Incidental Mutation 'IGL03493:Atcay'
ID490727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atcay
Ensembl Gene ENSMUSG00000034958
Gene Nameataxia, cerebellar, Cayman type
Synonyms3322401A10Rik, ji, BNIP-H
Accession Numbers

Genbank: NM_178662; MGI: 2448730

Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL03493
Quality Score
Status
Chromosome10
Chromosomal Location81204508-81230833 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 81210573 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 306 (E306*)
Ref Sequence ENSEMBL: ENSMUSP00000036721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047408] [ENSMUST00000146030]
Predicted Effect probably null
Transcript: ENSMUST00000047408
AA Change: E306*
SMART Domains Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: E306*

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart1 G A 4: 72,851,647 T253I probably damaging Het
Ampd2 T C 3: 108,075,358 E694G probably damaging Het
Atp13a5 G T 16: 29,297,524 D546E probably benign Het
C2cd2 T C 16: 97,881,661 D125G probably damaging Het
Col23a1 T C 11: 51,564,805 probably null Het
Col9a1 T A 1: 24,221,570 probably benign Het
Cyp4a31 T A 4: 115,570,755 probably null Het
Dnah11 G A 12: 118,012,798 R2708C probably benign Het
Dzip3 T C 16: 48,951,696 I537V probably benign Het
Ezh1 T C 11: 101,203,791 T392A probably benign Het
Hsd17b14 A T 7: 45,556,091 D42V probably damaging Het
Hsf2 A T 10: 57,505,366 I294F probably damaging Het
Ibtk G T 9: 85,718,919 S797R probably benign Het
Kif20b T A 19: 34,959,550 C183* probably null Het
Lnpep G T 17: 17,579,171 A74E probably damaging Het
Map4k1 A T 7: 28,984,151 probably benign Het
Matn1 A G 4: 130,949,998 R173G probably benign Het
Nyap1 A G 5: 137,735,016 I585T probably damaging Het
Olfr1167 G A 2: 88,149,936 P28S probably benign Het
Olfr60 A T 7: 140,345,153 Y279N probably damaging Het
Olfr676 A G 7: 105,035,944 T249A probably damaging Het
Phactr2 A G 10: 13,257,669 V190A probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Rad51c A T 11: 87,397,753 H201Q probably benign Het
Sec63 C A 10: 42,828,941 D730E probably benign Het
Smarcc2 A G 10: 128,461,357 I39M probably damaging Het
Trav2 A G 14: 52,567,288 probably benign Het
Ugt3a2 A G 15: 9,361,483 Y115C probably damaging Het
Zfp955b T G 17: 33,302,545 H329Q probably benign Het
Other mutations in Atcay
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Atcay APN 10 81210548 missense probably damaging 1.00
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
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
Posted On2017-10-20