Incidental Mutation 'IGL00770:Aldob'
ID277885
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: 0.535) question?
Stock #IGL00770
Quality Score
Status
Chromosome4
Chromosomal Location49535995-49549546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49536843 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 349 (S349P)
Ref Sequence ENSEMBL: ENSMUSP00000029987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029987]
Predicted Effect probably benign
Transcript: ENSMUST00000029987
AA Change: S349P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: S349P

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Cd2 A T 3: 101,283,029 probably null Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
E2f3 A T 13: 29,918,704 D68E probably damaging Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Fundc1 T A X: 17,558,013 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Map3k2 C T 18: 32,228,239 P584L probably benign Het
Mindy2 T C 9: 70,631,033 D340G probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tmem18 A G 12: 30,588,721 R133G unknown Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Other mutations in Aldob
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R8195:Aldob UTSW 4 49538822 missense probably damaging 1.00
Posted On2015-04-16