Incidental Mutation 'IGL03119:Atxn7'
ID 409915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn7
Ensembl Gene ENSMUSG00000021738
Gene Name ataxin 7
Synonyms A430107N12Rik, ataxin-7, Sca7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03119
Quality Score
Chromosome 14
Chromosomal Location 13961440-14107302 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14100734 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 807 (L807F)
Ref Sequence ENSEMBL: ENSMUSP00000152934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022257] [ENSMUST00000223714] [ENSMUST00000223880]
AlphaFold Q8R4I1
Predicted Effect probably damaging
Transcript: ENSMUST00000022257
AA Change: L807F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: L807F

low complexity region 13 47 N/A INTRINSIC
low complexity region 50 66 N/A INTRINSIC
ZnF_C2H2 135 157 2.47e1 SMART
low complexity region 174 197 N/A INTRINSIC
low complexity region 202 218 N/A INTRINSIC
Pfam:SCA7 313 381 1.4e-30 PFAM
low complexity region 393 413 N/A INTRINSIC
low complexity region 470 484 N/A INTRINSIC
low complexity region 619 647 N/A INTRINSIC
low complexity region 675 713 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223714
AA Change: L807F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223880
AA Change: L807F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223932
Predicted Effect probably benign
Transcript: ENSMUST00000224315
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. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 (GRCm38) T626A probably benign Het
Adcy1 C T 11: 7,109,051 (GRCm38) T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 (GRCm38) S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 (GRCm38) C4742G probably benign Het
Arid5b A T 10: 68,243,227 (GRCm38) D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 (GRCm38) T121A probably benign Het
Cep104 A C 4: 153,981,724 (GRCm38) K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 (GRCm38) E708G probably damaging Het
Dst A G 1: 34,161,062 (GRCm38) Y107C probably damaging Het
E2f3 A G 13: 29,985,365 (GRCm38) S102P probably benign Het
Eif3e A C 15: 43,265,604 (GRCm38) S207A probably benign Het
Etl4 A G 2: 20,713,387 (GRCm38) Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 (GRCm38) V121A probably benign Het
Gstk1 T C 6: 42,249,899 (GRCm38) S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 (GRCm38) F244L probably null Het
Ints7 T C 1: 191,610,365 (GRCm38) V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 (GRCm38) E71* probably null Het
Ltbp3 A T 19: 5,757,443 (GRCm38) Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 (GRCm38) T961A probably benign Het
Naa25 T A 5: 121,434,978 (GRCm38) V720E probably null Het
Olfr1480 T C 19: 13,530,435 (GRCm38) I298T probably benign Het
Olfr599 A G 7: 103,338,722 (GRCm38) I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 (GRCm38) T433N probably damaging Het
Peli1 T C 11: 21,140,560 (GRCm38) probably benign Het
Ptbp1 T C 10: 79,859,624 (GRCm38) V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 (GRCm38) Y31C probably damaging Het
Smg1 G A 7: 118,195,113 (GRCm38) probably benign Het
Stat2 A G 10: 128,283,517 (GRCm38) M457V probably benign Het
Trpm6 G T 19: 18,838,017 (GRCm38) E1156* probably null Het
Usp53 T A 3: 122,961,415 (GRCm38) R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 (GRCm38) S193P probably benign Het
Xrn2 A G 2: 147,042,872 (GRCm38) I626V probably damaging Het
Zfp574 G A 7: 25,080,473 (GRCm38) A307T probably benign Het
Other mutations in Atxn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Atxn7 APN 14 14,096,324 (GRCm38) splice site probably benign
IGL00782:Atxn7 APN 14 14,096,218 (GRCm38) missense possibly damaging 0.78
IGL01405:Atxn7 APN 14 14,100,105 (GRCm38) missense probably benign 0.00
IGL02828:Atxn7 APN 14 14,090,056 (GRCm38) missense probably damaging 1.00
IGL03139:Atxn7 APN 14 14,052,994 (GRCm38) missense probably damaging 0.97
IGL03282:Atxn7 APN 14 14,100,564 (GRCm38) missense probably damaging 0.99
IGL03387:Atxn7 APN 14 14,087,273 (GRCm38) splice site probably benign
Estes_park UTSW 14 14,096,317 (GRCm38) critical splice donor site probably null
Lumpy UTSW 14 14,089,446 (GRCm38) nonsense probably null
Oestes_park UTSW 14 14,096,268 (GRCm38) nonsense probably null
R0034:Atxn7 UTSW 14 14,100,846 (GRCm38) missense probably damaging 0.96
R0408:Atxn7 UTSW 14 14,100,317 (GRCm38) missense probably damaging 1.00
R0853:Atxn7 UTSW 14 14,089,465 (GRCm38) splice site probably benign
R1169:Atxn7 UTSW 14 14,095,468 (GRCm38) missense possibly damaging 0.81
R1678:Atxn7 UTSW 14 14,096,239 (GRCm38) missense probably damaging 1.00
R1802:Atxn7 UTSW 14 14,089,419 (GRCm38) missense probably benign 0.25
R2078:Atxn7 UTSW 14 14,052,975 (GRCm38) missense probably damaging 0.99
R2275:Atxn7 UTSW 14 14,013,268 (GRCm38) missense possibly damaging 0.85
R2394:Atxn7 UTSW 14 14,100,237 (GRCm38) missense probably damaging 1.00
R4118:Atxn7 UTSW 14 14,100,308 (GRCm38) missense probably benign 0.00
R4230:Atxn7 UTSW 14 14,100,381 (GRCm38) missense probably benign 0.00
R4588:Atxn7 UTSW 14 14,096,268 (GRCm38) nonsense probably null
R4688:Atxn7 UTSW 14 14,089,288 (GRCm38) missense probably benign 0.00
R4935:Atxn7 UTSW 14 14,100,401 (GRCm38) missense probably benign
R5041:Atxn7 UTSW 14 14,096,317 (GRCm38) critical splice donor site probably null
R5185:Atxn7 UTSW 14 14,090,063 (GRCm38) missense probably benign 0.04
R5561:Atxn7 UTSW 14 14,089,260 (GRCm38) missense probably benign 0.19
R5641:Atxn7 UTSW 14 14,013,638 (GRCm38) missense probably damaging 0.99
R6490:Atxn7 UTSW 14 14,089,446 (GRCm38) nonsense probably null
R6549:Atxn7 UTSW 14 14,013,087 (GRCm38) missense probably damaging 0.99
R6623:Atxn7 UTSW 14 14,099,972 (GRCm38) missense probably damaging 1.00
R6950:Atxn7 UTSW 14 14,095,511 (GRCm38) missense probably damaging 1.00
R7054:Atxn7 UTSW 14 14,100,878 (GRCm38) missense probably benign 0.08
R7402:Atxn7 UTSW 14 14,095,427 (GRCm38) missense probably damaging 0.98
R7762:Atxn7 UTSW 14 14,100,467 (GRCm38) missense probably damaging 1.00
R8432:Atxn7 UTSW 14 14,013,635 (GRCm38) missense probably benign 0.06
R8786:Atxn7 UTSW 14 14,103,316 (GRCm38) missense possibly damaging 0.78
R9238:Atxn7 UTSW 14 14,089,441 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02