K506N Het
Ssc5d C A 7: 4,946,568 (GRCm39) T974K probably benign Het
Tenm4 C A 7: 96,545,345 (GRCm39) R2491S probably damaging Het
Tex2 T C 11: 106,437,579 (GRCm39) E697G unknown Het
Tmem44 A T 16: 30,366,226 (GRCm39) F67I possibly damaging Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Ttc39a A G 4: 109,278,570 (GRCm39) D77G possibly damaging Het
Ttc9 A G 12: 81,710,301 (GRCm39) I198V probably benign Het
Ttn C T 2: 76,661,550 (GRCm39) V11942M unknown Het
Uqcrc2 T A 7: 120,237,118 (GRCm39) Y55* probably null Het
Vmn1r160 A T 7: 22,571,273 (GRCm39) M209L probably benign Het
Vmn2r50 A T 7: 9,771,960 (GRCm39) C580* probably null Het
Vmn2r96 A G 17: 18,793,758 (GRCm39) E34G probably benign Het
Zmynd8 C T 2: 165,654,268 (GRCm39) probably null 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
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
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'- TCCGACTTCTCCAGTTTACGGG -3'
(R):5'- TTTGGACAGGGCTGGTCATC -3'

Sequencing Primer
(F):5'- GACTTCTCCAGTTTACGGGTCTCC -3'
(R):5'- GGACCAGCCAGCTCTTTGATC -3'
Posted On 2022-09-12