Incidental Mutation 'IGL01081:Aldoart2'
ID 52433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldoart2
Ensembl Gene ENSMUSG00000063129
Gene Name aldolase 1 A, retrogene 2
Synonyms Aldo1-ps1, Aldoa-ps1, 4933425L11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # IGL01081
Quality Score
Status
Chromosome 12
Chromosomal Location 55612024-55613681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55612920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 282 (I282L)
Ref Sequence ENSEMBL: ENSMUSP00000079022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080123]
AlphaFold A6ZI47
Predicted Effect probably benign
Transcript: ENSMUST00000080123
AA Change: I282L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079022
Gene: ENSMUSG00000063129
AA Change: I282L

DomainStartEndE-ValueType
Pfam:Glycolytic 15 364 2.3e-191 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Aldoart2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Aldoart2 APN 12 55,612,566 (GRCm39) missense probably damaging 1.00
IGL02306:Aldoart2 APN 12 55,612,489 (GRCm39) missense probably damaging 1.00
R0068:Aldoart2 UTSW 12 55,612,233 (GRCm39) nonsense probably null
R0068:Aldoart2 UTSW 12 55,612,233 (GRCm39) nonsense probably null
R1511:Aldoart2 UTSW 12 55,613,062 (GRCm39) missense probably benign 0.32
R1604:Aldoart2 UTSW 12 55,612,405 (GRCm39) missense probably damaging 1.00
R1622:Aldoart2 UTSW 12 55,612,696 (GRCm39) missense probably benign 0.12
R3729:Aldoart2 UTSW 12 55,613,104 (GRCm39) missense probably damaging 1.00
R4881:Aldoart2 UTSW 12 55,612,899 (GRCm39) missense probably damaging 1.00
R4946:Aldoart2 UTSW 12 55,612,801 (GRCm39) missense probably benign 0.00
R4995:Aldoart2 UTSW 12 55,613,038 (GRCm39) missense probably benign
R5215:Aldoart2 UTSW 12 55,612,204 (GRCm39) missense probably benign 0.25
R5407:Aldoart2 UTSW 12 55,612,981 (GRCm39) missense probably damaging 1.00
R5729:Aldoart2 UTSW 12 55,612,690 (GRCm39) missense probably benign 0.41
R5744:Aldoart2 UTSW 12 55,612,131 (GRCm39) missense possibly damaging 0.52
R7609:Aldoart2 UTSW 12 55,612,833 (GRCm39) missense probably benign 0.30
R8052:Aldoart2 UTSW 12 55,612,536 (GRCm39) missense probably damaging 0.99
R8076:Aldoart2 UTSW 12 55,612,696 (GRCm39) missense probably benign 0.12
Posted On 2013-06-21