Incidental Mutation 'R4688:Atxn7'
ID 353894
Institutional Source Beutler Lab
Gene Symbol Atxn7
Ensembl Gene ENSMUSG00000021738
Gene Name ataxin 7
Synonyms Sca7, A430107N12Rik, ataxin-7
MMRRC Submission 041939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4688 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 8362461-8508323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14089288 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 268 (M268K)
Ref Sequence ENSEMBL: ENSMUSP00000152934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022257] [ENSMUST00000223714] [ENSMUST00000223880]
AlphaFold Q8R4I1
Predicted Effect probably benign
Transcript: ENSMUST00000022257
AA Change: M268K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: M268K

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 benign
Transcript: ENSMUST00000223714
AA Change: M268K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000223880
AA Change: M268K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224616
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,680 (GRCm39) N535S probably damaging Het
Abcc12 T C 8: 87,275,323 (GRCm39) S452G possibly damaging Het
Acacb C A 5: 114,342,824 (GRCm39) Q897K probably benign Het
Acot3 C A 12: 84,100,691 (GRCm39) R145S probably damaging Het
Ankrd54 A T 15: 78,938,782 (GRCm39) Y247N probably damaging Het
Arl11 G A 14: 61,548,546 (GRCm39) V119I probably benign Het
Atosb A G 4: 43,034,663 (GRCm39) F352S probably damaging Het
Bms1 G A 6: 118,369,667 (GRCm39) R934C probably damaging Het
Brd10 A G 19: 29,694,501 (GRCm39) I1664T probably benign Het
Chrnb3 T C 8: 27,884,147 (GRCm39) S295P probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cnr1 A T 4: 33,944,571 (GRCm39) I320F probably benign Het
Cntn4 C T 6: 106,414,910 (GRCm39) P147L probably damaging Het
Col24a1 G A 3: 145,020,144 (GRCm39) V172I probably benign Het
Col9a3 A G 2: 180,249,424 (GRCm39) D262G probably damaging Het
Csrnp2 A G 15: 100,380,241 (GRCm39) V350A probably damaging Het
D630045J12Rik A G 6: 38,173,592 (GRCm39) V192A possibly damaging Het
Deptor A G 15: 55,072,177 (GRCm39) M219V probably benign Het
Dmrtb1 A T 4: 107,541,247 (GRCm39) L38Q probably damaging Het
Dvl2 G A 11: 69,898,344 (GRCm39) R367Q possibly damaging Het
Dync1h1 T G 12: 110,621,962 (GRCm39) I3435S probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Eif2b3 A G 4: 116,916,046 (GRCm39) N218D probably benign Het
Epha2 A G 4: 141,046,292 (GRCm39) D497G probably benign Het
Epha7 G T 4: 28,821,367 (GRCm39) L177F probably damaging Het
Fam98c C T 7: 28,854,666 (GRCm39) E147K probably damaging Het
Fbxo17 A G 7: 28,431,979 (GRCm39) T19A probably benign Het
Fbxo47 A G 11: 97,747,049 (GRCm39) F339S probably damaging Het
Frmd4a G T 2: 4,542,122 (GRCm39) V234L possibly damaging Het
Gal3st2 A G 1: 93,800,245 (GRCm39) D32G probably damaging Het
Gpr135 T C 12: 72,117,720 (GRCm39) T16A probably benign Het
Gpr160 A T 3: 30,950,835 (GRCm39) R302S probably benign Het
Hrh2 C A 13: 54,368,820 (GRCm39) N265K probably benign Het
Htatip2 C A 7: 49,423,171 (GRCm39) A242E probably damaging Het
Igfbp7 T C 5: 77,555,482 (GRCm39) Y127C probably damaging Het
Igkv16-104 A G 6: 68,402,878 (GRCm39) Q57R possibly damaging Het
Ino80c A G 18: 24,241,903 (GRCm39) S161P probably damaging Het
Itprid1 G A 6: 55,944,132 (GRCm39) probably null Het
Kcnc1 A G 7: 46,047,259 (GRCm39) D53G probably benign Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Lce1h G T 3: 92,670,874 (GRCm39) R93S unknown Het
Lce1k T C 3: 92,713,951 (GRCm39) S78G unknown Het
Lhcgr T A 17: 89,072,580 (GRCm39) I156F probably damaging Het
Lpl T C 8: 69,352,077 (GRCm39) Y343H probably damaging Het
Lrp6 G T 6: 134,456,706 (GRCm39) R853S probably damaging Het
Lrrc7 A G 3: 157,854,242 (GRCm39) V1322A probably damaging Het
Lrrc74a C T 12: 86,784,472 (GRCm39) Q67* probably null Het
Megf6 A T 4: 154,338,271 (GRCm39) D447V probably damaging Het
Mep1a T C 17: 43,793,139 (GRCm39) D355G possibly damaging Het
Ncoa1 T C 12: 4,365,781 (GRCm39) D95G probably benign Het
Npepl1 A T 2: 173,956,235 (GRCm39) I139F possibly damaging Het
Nrcam T C 12: 44,594,020 (GRCm39) S262P probably benign Het
Nrp1 A G 8: 129,229,047 (GRCm39) N842D probably benign Het
Olfml3 A G 3: 103,639,497 (GRCm39) probably benign Het
Or1x6 A G 11: 50,939,815 (GRCm39) R294G probably damaging Het
Or4b1d T A 2: 89,969,343 (GRCm39) N47Y possibly damaging Het
Or6b6 T A 7: 106,571,068 (GRCm39) Y161F probably benign Het
Or6c204 G A 10: 129,022,514 (GRCm39) P259S probably damaging Het
Or6k8-ps1 T C 1: 173,979,162 (GRCm39) Y27H possibly damaging Het
Or8b3b A G 9: 38,584,659 (GRCm39) L27P probably damaging Het
Or9i1b A T 19: 13,896,605 (GRCm39) T74S probably benign Het
Pde2a A G 7: 101,152,041 (GRCm39) N316S probably benign Het
Pde4dip T A 3: 97,750,993 (GRCm39) R74* probably null Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Piezo1 A T 8: 123,215,278 (GRCm39) W1444R probably damaging Het
Pla2g4e T C 2: 119,998,414 (GRCm39) K843R possibly damaging Het
Plxna2 C T 1: 194,326,753 (GRCm39) P229L probably damaging Het
Prelid3b G T 2: 174,308,592 (GRCm39) T131K probably benign Het
Pros1 T C 16: 62,709,370 (GRCm39) probably null Het
Prrc2c G T 1: 162,525,256 (GRCm39) P450Q unknown Het
Ptbp1 G T 10: 79,692,342 (GRCm39) V5F possibly damaging Het
Ptk2 T A 15: 73,078,074 (GRCm39) L997F probably damaging Het
Rims1 G T 1: 22,518,528 (GRCm39) S525* probably null Het
Sanbr A G 11: 23,543,449 (GRCm39) S530P probably benign Het
Sh2b3 T A 5: 121,956,697 (GRCm39) D318V probably benign Het
Slc16a13 A T 11: 70,111,101 (GRCm39) I88N probably damaging Het
Slit2 T A 5: 48,414,345 (GRCm39) probably null Het
Snx10 A G 6: 51,556,918 (GRCm39) N67S probably damaging Het
Stil A G 4: 114,898,505 (GRCm39) Y1045C probably damaging Het
Stra6 A G 9: 58,042,359 (GRCm39) probably null Het
Sympk A G 7: 18,788,335 (GRCm39) S1254G probably benign Het
Syt15 G T 14: 33,950,011 (GRCm39) G377V probably damaging Het
Taar4 A T 10: 23,836,731 (GRCm39) I114F probably damaging Het
Tcaf3 G A 6: 42,570,300 (GRCm39) probably null Het
Tgm7 A T 2: 120,924,502 (GRCm39) N558K probably benign Het
Tln2 T G 9: 67,304,935 (GRCm39) M1L probably benign Het
Trim50 C T 5: 135,395,994 (GRCm39) T314I probably damaging Het
Trp53rka A T 2: 165,333,312 (GRCm39) Y192* probably null Het
Ube3b T C 5: 114,531,139 (GRCm39) V211A probably benign Het
Ush2a A G 1: 188,132,138 (GRCm39) S787G probably benign Het
Vmn1r189 T C 13: 22,286,289 (GRCm39) M183V probably damaging Het
Vps13d G T 4: 144,904,782 (GRCm39) Q115K probably benign Het
Zfp358 A G 8: 3,545,493 (GRCm39) D25G probably damaging Het
Zfp521 T G 18: 13,977,647 (GRCm39) K922T probably damaging Het
Zfp521 T A 18: 13,977,648 (GRCm39) K922* probably null Het
Zfp68 T A 5: 138,614,743 (GRCm39) K4* probably null 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
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
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 2015-10-21