Incidental Mutation 'IGL02494:Aldob'
ID295786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldob
Ensembl Gene ENSMUSG00000028307
Gene Namealdolase B, fructose-bisphosphate
SynonymsAldo2, Aldo-2
Accession Numbers

NCBI RefSeq: NM_144903.2; MGI:87995

Is this an essential gene? Possibly essential (E-score: 0.648) question?
Stock #IGL02494
Quality Score
Status
Chromosome4
Chromosomal Location49535995-49549546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 49541138 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 178 (C178Y)
Ref Sequence ENSEMBL: ENSMUSP00000029987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029987]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029987
AA Change: C178Y

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: C178Y

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arg2 A G 12: 79,151,923 R242G probably benign Het
Ash1l T A 3: 89,066,218 L2528* probably null Het
Astn2 T A 4: 65,992,348 M468L probably benign Het
Bglap2 A T 3: 88,377,936 C74* probably null Het
Cand1 A G 10: 119,213,617 V408A probably benign Het
Ccdc14 A G 16: 34,723,414 Y714C probably damaging Het
Ccdc88c C T 12: 100,945,475 G707D probably benign Het
Cdk13 G A 13: 17,739,125 R890* probably null Het
Cep192 A G 18: 67,804,383 E61G probably benign Het
Ctdspl T C 9: 119,037,416 L181P probably damaging Het
Dock7 C T 4: 98,989,234 V442M probably benign Het
Dopey1 T C 9: 86,526,818 V1860A probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fscn2 G A 11: 120,362,402 V232M probably benign Het
Gemin5 A T 11: 58,121,757 C1458S probably benign Het
Glrb A G 3: 80,845,232 V408A probably benign Het
Gtse1 C T 15: 85,867,503 P299L probably damaging Het
Hcfc1r1 T A 17: 23,674,585 M46K probably damaging Het
Hdc A G 2: 126,594,121 F610S probably benign Het
Hip1 A T 5: 135,444,791 C224* probably null Het
Hsd17b10 G T X: 152,004,234 A241S probably benign Het
Igsf10 G T 3: 59,328,006 Q1585K probably damaging Het
Kat2b T C 17: 53,653,205 Y514H probably damaging Het
Krt78 T C 15: 101,954,051 I58M probably benign Het
Lcat C A 8: 105,941,939 probably benign Het
Naca G A 10: 128,041,310 probably benign Het
Nbea T C 3: 55,805,351 K2102E probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1272 G A 2: 90,281,951 S208F probably benign Het
Olfr371 C A 8: 85,230,683 L63I possibly damaging Het
Olfr395 A C 11: 73,906,724 I256S possibly damaging Het
Olfr732 A T 14: 50,282,226 V9D probably damaging Het
Patj T A 4: 98,703,987 probably benign Het
Pcdhb17 G A 18: 37,485,294 A46T possibly damaging Het
Phf8 T C X: 151,625,231 V859A probably benign Het
Plec T A 15: 76,176,779 E3054V probably damaging Het
Prr12 C A 7: 45,028,846 K1958N unknown Het
Psmf1 A G 2: 151,741,009 probably null Het
Rsu1 T C 2: 13,217,191 probably null Het
Samm50 T C 15: 84,195,814 V31A probably benign Het
St14 A G 9: 31,108,645 V56A possibly damaging Het
Trpc1 T C 9: 95,708,307 N699S probably damaging Het
Ttn A T 2: 76,743,800 M25583K probably damaging Het
Utrn A G 10: 12,710,054 V993A probably benign Het
Other mutations in Aldob
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Aldob APN 4 49536843 missense probably benign 0.01
IGL00774:Aldob APN 4 49536843 missense probably benign 0.01
IGL00976:Aldob APN 4 49541220 missense probably damaging 1.00
IGL02118:Aldob APN 4 49538790 nonsense probably null
IGL03001:Aldob APN 4 49542844 missense probably damaging 1.00
despondent UTSW 4 49539789 missense probably damaging 1.00
Saddened UTSW 4 49538796 missense probably benign
P0014:Aldob UTSW 4 49538153 missense probably benign 0.34
R0046:Aldob UTSW 4 49543842 missense possibly damaging 0.83
R0046:Aldob UTSW 4 49543842 missense possibly damaging 0.83
R1770:Aldob UTSW 4 49536861 missense probably damaging 1.00
R1867:Aldob UTSW 4 49543835 missense possibly damaging 0.84
R1975:Aldob UTSW 4 49538171 missense probably benign 0.06
R6519:Aldob UTSW 4 49543835 missense probably damaging 1.00
R6858:Aldob UTSW 4 49538796 missense probably benign
R6897:Aldob UTSW 4 49539789 missense probably damaging 1.00
R7106:Aldob UTSW 4 49541258 missense probably damaging 1.00
R7846:Aldob UTSW 4 49538858 missense probably damaging 1.00
R7929:Aldob UTSW 4 49538858 missense probably damaging 1.00
Posted On2015-04-16