Incidental Mutation 'R6314:Atn1'
ID 509936
Institutional Source Beutler Lab
Gene Symbol Atn1
Ensembl Gene ENSMUSG00000004263
Gene Name atrophin 1
Synonyms atrophin-1, Atr1, Drpla
MMRRC Submission 044471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6314 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124719507-124733450 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 124724013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: Y407N
SMART Domains Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: Y407N

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: Y407N
SMART Domains Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: Y407N

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 benign
Transcript: ENSMUST00000146872
SMART Domains Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 182 2.6e-36 PFAM
Meta Mutation Damage Score 0.1213 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A C 5: 146,441,702 (GRCm39) E283A possibly damaging Het
Aadacl2 A T 3: 59,924,824 (GRCm39) R130S probably damaging Het
Adam22 A T 5: 8,177,365 (GRCm39) C581* probably null Het
Adss2 T A 1: 177,595,334 (GRCm39) Y402F probably damaging Het
Agfg1 A T 1: 82,836,155 (GRCm39) Q13H probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Armc8 A G 9: 99,417,937 (GRCm39) S74P probably benign Het
Ddx5 T C 11: 106,679,347 (GRCm39) probably benign Het
Depdc1a T A 3: 159,204,051 (GRCm39) H33Q probably damaging Het
Dnmt3l A T 10: 77,895,521 (GRCm39) Y58F probably benign Het
Efemp1 C T 11: 28,864,603 (GRCm39) T219I probably benign Het
Enpp2 T C 15: 54,729,366 (GRCm39) N436D probably damaging Het
Epb41l4a A G 18: 34,007,208 (GRCm39) V261A probably damaging Het
Erap1 A T 13: 74,822,894 (GRCm39) K802N probably damaging Het
Fads2b T C 2: 85,332,520 (GRCm39) N168S probably benign Het
Fcrl6 T A 1: 172,426,186 (GRCm39) probably null Het
Fv1 A T 4: 147,954,156 (GRCm39) probably null Het
Gdpd4 T A 7: 97,623,160 (GRCm39) M257K probably damaging Het
Gorab T C 1: 163,224,658 (GRCm39) S48G probably damaging Het
Gxylt2 A T 6: 100,775,164 (GRCm39) H361L probably damaging Het
Hk1 A G 10: 62,128,223 (GRCm39) Y300H possibly damaging Het
Hk3 T C 13: 55,161,393 (GRCm39) R156G probably benign Het
Hook3 T A 8: 26,578,136 (GRCm39) M118L probably benign Het
Lmnb2 G A 10: 80,745,804 (GRCm39) R92C probably damaging Het
Lsr A G 7: 30,658,024 (GRCm39) L380P probably damaging Het
Mettl16 A T 11: 74,686,832 (GRCm39) R204* probably null Het
Or5h18 A T 16: 58,847,820 (GRCm39) I150K probably benign Het
Or7a37 A G 10: 78,806,179 (GRCm39) H232R probably benign Het
Or7e173 C A 9: 19,938,958 (GRCm39) S92I probably damaging Het
Orc3 C A 4: 34,579,797 (GRCm39) G494C possibly damaging Het
Pcare T G 17: 72,059,452 (GRCm39) Q75P probably benign Het
Pip5k1a G T 3: 94,975,432 (GRCm39) T346K probably damaging Het
Pitx1 A T 13: 55,974,166 (GRCm39) S222T possibly damaging Het
Pm20d1 T C 1: 131,743,754 (GRCm39) V473A possibly damaging Het
Pnpla6 C T 8: 3,571,572 (GRCm39) L168F probably benign Het
Pramel13 T C 4: 144,121,157 (GRCm39) D289G probably damaging Het
Reln C A 5: 22,357,482 (GRCm39) E195* probably null Het
S100a7l2 A T 3: 90,995,683 (GRCm39) V73E possibly damaging Het
Sec24b A T 3: 129,800,894 (GRCm39) probably null Het
Selenbp1 A G 3: 94,844,576 (GRCm39) N78D probably damaging Het
Serpina1d T A 12: 103,730,959 (GRCm39) T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Snap29 T C 16: 17,237,183 (GRCm39) M98T probably benign Het
Son G T 16: 91,457,298 (GRCm39) probably benign Het
Spef1l A C 7: 139,556,402 (GRCm39) L195R possibly damaging Het
Tgfbi A T 13: 56,773,976 (GRCm39) T252S probably benign Het
Thsd7a T C 6: 12,554,996 (GRCm39) N296S possibly damaging Het
Tmem225 C G 9: 40,062,016 (GRCm39) T210S probably benign Het
Tmem245 A T 4: 56,888,592 (GRCm39) V778D possibly damaging Het
Tor4a T C 2: 25,084,794 (GRCm39) R370G possibly damaging Het
Tubgcp3 T C 8: 12,698,625 (GRCm39) H442R probably benign Het
Vmn1r20 A T 6: 57,409,042 (GRCm39) M123L probably benign Het
Zfp622 T C 15: 25,987,067 (GRCm39) V273A probably benign Het
Zhx1 C T 15: 57,917,398 (GRCm39) V283I probably benign 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
R5680:Atn1 UTSW 6 124,724,778 (GRCm39) missense possibly damaging 0.92
R6167:Atn1 UTSW 6 124,723,700 (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'- TCTCTAGAGGGTGAGGATACGC -3'
(R):5'- CATGAGTGGACTTCCTCCTG -3'

Sequencing Primer
(F):5'- TGTAGATTGACCCCCAGTAGG -3'
(R):5'- TTCCTCCTGGCCCAGAGAAG -3'
Posted On 2018-04-02