Incidental Mutation 'IGL02231:Atcay'
ID 285678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atcay
Ensembl Gene ENSMUSG00000034958
Gene Name ataxia, cerebellar, Cayman type
Synonyms 3322401A10Rik, ji, BNIP-H
Accession Numbers

Genbank: NM_178662; MGI: 2448730

Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02231
Quality Score
Status
Chromosome 10
Chromosomal Location 81204508-81230833 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81210548 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 314 (V314E)
Ref Sequence ENSEMBL: ENSMUSP00000036721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047408] [ENSMUST00000146030]
AlphaFold Q8BHE3
Predicted Effect probably damaging
Transcript: ENSMUST00000047408
AA Change: V314E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: V314E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,279,896 G1647D probably benign Het
Alcam T A 16: 52,274,050 probably benign Het
Alox15 A C 11: 70,349,556 D266E probably benign Het
Atp8b1 C T 18: 64,550,384 G758R possibly damaging Het
Cacna2d4 T A 6: 119,277,908 probably benign Het
Celsr3 T C 9: 108,842,510 V2429A probably damaging Het
Clspn T G 4: 126,559,228 D11E probably damaging Het
Cnot3 A G 7: 3,658,210 T573A probably benign Het
Cyp2d34 A T 15: 82,618,606 S140T probably benign Het
Edem1 A G 6: 108,828,888 D50G probably benign Het
Emilin3 G A 2: 160,908,515 T438I probably damaging Het
Etfdh C T 3: 79,618,393 V173I probably damaging Het
Fat2 T C 11: 55,281,092 T2932A probably damaging Het
Fcrl1 G A 3: 87,385,162 E154K possibly damaging Het
Fcrl1 A T 3: 87,385,163 E154V probably damaging Het
G3bp1 T A 11: 55,495,447 L244* probably null Het
Itgae A T 11: 73,090,622 K2M possibly damaging Het
Kcnq2 T C 2: 181,081,715 I654V probably benign Het
Ksr2 C T 5: 117,500,776 R82C probably damaging Het
Lrig3 A T 10: 125,997,172 D305V probably damaging Het
Me1 T C 9: 86,611,855 K322E possibly damaging Het
Med12l T A 3: 59,245,882 D1109E probably damaging Het
Mest A G 6: 30,740,773 K73E possibly damaging Het
Nup155 T G 15: 8,144,064 L881R probably damaging Het
Ocln A T 13: 100,541,114 S2T probably damaging Het
Oosp3 T C 19: 11,699,439 L54S probably damaging Het
Pkp3 G A 7: 141,084,238 E443K probably damaging Het
Plk2 T A 13: 110,400,069 C632S probably benign Het
Ptk6 C T 2: 181,197,001 V320I probably damaging Het
Ptprt A T 2: 162,238,060 I273N probably damaging Het
Ptprt A G 2: 162,278,046 probably null Het
Rab3gap2 T C 1: 185,266,898 probably benign Het
Rabgef1 G A 5: 130,211,975 A312T probably damaging Het
Rabl6 T A 2: 25,598,184 K109N probably benign Het
Rbp7 C T 4: 149,454,877 probably null Het
Reg3a C T 6: 78,382,241 H75Y possibly damaging Het
Rnf123 G T 9: 108,066,399 P546T probably benign Het
Rnmt C A 18: 68,314,081 C345* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc14a2 C T 18: 78,209,021 S25N possibly damaging Het
Spata16 G T 3: 26,913,264 G388W probably damaging Het
Speg C T 1: 75,423,387 R2493W probably damaging Het
Thada T A 17: 84,428,697 D970V probably damaging Het
Tmem184c A G 8: 77,604,812 Y103H probably damaging Het
Ttn A T 2: 76,798,096 D12827E probably damaging Het
Utp20 A G 10: 88,791,168 L976S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp936 T A 7: 43,187,485 probably null Het
Other mutations in Atcay
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16