Incidental Mutation 'R0040:Atcay'
ID 15547
Institutional Source Beutler Lab
Gene Symbol Atcay
Ensembl Gene ENSMUSG00000034958
Gene Name ataxia, cerebellar, Cayman type
Synonyms 3322401A10Rik, ji, BNIP-H
MMRRC Submission 038334-MU
Accession Numbers

Genbank: NM_178662; MGI: 2448730
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0040 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 81204508-81230833 bp(-) (GRCm38)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 81210519 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047408] [ENSMUST00000146030]
AlphaFold Q8BHE3
Predicted Effect probably null
Transcript: ENSMUST00000047408
SMART Domains Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958

DomainStartEndE-ValueType
Pfam:BNIP2 59 187 7.7e-47 PFAM
Pfam:CRAL_TRIO_2 188 326 8.6e-35 PFAM
Pfam:CRAL_TRIO 205 318 5.3e-10 PFAM
low complexity region 352 369 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133555
Predicted Effect probably benign
Transcript: ENSMUST00000146030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150782
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 77.3%
  • 10x: 61.4%
  • 20x: 43.8%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants homozygous for a severe allele show progressive impaired coordination and seizures beginning by 10-16 days of age and die by 4 weeks of age. Homozygotes for milder alleles have abnormal gait, slightly diminished body size and reduced male fertility. [provided by MGI curators]
Allele List at MGI
All alleles(6) : Gene trapped(1) Spontaneous(4) Chemically induced(1)
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,645,206 L356R possibly damaging Het
Antxr2 G A 5: 97,938,425 T441I possibly damaging Het
Apcs A G 1: 172,894,456 Y108H probably benign Het
Arpp21 T C 9: 112,147,409 probably benign Het
Bahcc1 A G 11: 120,268,370 D141G probably damaging Het
Cacng5 A T 11: 107,884,510 L11Q probably damaging Het
Ccdc73 T C 2: 104,992,084 S793P probably damaging Het
Ceacam10 A G 7: 24,778,264 Y68C probably damaging Het
Csmd3 G A 15: 47,633,816 P3062S probably damaging Het
Dctn4 A G 18: 60,544,042 N145D possibly damaging Het
Dusp12 A G 1: 170,880,657 Y164H probably damaging Het
Fat1 A G 8: 45,026,404 D2829G probably damaging Het
Fbxl13 T C 5: 21,486,373 T671A probably damaging Het
Fndc3b T A 3: 27,556,117 probably null Het
Gprc6a T A 10: 51,614,984 K819* probably null Het
Gucy2g T A 19: 55,217,302 T709S possibly damaging Het
Gxylt1 A T 15: 93,254,555 probably benign Het
Idh2 A G 7: 80,097,822 S317P probably damaging Het
Ifi30 T C 8: 70,763,776 probably null Het
Ifna16 G A 4: 88,676,630 A76V probably benign Het
Itpr2 C T 6: 146,345,140 E1127K probably damaging Het
Kank4 A G 4: 98,779,220 V330A probably benign Het
Kri1 T C 9: 21,281,105 Y131C probably damaging Het
Krt71 T A 15: 101,738,433 H280L possibly damaging Het
Lox A T 18: 52,520,826 H399Q possibly damaging Het
Mapt A G 11: 104,305,398 M446V probably damaging Het
Mpp7 A T 18: 7,403,180 probably benign Het
Mycbp2 A G 14: 103,224,272 V1447A probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo1b A T 1: 51,781,989 I451N probably damaging Het
Nubp1 A G 16: 10,421,117 T199A probably damaging Het
Olfml2b A G 1: 170,668,751 H317R probably benign Het
Pard3b A T 1: 62,637,820 Y1170F probably damaging Het
Pear1 T C 3: 87,754,358 D536G probably damaging Het
Pira6 A G 7: 4,281,483 noncoding transcript Het
Pkhd1l1 T A 15: 44,573,625 Y3460N probably damaging Het
Plxna2 G T 1: 194,643,896 R46L probably benign Het
Rnf168 T A 16: 32,278,173 probably null Het
Rpl14 C G 9: 120,572,101 F3L possibly damaging Het
Scara5 C T 14: 65,762,717 probably benign Het
Sh3rf1 T A 8: 61,329,252 Y143N possibly damaging Het
Slc4a8 T A 15: 100,789,846 I288N probably damaging Het
Synpr G A 14: 13,563,024 A86T probably damaging Het
Ttc38 C A 15: 85,841,489 F184L probably damaging Het
Wdpcp A G 11: 21,711,638 I303M probably damaging Het
Zc3h12d G A 10: 7,867,914 A483T probably benign Het
Zfp106 C A 2: 120,531,613 K1008N probably damaging Het
Zfp68 G A 5: 138,607,779 T94I probably benign Het
Zfp867 C T 11: 59,463,865 A213T possibly damaging Het
Zkscan3 A T 13: 21,394,920 probably null Het
Other mutations in Atcay
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Atcay APN 10 81210548 missense probably damaging 1.00
IGL03493:Atcay APN 10 81210573 nonsense probably null
wobbley UTSW 10 81220573 intron probably benign
PIT4453001:Atcay UTSW 10 81210549 missense probably damaging 0.99
R0040:Atcay UTSW 10 81210519 splice site probably null
R0113:Atcay UTSW 10 81214720 critical splice donor site probably null
R0441:Atcay UTSW 10 81224460 missense possibly damaging 0.71
R1655:Atcay UTSW 10 81213397 missense probably damaging 1.00
R1709:Atcay UTSW 10 81213231 missense probably damaging 1.00
R1955:Atcay UTSW 10 81214793 missense possibly damaging 0.95
R1968:Atcay UTSW 10 81212478 missense possibly damaging 0.65
R2298:Atcay UTSW 10 81210563 missense probably damaging 1.00
R4472:Atcay UTSW 10 81212527 missense possibly damaging 0.78
R6265:Atcay UTSW 10 81213280 missense possibly damaging 0.94
R6322:Atcay UTSW 10 81213291 missense probably damaging 0.98
R7251:Atcay UTSW 10 81210532 nonsense probably null
R7381:Atcay UTSW 10 81210597 missense possibly damaging 0.61
R8277:Atcay UTSW 10 81214812 missense probably damaging 1.00
R8403:Atcay UTSW 10 81212948 missense probably damaging 1.00
R8859:Atcay UTSW 10 81224464 missense probably benign 0.01
R9542:Atcay UTSW 10 81207852 missense unknown
Posted On 2012-12-21