Incidental Mutation 'IGL01295:Atn1'
ID73038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atn1
Ensembl Gene ENSMUSG00000004263
Gene Nameatrophin 1
Synonymsatrophin-1, Drpla, Atr1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01295
Quality Score
Status
Chromosome6
Chromosomal Location124742544-124756524 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124749276 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 80 (E80G)
Ref Sequence ENSEMBL: ENSMUSP00000123560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000146872]
Predicted Effect unknown
Transcript: ENSMUST00000088357
AA Change: E80G
SMART Domains Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 191 7.9e-30 PFAM
low complexity region 209 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
low complexity region 256 297 N/A INTRINSIC
low complexity region 301 317 N/A INTRINSIC
low complexity region 351 372 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
Pfam:Atrophin-1 405 1174 4.6e-209 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000129411
AA Change: E80G
SMART Domains Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 164 3.8e-33 PFAM
low complexity region 209 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
low complexity region 256 297 N/A INTRINSIC
low complexity region 301 317 N/A INTRINSIC
Pfam:Atrophin-1 327 1175 1.7e-192 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133577
Predicted Effect probably damaging
Transcript: ENSMUST00000146872
AA Change: E80G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263
AA Change: E80G

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 182 2.6e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice are viable and fertile, however mice expressing a truncated protein lacking the poly-Q repeat and C-terminal peptides display growth retardation, progressive male infertility with small testis and low sperm counts, and consume less food. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,661,936 L691I possibly damaging Het
Ano7 A G 1: 93,380,478 D77G probably benign Het
Apol10b A T 15: 77,585,596 V127E probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Carmil2 T C 8: 105,695,516 M1139T probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Celf5 G T 10: 81,467,080 probably benign Het
Chd6 G A 2: 160,988,370 probably benign Het
Col12a1 A T 9: 79,643,926 V2136E probably damaging Het
Col4a1 G T 8: 11,236,075 probably benign Het
Dph1 A G 11: 75,180,949 probably benign Het
Dvl2 G T 11: 70,009,584 V735F possibly damaging Het
Eif3b A G 5: 140,441,740 I709V possibly damaging Het
Elp5 C T 11: 69,968,470 probably benign Het
Exd1 A T 2: 119,530,079 probably benign Het
Fbxl4 C A 4: 22,427,348 R530S probably benign Het
Fmo4 A T 1: 162,799,124 D284E probably damaging Het
Fn3krp A G 11: 121,421,554 Y31C probably damaging Het
Galnt14 G T 17: 73,504,919 Q436K probably benign Het
Gm5114 A T 7: 39,407,817 W793R probably damaging Het
Gm9376 T G 14: 118,267,647 S164A possibly damaging Het
Gtf2ird2 G A 5: 134,192,764 D69N probably damaging Het
Hfm1 A C 5: 106,917,606 M69R possibly damaging Het
Ighv9-1 A C 12: 114,093,999 S94A probably damaging Het
Ikzf2 C T 1: 69,577,987 R67H probably benign Het
Ipcef1 A T 10: 6,900,642 F316L probably damaging Het
Kdsr A G 1: 106,755,457 V62A possibly damaging Het
Kif23 A T 9: 61,932,129 C279S possibly damaging Het
Klf5 C T 14: 99,301,721 T110I probably benign Het
Klhl25 T A 7: 75,865,872 H175Q probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Nfatc4 T C 14: 55,832,505 V710A probably benign Het
Olfr1404 A T 1: 173,215,873 Y74F probably damaging Het
Olfr68 C T 7: 103,778,241 V35I probably benign Het
Optn G A 2: 5,033,156 T409I possibly damaging Het
Pabpc2 T A 18: 39,774,029 Y116N probably damaging Het
Pafah1b1 G T 11: 74,683,647 R238S probably damaging Het
Pdzd9 C T 7: 120,668,395 G66R probably damaging Het
Pih1d1 T C 7: 45,159,964 L285P probably damaging Het
Pirb G A 7: 3,717,406 P323S probably damaging Het
Pkd1l1 A G 11: 8,933,685 F396L possibly damaging Het
Pla2g4d G A 2: 120,281,726 T108M probably damaging Het
Plin3 T C 17: 56,279,814 Y411C probably damaging Het
Ppfibp2 T C 7: 107,747,539 probably benign Het
Prrc2c T C 1: 162,682,492 S995G probably damaging Het
Ptf1a T C 2: 19,446,618 I253T probably damaging Het
Ptprb A G 10: 116,362,648 I1684V probably benign Het
Ptprk G A 10: 28,475,178 V556I probably benign Het
Rffl A T 11: 82,818,457 C47S probably damaging Het
Rnf17 C T 14: 56,463,064 Q569* probably null Het
Shprh A G 10: 11,183,868 E1121G probably damaging Het
Slc1a5 A G 7: 16,795,862 D402G probably damaging Het
Slc24a3 G A 2: 145,616,714 probably null Het
Slc2a13 T A 15: 91,350,132 probably null Het
Slc30a8 A T 15: 52,306,559 N61Y possibly damaging Het
Slitrk6 A T 14: 110,751,436 S280T possibly damaging Het
Smad2 G A 18: 76,302,430 A365T probably benign Het
Tcp10b C T 17: 13,080,160 P367S probably damaging Het
Tdp1 A G 12: 99,891,670 N163D probably benign Het
Thbs1 A G 2: 118,118,327 D488G possibly damaging Het
Trappc12 C T 12: 28,746,762 S257N probably damaging Het
Treml1 T C 17: 48,365,599 probably benign Het
Ugt2b36 A G 5: 87,080,885 V234A probably damaging Het
Vmn2r86 T G 10: 130,453,026 H202P probably damaging Het
Vmn2r87 C A 10: 130,472,009 V787F probably damaging Het
Wbp2nl T A 15: 82,306,418 M129K probably damaging Het
Zdhhc15 T C X: 104,544,913 probably null Het
Other mutations in Atn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Janvier UTSW 6 124744956 unclassified probably benign
R0122:Atn1 UTSW 6 124743234 unclassified probably benign
R0227:Atn1 UTSW 6 124746930 unclassified probably benign
R0385:Atn1 UTSW 6 124743371 unclassified probably benign
R0394:Atn1 UTSW 6 124749733 splice site probably benign
R0834:Atn1 UTSW 6 124743225 unclassified probably benign
R1295:Atn1 UTSW 6 124747787 missense unknown
R1296:Atn1 UTSW 6 124747787 missense unknown
R1865:Atn1 UTSW 6 124745296 unclassified probably benign
R1992:Atn1 UTSW 6 124745328 unclassified probably benign
R2268:Atn1 UTSW 6 124746240 unclassified probably benign
R3826:Atn1 UTSW 6 124746219 unclassified probably benign
R4903:Atn1 UTSW 6 124743257 unclassified probably benign
R5601:Atn1 UTSW 6 124743228 critical splice donor site probably null
R5680:Atn1 UTSW 6 124747815 missense possibly damaging 0.92
R6167:Atn1 UTSW 6 124746737 unclassified probably benign
R6314:Atn1 UTSW 6 124747050 unclassified probably benign
R6427:Atn1 UTSW 6 124746176 unclassified probably benign
R6538:Atn1 UTSW 6 124746549 unclassified probably benign
R6606:Atn1 UTSW 6 124744956 unclassified probably benign
R7240:Atn1 UTSW 6 124747898 missense unknown
Z1177:Atn1 UTSW 6 124745035 missense unknown
Posted On2013-10-07