Incidental Mutation 'IGL00976:Aldob'
ID27342
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: 0.587) question?
Stock #IGL00976
Quality Score
Status
Chromosome4
Chromosomal Location49535995-49549546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 49541220 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 151 (V151L)
Ref Sequence ENSEMBL: ENSMUSP00000029987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029987]
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: 103,183,262 probably benign Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Gm13078 T A 4: 143,727,015 M231K probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Il6 G A 5: 30,014,841 G72S probably benign Het
Katnal2 T C 18: 77,017,493 Y86C probably damaging Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Numbl T C 7: 27,268,810 V144A possibly damaging Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
P2rx1 T C 11: 73,013,000 probably null Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Ttc39c T C 18: 12,684,895 probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging 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
IGL02118:Aldob APN 4 49538790 nonsense probably null
IGL02494:Aldob APN 4 49541138 missense possibly damaging 0.92
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 On2013-04-17