Incidental Mutation 'R2275:Atxn7'
ID 242753
Institutional Source Beutler Lab
Gene Symbol Atxn7
Ensembl Gene ENSMUSG00000021738
Gene Name ataxin 7
Synonyms Sca7, A430107N12Rik, ataxin-7
MMRRC Submission 040274-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2275 (G1)
Quality Score 181
Status Not validated
Chromosome 14
Chromosomal Location 8362461-8508323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14013268 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 62 (M62K)
Ref Sequence ENSEMBL: ENSMUSP00000153613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022257] [ENSMUST00000223714] [ENSMUST00000223880]
AlphaFold Q8R4I1
Predicted Effect possibly damaging
Transcript: ENSMUST00000022257
AA Change: M62K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: M62K

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 possibly damaging
Transcript: ENSMUST00000223714
AA Change: M62K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223880
AA Change: M62K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226073
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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. 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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Aco2 C T 15: 81,779,465 (GRCm39) R57C probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Adgrb2 G A 4: 129,900,647 (GRCm39) G333D probably damaging Het
Arhgef7 T A 8: 11,865,010 (GRCm39) F374Y possibly damaging Het
C87436 G A 6: 86,422,582 (GRCm39) R52H probably damaging Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Cdh4 T C 2: 179,532,640 (GRCm39) S701P probably damaging Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Cecr2 C T 6: 120,733,702 (GRCm39) S563L probably benign Het
Cfap276 A G 3: 108,449,819 (GRCm39) N33D possibly damaging Het
Col12a1 A T 9: 79,542,709 (GRCm39) V2352E probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csad G T 15: 102,095,557 (GRCm39) R167S probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
Ehmt2 T A 17: 35,129,691 (GRCm39) N951K possibly damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Enpp2 A C 15: 54,761,190 (GRCm39) Y221D probably damaging Het
Exoc3l A T 8: 106,017,079 (GRCm39) probably null Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Faiml T C 9: 99,111,612 (GRCm39) Y149C probably benign Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Glg1 A T 8: 111,895,353 (GRCm39) Y819* probably null Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gm28042 A C 2: 119,867,310 (GRCm39) Q465P probably damaging Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
Knl1 C A 2: 118,902,762 (GRCm39) Q1488K probably damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mypn A G 10: 62,966,848 (GRCm39) F943L probably damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nrarp T C 2: 25,071,421 (GRCm39) V100A possibly damaging Het
Nt5c1a T C 4: 123,109,873 (GRCm39) F324S probably damaging Het
Ntrk2 T A 13: 59,009,165 (GRCm39) Y319N probably damaging Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Parg A G 14: 32,017,195 (GRCm39) D384G probably damaging Het
Pde7b T A 10: 20,276,165 (GRCm39) *460L probably null Het
Pigr G T 1: 130,774,207 (GRCm39) V396L probably benign Het
Pkhd1 A G 1: 20,271,073 (GRCm39) I3160T possibly damaging Het
Ppl T C 16: 4,912,416 (GRCm39) S722G probably benign Het
Ppp1r26 A G 2: 28,342,713 (GRCm39) E781G possibly damaging Het
Rptor T A 11: 119,647,148 (GRCm39) C246* probably null Het
Rusc2 G A 4: 43,416,260 (GRCm39) R522H probably damaging Het
Senp7 T C 16: 56,005,146 (GRCm39) S927P probably damaging Het
Serpinb6d A T 13: 33,855,411 (GRCm39) M362L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Slco4a1 T C 2: 180,106,529 (GRCm39) L237P possibly damaging Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
Tia1 A G 6: 86,404,659 (GRCm39) N298S probably benign Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Ttc6 G A 12: 57,749,084 (GRCm39) V1339I probably benign Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vmn1r228 A G 17: 20,996,807 (GRCm39) L237P probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r2 T C 3: 64,023,930 (GRCm39) R884G probably benign Het
Vmn2r60 T A 7: 41,786,251 (GRCm39) Y351* probably null Het
Zbtb7a G A 10: 80,980,831 (GRCm39) V342I possibly damaging Het
Zdhhc11 C A 13: 74,121,871 (GRCm39) N127K probably damaging 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
IGL03119:Atxn7 APN 14 14,100,734 (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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-16