Incidental Mutation 'R5680:Atn1'
ID 442976
Institutional Source Beutler Lab
Gene Symbol Atn1
Ensembl Gene ENSMUSG00000004263
Gene Name atrophin 1
Synonyms atrophin-1, Atr1, Drpla
MMRRC Submission 043177-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5680 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124719507-124733450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124724778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 152 (S152T)
Ref Sequence ENSEMBL: ENSMUSP00000123560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000146872]
AlphaFold O35126
Predicted Effect unknown
Transcript: ENSMUST00000088357
AA Change: S152T
SMART Domains Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: S152T

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: S152T
SMART Domains Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: S152T

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 possibly damaging
Transcript: ENSMUST00000146872
AA Change: S152T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263
AA Change: S152T

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 182 2.6e-36 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
Abca6 A G 11: 110,127,471 (GRCm39) F362S possibly damaging Het
Adcy1 G A 11: 7,059,020 (GRCm39) V309M probably damaging Het
Agap2 A G 10: 126,923,880 (GRCm39) K752E unknown Het
Ahdc1 T A 4: 132,792,907 (GRCm39) F1383I probably benign Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Bcl11a G A 11: 24,114,264 (GRCm39) V536M possibly damaging Het
Cdc20 T C 4: 118,290,264 (GRCm39) T466A probably damaging Het
Cecr2 C G 6: 120,738,387 (GRCm39) T1010R probably benign Het
Cfap54 A T 10: 92,814,879 (GRCm39) L1318* probably null Het
Colec11 A G 12: 28,644,730 (GRCm39) S249P probably damaging Het
Dnah6 A G 6: 73,126,508 (GRCm39) V1273A probably damaging Het
G3bp2 T C 5: 92,216,219 (GRCm39) R106G probably damaging Het
Ggt7 A T 2: 155,348,353 (GRCm39) C100S probably damaging Het
Grik4 A T 9: 42,540,415 (GRCm39) M255K probably benign Het
Kcnj11 A T 7: 45,748,232 (GRCm39) S364T probably benign Het
Lnpep A T 17: 17,799,444 (GRCm39) Y70* probably null Het
Mark1 T C 1: 184,677,013 (GRCm39) H79R probably damaging Het
Mdfic2 T A 6: 98,225,187 (GRCm39) Q32L probably damaging Het
Myo9b T G 8: 71,743,016 (GRCm39) S26A probably benign Het
Pa2g4 G T 10: 128,395,326 (GRCm39) N306K probably benign Het
Pik3c3 T A 18: 30,410,166 (GRCm39) Y133* probably null Het
Prpf6 G T 2: 181,290,933 (GRCm39) A675S probably damaging Het
Psca A G 15: 74,587,948 (GRCm39) D44G probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Scn10a A G 9: 119,453,202 (GRCm39) L1231P probably damaging Het
Sirpa T C 2: 129,458,172 (GRCm39) S157P probably benign Het
Slc27a2 A T 2: 126,403,530 (GRCm39) R184S probably benign Het
Tagln2 T C 1: 172,333,479 (GRCm39) F111S probably damaging Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tert T A 13: 73,790,470 (GRCm39) probably null Het
Togaram2 G A 17: 71,996,204 (GRCm39) R68K probably benign Het
Trim40 A T 17: 37,199,874 (GRCm39) I68N probably damaging Het
Trpa1 T C 1: 14,946,078 (GRCm39) M1018V probably benign Het
Unc13c A T 9: 73,839,884 (GRCm39) N322K probably damaging Het
Vmn2r75 T A 7: 85,820,779 (GRCm39) T52S probably benign Het
Vmn2r90 T G 17: 17,947,034 (GRCm39) V437G possibly damaging Het
Vps16 C A 2: 130,282,244 (GRCm39) H389N possibly damaging Het
Other mutations in Atn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Atn1 APN 6 124,726,239 (GRCm39) missense probably damaging 0.96
Janvier UTSW 6 124,721,919 (GRCm39) unclassified probably benign
stunt UTSW 6 124,722,601 (GRCm39) critical splice donor site probably null
R0122:Atn1 UTSW 6 124,720,197 (GRCm39) unclassified probably benign
R0227:Atn1 UTSW 6 124,723,893 (GRCm39) unclassified probably benign
R0385:Atn1 UTSW 6 124,720,334 (GRCm39) unclassified probably benign
R0394:Atn1 UTSW 6 124,726,696 (GRCm39) splice site probably benign
R0834:Atn1 UTSW 6 124,720,188 (GRCm39) unclassified probably benign
R1295:Atn1 UTSW 6 124,724,750 (GRCm39) missense unknown
R1296:Atn1 UTSW 6 124,724,750 (GRCm39) missense unknown
R1865:Atn1 UTSW 6 124,722,259 (GRCm39) unclassified probably benign
R1992:Atn1 UTSW 6 124,722,291 (GRCm39) unclassified probably benign
R2268:Atn1 UTSW 6 124,723,203 (GRCm39) unclassified probably benign
R3826:Atn1 UTSW 6 124,723,182 (GRCm39) unclassified probably benign
R4903:Atn1 UTSW 6 124,720,220 (GRCm39) unclassified probably benign
R5601:Atn1 UTSW 6 124,720,191 (GRCm39) critical splice donor site probably null
R6167:Atn1 UTSW 6 124,723,700 (GRCm39) unclassified probably benign
R6314:Atn1 UTSW 6 124,724,013 (GRCm39) unclassified probably benign
R6427:Atn1 UTSW 6 124,723,139 (GRCm39) unclassified probably benign
R6538:Atn1 UTSW 6 124,723,512 (GRCm39) unclassified probably benign
R6606:Atn1 UTSW 6 124,721,919 (GRCm39) unclassified probably benign
R7240:Atn1 UTSW 6 124,724,861 (GRCm39) missense unknown
R8090:Atn1 UTSW 6 124,722,304 (GRCm39) missense unknown
R8476:Atn1 UTSW 6 124,723,416 (GRCm39) unclassified probably benign
R8770:Atn1 UTSW 6 124,722,601 (GRCm39) critical splice donor site probably null
R8924:Atn1 UTSW 6 124,722,211 (GRCm39) missense probably benign 0.39
R8984:Atn1 UTSW 6 124,723,923 (GRCm39) missense unknown
R9018:Atn1 UTSW 6 124,722,661 (GRCm39) missense unknown
R9485:Atn1 UTSW 6 124,722,748 (GRCm39) missense unknown
Z1177:Atn1 UTSW 6 124,721,998 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATTCCCAGGGTAGAGCTGTG -3'
(R):5'- AATCCAGCCATTTTCCCTGACAG -3'

Sequencing Primer
(F):5'- AGGAGCTCCAGGTGGTG -3'
(R):5'- GCAGGAGCTCCCTCGCC -3'
Posted On 2016-11-09