Incidental Mutation 'R7251:Atcay'
ID 563934
Institutional Source Beutler Lab
Gene Symbol Atcay
Ensembl Gene ENSMUSG00000034958
Gene Name ataxia, cerebellar, Cayman type
Synonyms 3322401A10Rik, BNIP-H, ji
MMRRC Submission 045313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R7251 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81040342-81066667 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 81046366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 319 (C319*)
Ref Sequence ENSEMBL: ENSMUSP00000036721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047408] [ENSMUST00000146030]
AlphaFold Q8BHE3
Predicted Effect probably null
Transcript: ENSMUST00000047408
AA Change: C319*
SMART Domains Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: C319*

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 probably benign
Transcript: ENSMUST00000146030
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adamts19 A T 18: 58,970,974 (GRCm39) D186V probably damaging Het
Agrn T C 4: 156,259,063 (GRCm39) D884G probably damaging Het
Akr1c6 T A 13: 4,497,019 (GRCm39) C154S probably damaging Het
Apob T C 12: 8,057,037 (GRCm39) Y1840H probably damaging Het
Arfgef1 T C 1: 10,269,200 (GRCm39) E399G possibly damaging Het
Arg2 G A 12: 79,197,572 (GRCm39) G197S probably damaging Het
Arhgap32 T C 9: 32,119,481 (GRCm39) V308A probably damaging Het
Bend4 C G 5: 67,584,876 (GRCm39) R16P unknown Het
Braf A G 6: 39,654,504 (GRCm39) probably null Het
Camsap1 T C 2: 25,828,898 (GRCm39) E942G probably damaging Het
Cdpf1 C T 15: 85,693,494 (GRCm39) G11D probably damaging Het
Cgn T C 3: 94,683,509 (GRCm39) E382G possibly damaging Het
Cndp1 T A 18: 84,640,322 (GRCm39) E294D probably benign Het
Cnn1 T A 9: 22,019,513 (GRCm39) Y294N unknown Het
Cyp2ab1 A G 16: 20,134,646 (GRCm39) F104S possibly damaging Het
Cyp2t4 G A 7: 26,857,144 (GRCm39) V336M possibly damaging Het
D430041D05Rik T A 2: 104,051,511 (GRCm39) D782V probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dgkb T C 12: 38,031,985 (GRCm39) S16P possibly damaging Het
Dll4 T C 2: 119,162,773 (GRCm39) C465R probably damaging Het
Dsp A G 13: 38,377,524 (GRCm39) I1770V probably benign Het
Fbxw11 A G 11: 32,681,370 (GRCm39) N250S probably benign Het
Fsip2 G A 2: 82,809,425 (GRCm39) V1915M possibly damaging Het
Greb1l G A 18: 10,515,319 (GRCm39) V704M probably damaging Het
Hgf T A 5: 16,798,942 (GRCm39) N323K possibly damaging Het
Hhatl A T 9: 121,614,116 (GRCm39) probably null Het
Hip1r T C 5: 124,132,813 (GRCm39) S204P probably damaging Het
Igsf10 T A 3: 59,226,875 (GRCm39) N2266I probably damaging Het
Krtap15-1 A G 16: 88,625,982 (GRCm39) probably null Het
Lrp1 T C 10: 127,408,423 (GRCm39) D1751G probably damaging Het
Madd A T 2: 90,992,521 (GRCm39) D1050E probably benign Het
Man1c1 C T 4: 134,308,147 (GRCm39) G323R probably damaging Het
Mgll A G 6: 88,800,357 (GRCm39) E252G probably benign Het
Muc2 A G 7: 141,278,965 (GRCm39) N145S possibly damaging Het
Ncoa2 C T 1: 13,218,599 (GRCm39) S1410N probably benign Het
Nek10 A G 14: 14,853,965 (GRCm38) T384A probably benign Het
Nexn T C 3: 151,952,832 (GRCm39) E310G probably damaging Het
Nol10 T C 12: 17,452,108 (GRCm39) L354P probably damaging Het
Npy4r T C 14: 33,868,872 (GRCm39) R139G probably damaging Het
Nup160 A G 2: 90,530,518 (GRCm39) E463G probably damaging Het
Or14c44 T C 7: 86,062,209 (GRCm39) V213A probably benign Het
Or52a33 C T 7: 103,288,909 (GRCm39) G146D probably damaging Het
Or8j3c G A 2: 86,253,940 (GRCm39) L27F probably benign Het
Pdzd8 A T 19: 59,289,077 (GRCm39) N774K possibly damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pot1a T C 6: 25,752,497 (GRCm39) probably null Het
Ppip5k1 T A 2: 121,178,052 (GRCm39) E283D probably benign Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Raph1 A G 1: 60,529,027 (GRCm39) F745L unknown Het
Rgs19 C T 2: 181,331,541 (GRCm39) V88I probably benign Het
Ripk4 A G 16: 97,544,449 (GRCm39) S733P probably benign Het
Rprd1b T A 2: 157,870,899 (GRCm39) W29R probably damaging Het
Rtkn A G 6: 83,112,943 (GRCm39) N5S probably damaging Het
Sh3bp5l A T 11: 58,232,128 (GRCm39) Q131L probably damaging Het
Slain2 T A 5: 73,131,891 (GRCm39) F461I possibly damaging Het
Stk24 A T 14: 121,545,434 (GRCm39) L108Q probably damaging Het
Syne3 TC T 12: 104,927,830 (GRCm39) probably null Het
Tapbpl A T 6: 125,203,558 (GRCm39) V374E probably damaging Het
Tax1bp1 A G 6: 52,698,341 (GRCm39) I18V possibly damaging Het
Tecta T A 9: 42,299,048 (GRCm39) I233F probably damaging Het
Tet3 A G 6: 83,381,038 (GRCm39) S377P probably benign Het
Uty A G Y: 1,154,262 (GRCm39) S721P probably benign Het
Wnk4 C A 11: 101,155,979 (GRCm39) T412K possibly damaging Het
Zdhhc11 G T 13: 74,140,216 (GRCm39) V336L probably benign Het
Zfp605 T A 5: 110,275,826 (GRCm39) S315T probably damaging Het
Zfp746 A G 6: 48,041,811 (GRCm39) L305P probably damaging Het
Other mutations in Atcay
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Atcay APN 10 81,046,382 (GRCm39) missense probably damaging 1.00
IGL03493:Atcay APN 10 81,046,407 (GRCm39) nonsense probably null
wobbley UTSW 10 81,220,573 (GRCm38) intron probably benign
PIT4453001:Atcay UTSW 10 81,046,383 (GRCm39) missense probably damaging 0.99
R0040:Atcay UTSW 10 81,046,353 (GRCm39) splice site probably null
R0040:Atcay UTSW 10 81,046,353 (GRCm39) splice site probably null
R0113:Atcay UTSW 10 81,050,554 (GRCm39) critical splice donor site probably null
R0441:Atcay UTSW 10 81,060,294 (GRCm39) missense possibly damaging 0.71
R1655:Atcay UTSW 10 81,049,231 (GRCm39) missense probably damaging 1.00
R1709:Atcay UTSW 10 81,049,065 (GRCm39) missense probably damaging 1.00
R1955:Atcay UTSW 10 81,050,627 (GRCm39) missense possibly damaging 0.95
R1968:Atcay UTSW 10 81,048,312 (GRCm39) missense possibly damaging 0.65
R2298:Atcay UTSW 10 81,046,397 (GRCm39) missense probably damaging 1.00
R4472:Atcay UTSW 10 81,048,361 (GRCm39) missense possibly damaging 0.78
R6265:Atcay UTSW 10 81,049,114 (GRCm39) missense possibly damaging 0.94
R6322:Atcay UTSW 10 81,049,125 (GRCm39) missense probably damaging 0.98
R7381:Atcay UTSW 10 81,046,431 (GRCm39) missense possibly damaging 0.61
R8277:Atcay UTSW 10 81,050,646 (GRCm39) missense probably damaging 1.00
R8403:Atcay UTSW 10 81,048,782 (GRCm39) missense probably damaging 1.00
R8859:Atcay UTSW 10 81,060,298 (GRCm39) missense probably benign 0.01
R9542:Atcay UTSW 10 81,043,686 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AACTTCAGAGTGGGGTTGGC -3'
(R):5'- CAATCCATGAGAAAAGTCTGGG -3'

Sequencing Primer
(F):5'- TTAGAGTGCAGTTCCCACAG -3'
(R):5'- ATAGTGGGTTCGAGGCCAGC -3'
Posted On 2019-06-26