Incidental Mutation 'IGL01374:Atxn1'
ID 78673
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 # IGL01374
Quality Score
Status
Chromosome 13
Chromosomal Location 45703231-46118467 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 45721903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091628] [ENSMUST00000167708] [ENSMUST00000180110]
AlphaFold P54254
Predicted Effect probably benign
Transcript: ENSMUST00000091628
SMART Domains Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876

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
SMART Domains Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876

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
SMART Domains Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,747,830 (GRCm39) H54R probably benign Het
Acsl6 T C 11: 54,229,245 (GRCm39) V359A probably damaging Het
Aldh3a2 C T 11: 61,139,828 (GRCm39) V435I probably benign Het
Atm A T 9: 53,443,024 (GRCm39) S80T possibly damaging Het
Atp8b4 A T 2: 126,225,577 (GRCm39) probably benign Het
Chd3 T C 11: 69,250,806 (GRCm39) E641G probably damaging Het
Clpb T C 7: 101,422,335 (GRCm39) V346A probably damaging Het
Ctnnbl1 T A 2: 157,678,613 (GRCm39) probably null Het
Cyp2b19 C T 7: 26,458,504 (GRCm39) P73L probably benign Het
Dcc T C 18: 71,507,624 (GRCm39) Y916C probably damaging Het
Fat4 A G 3: 38,941,647 (GRCm39) N180S probably damaging Het
Foxi1 A C 11: 34,157,984 (GRCm39) C14G probably damaging Het
Fut4 G T 9: 14,662,786 (GRCm39) F169L probably benign Het
Grip1 T C 10: 119,885,273 (GRCm39) S748P probably benign Het
Hnrnpr T C 4: 136,054,729 (GRCm39) probably benign Het
Ifnz G A 4: 88,701,578 (GRCm39) probably benign Het
Krt28 A G 11: 99,262,294 (GRCm39) V232A probably benign Het
Lyar C A 5: 38,385,391 (GRCm39) probably null Het
Manba G A 3: 135,260,541 (GRCm39) W575* probably null Het
Morc3 T A 16: 93,641,101 (GRCm39) D44E probably damaging Het
Mrc2 T A 11: 105,238,469 (GRCm39) Y1205* probably null Het
Myh2 A T 11: 67,068,250 (GRCm39) T293S probably benign Het
Nlrp10 T A 7: 108,523,788 (GRCm39) K564I possibly damaging Het
Nuak1 A G 10: 84,210,532 (GRCm39) S519P probably damaging Het
Or12k5 T C 2: 36,894,942 (GRCm39) H228R probably benign Het
Or9m2 T C 2: 87,820,892 (GRCm39) F146L probably benign Het
Padi2 T A 4: 140,660,496 (GRCm39) N325K probably damaging Het
Pcdhb19 A T 18: 37,631,042 (GRCm39) Y279F probably damaging Het
Phldb1 A G 9: 44,607,464 (GRCm39) L1247P probably damaging Het
Rmdn3 A G 2: 118,984,428 (GRCm39) V108A probably damaging Het
Slc22a5 A G 11: 53,758,490 (GRCm39) F437L probably benign Het
Slc3a2 C T 19: 8,690,701 (GRCm39) probably null Het
Slc5a3 T A 16: 91,874,006 (GRCm39) M21K probably benign Het
Spink5 T A 18: 44,122,471 (GRCm39) F312Y possibly damaging Het
Stab1 T C 14: 30,869,032 (GRCm39) Y1531C probably damaging Het
Tln2 C A 9: 67,169,205 (GRCm39) A433S probably damaging Het
Usp24 C T 4: 106,237,296 (GRCm39) L1076F possibly damaging Het
Vmn2r117 T C 17: 23,697,356 (GRCm39) Y112C possibly damaging Het
Vmn2r16 C T 5: 109,478,283 (GRCm39) L13F probably benign Het
Vmn2r76 T C 7: 85,874,857 (GRCm39) M707V probably benign Het
Zmym4 A T 4: 126,762,750 (GRCm39) F1358I probably damaging Het
Other mutations in Atxn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-05