Incidental Mutation 'R6314:Atn1'
Institutional Source Beutler Lab
Gene Symbol Atn1
Ensembl Gene ENSMUSG00000004263
Gene Nameatrophin 1
Synonymsatrophin-1, Drpla, Atr1
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6314 (G1)
Quality Score225.009
Status Validated
Chromosomal Location124742544-124756524 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 124747050 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000146872]
Predicted Effect unknown
Transcript: ENSMUST00000088357
AA Change: Y407N
SMART Domains Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: Y407N

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

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

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
4833423E24Rik T C 2: 85,502,176 N168S probably benign Het
4930449I24Rik A C 5: 146,504,892 E283A possibly damaging Het
6430531B16Rik A C 7: 139,976,489 L195R possibly damaging Het
9130204L05Rik A T 3: 91,088,376 V73E possibly damaging Het
Aadacl2 A T 3: 60,017,403 R130S probably damaging Het
Adam22 A T 5: 8,127,365 C581* probably null Het
Adss T A 1: 177,767,768 Y402F probably damaging Het
Agfg1 A T 1: 82,858,434 Q13H probably damaging Het
Ankdd1a C T 9: 65,508,061 A227T possibly damaging Het
Armc8 A G 9: 99,535,884 S74P probably benign Het
BC027072 T G 17: 71,752,457 Q75P probably benign Het
Ddx5 T C 11: 106,788,521 probably benign Het
Depdc1a T A 3: 159,498,414 H33Q probably damaging Het
Dnmt3l A T 10: 78,059,687 Y58F probably benign Het
Efemp1 C T 11: 28,914,603 T219I probably benign Het
Enpp2 T C 15: 54,865,970 N436D probably damaging Het
Epb41l4a A G 18: 33,874,155 V261A probably damaging Het
Erap1 A T 13: 74,674,775 K802N probably damaging Het
Fcrl6 T A 1: 172,598,619 probably null Het
Fv1 A T 4: 147,869,699 probably null Het
Gdpd4 T A 7: 97,973,953 M257K probably damaging Het
Gorab T C 1: 163,397,089 S48G probably damaging Het
Gxylt2 A T 6: 100,798,203 H361L probably damaging Het
Hk1 A G 10: 62,292,444 Y300H possibly damaging Het
Hk3 T C 13: 55,013,580 R156G probably benign Het
Hook3 T A 8: 26,088,108 M118L probably benign Het
Lmnb2 G A 10: 80,909,970 R92C probably damaging Het
Lsr A G 7: 30,958,599 L380P probably damaging Het
Mettl16 A T 11: 74,796,006 R204* probably null Het
Olfr1353 A G 10: 78,970,345 H232R probably benign Het
Olfr186 A T 16: 59,027,457 I150K probably benign Het
Olfr866 C A 9: 20,027,662 S92I probably damaging Het
Orc3 C A 4: 34,579,797 G494C possibly damaging Het
Pip5k1a G T 3: 95,068,121 T346K probably damaging Het
Pitx1 A T 13: 55,826,353 S222T possibly damaging Het
Pm20d1 T C 1: 131,816,016 V473A possibly damaging Het
Pnpla6 C T 8: 3,521,572 L168F probably benign Het
Pramef12 T C 4: 144,394,587 D289G probably damaging Het
Reln C A 5: 22,152,484 E195* probably null Het
Sec24b A T 3: 130,007,245 probably null Het
Selenbp1 A G 3: 94,937,265 N78D probably damaging Het
Serpina1d T A 12: 103,764,700 T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 probably benign Het
Snap29 T C 16: 17,419,319 M98T probably benign Het
Son G T 16: 91,660,410 probably benign Het
Tgfbi A T 13: 56,626,163 T252S probably benign Het
Thsd7a T C 6: 12,554,997 N296S possibly damaging Het
Tmem225 C G 9: 40,150,720 T210S probably benign Het
Tmem245 A T 4: 56,888,592 V778D possibly damaging Het
Tor4a T C 2: 25,194,782 R370G possibly damaging Het
Tubgcp3 T C 8: 12,648,625 H442R probably benign Het
Vmn1r20 A T 6: 57,432,057 M123L probably benign Het
Zfp622 T C 15: 25,986,981 V273A probably benign Het
Zhx1 C T 15: 58,054,002 V283I probably benign Het
Other mutations in Atn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Atn1 APN 6 124749276 missense probably damaging 0.96
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-04-02