Incidental Mutation 'IGL00976:Aldob'
ID 27342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldob
Ensembl Gene ENSMUSG00000028307
Gene Name aldolase B, fructose-bisphosphate
Synonyms Aldo-2, Aldo2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # IGL00976
Quality Score
Status
Chromosome 4
Chromosomal Location 49535995-49549546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 49541220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 151 (V151L)
Ref Sequence ENSEMBL: ENSMUSP00000029987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029987]
AlphaFold Q91Y97
Predicted Effect probably damaging
Transcript: ENSMUST00000029987
AA Change: V151L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: V151L

DomainStartEndE-ValueType
Pfam:Glycolytic 15 364 1.8e-178 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148415
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the homotetrameric enzyme aldolase B, an isozyme of the class I fructose 1,6-bisphosphate aldolase enzyme. This enzyme catalyzes the conversion of fructose 1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Homozygous knockout mice for this gene exhibit liver damage and death following fructose ingestion. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 102,226,868 (GRCm39) probably benign Het
Cacna1i G A 15: 80,239,846 (GRCm39) M298I probably benign Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 G A 19: 56,785,932 (GRCm39) T701M probably damaging Het
Ccdc190 A T 1: 169,761,309 (GRCm39) H137L probably benign Het
Clhc1 G A 11: 29,511,389 (GRCm39) D278N probably benign Het
Cntnap3 T C 13: 64,942,166 (GRCm39) Y188C probably damaging Het
Dnah1 A C 14: 31,000,095 (GRCm39) V2466G probably damaging Het
Dnah8 A G 17: 31,070,684 (GRCm39) T4457A probably damaging Het
Hectd4 A G 5: 121,487,169 (GRCm39) Q3388R probably benign Het
Hecw1 T A 13: 14,493,557 (GRCm39) D316V probably damaging Het
Il1rap T C 16: 26,517,589 (GRCm39) V263A probably benign Het
Il6 G A 5: 30,219,839 (GRCm39) G72S probably benign Het
Katnal2 T C 18: 77,105,189 (GRCm39) Y86C probably damaging Het
Kdm7a G T 6: 39,121,332 (GRCm39) S874R possibly damaging Het
Mybpc2 T C 7: 44,171,741 (GRCm39) probably null Het
Nphs1 T G 7: 30,160,110 (GRCm39) S130A possibly damaging Het
Ntrk3 C T 7: 78,100,701 (GRCm39) V444I probably benign Het
Numbl T C 7: 26,968,235 (GRCm39) V144A possibly damaging Het
Or8g33 T A 9: 39,337,953 (GRCm39) Y138F probably benign Het
P2rx1 T C 11: 72,903,826 (GRCm39) probably null Het
Pcdhb3 G A 18: 37,436,001 (GRCm39) V656I probably benign Het
Pole A G 5: 110,471,438 (GRCm39) Y1394C probably benign Het
Pramel24 T A 4: 143,453,585 (GRCm39) M231K probably damaging Het
Rbm47 A G 5: 66,184,081 (GRCm39) V174A possibly damaging Het
Rhox4f T C X: 36,786,048 (GRCm39) probably benign Het
Serpina12 T C 12: 103,998,787 (GRCm39) Y317C probably damaging Het
Slc12a5 T A 2: 164,821,224 (GRCm39) I236N probably damaging Het
Slc4a4 G A 5: 89,102,657 (GRCm39) G32R probably damaging Het
Slco1a4 T C 6: 141,752,908 (GRCm39) probably null Het
Sorcs3 A T 19: 48,755,542 (GRCm39) N894I probably damaging Het
Stk38l A G 6: 146,676,900 (GRCm39) E393G probably benign Het
Synpo A G 18: 60,736,491 (GRCm39) I485T possibly damaging Het
Tenm3 T A 8: 48,709,876 (GRCm39) M1687L probably benign Het
Ttc39c T C 18: 12,817,952 (GRCm39) probably benign Het
Unc13d T C 11: 115,961,293 (GRCm39) E378G probably damaging Het
Vmn2r118 T A 17: 55,900,204 (GRCm39) N567Y probably damaging Het
Other mutations in Aldob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Aldob APN 4 49,536,843 (GRCm39) missense probably benign 0.01
IGL00774:Aldob APN 4 49,536,843 (GRCm39) missense probably benign 0.01
IGL02118:Aldob APN 4 49,538,790 (GRCm39) nonsense probably null
IGL02494:Aldob APN 4 49,541,138 (GRCm39) missense possibly damaging 0.92
IGL03001:Aldob APN 4 49,542,844 (GRCm39) missense probably damaging 1.00
despondent UTSW 4 49,539,789 (GRCm39) missense probably damaging 1.00
Saddened UTSW 4 49,538,796 (GRCm39) missense probably benign
P0014:Aldob UTSW 4 49,538,153 (GRCm39) missense probably benign 0.34
R0046:Aldob UTSW 4 49,543,842 (GRCm39) missense possibly damaging 0.83
R0046:Aldob UTSW 4 49,543,842 (GRCm39) missense possibly damaging 0.83
R1770:Aldob UTSW 4 49,536,861 (GRCm39) missense probably damaging 1.00
R1867:Aldob UTSW 4 49,543,835 (GRCm39) missense possibly damaging 0.84
R1975:Aldob UTSW 4 49,538,171 (GRCm39) missense probably benign 0.06
R6519:Aldob UTSW 4 49,543,835 (GRCm39) missense probably damaging 1.00
R6858:Aldob UTSW 4 49,538,796 (GRCm39) missense probably benign
R6897:Aldob UTSW 4 49,539,789 (GRCm39) missense probably damaging 1.00
R7106:Aldob UTSW 4 49,541,258 (GRCm39) missense probably damaging 1.00
R7846:Aldob UTSW 4 49,538,858 (GRCm39) missense probably damaging 1.00
R8195:Aldob UTSW 4 49,538,822 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17