Incidental Mutation 'R0046:Aldob'
ID16126
Institutional Source Beutler Lab
Gene Symbol Aldob
Ensembl Gene ENSMUSG00000028307
Gene Namealdolase B, fructose-bisphosphate
SynonymsAldo2, Aldo-2
MMRRC Submission 038340-MU
Accession Numbers

NCBI RefSeq: NM_144903.2; MGI:87995

Is this an essential gene? Possibly essential (E-score: 0.581) question?
Stock #R0046 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location49535995-49549546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49543842 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 47 (I47V)
Ref Sequence ENSEMBL: ENSMUSP00000029987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029987]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029987
AA Change: I47V

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: I47V

DomainStartEndE-ValueType
Pfam:Glycolytic 15 364 1.8e-178 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148415
Meta Mutation Damage Score 0.088 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.2%
  • 10x: 78.3%
  • 20x: 64.0%
Validation Efficiency 98% (86/88)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 K135* probably null Het
Adamts16 A G 13: 70,763,460 S871P probably benign Het
Adcy10 A T 1: 165,539,834 I558F probably damaging Het
Adsl T G 15: 80,962,788 probably null Het
Alkbh8 A G 9: 3,343,247 E46G probably damaging Het
Atp1a4 A T 1: 172,240,097 L533Q probably benign Het
Auts2 T C 5: 131,770,785 noncoding transcript Het
B3gnt3 T C 8: 71,692,923 Y267C probably damaging Het
BC051142 T C 17: 34,460,121 probably null Het
Ccdc39 A G 3: 33,844,152 F15L possibly damaging Het
Cntnap5c T G 17: 58,359,300 D1108E probably benign Het
Col14a1 G A 15: 55,408,963 probably benign Het
Col9a3 G A 2: 180,609,487 A317T possibly damaging Het
Cpt1c A T 7: 44,959,832 probably benign Het
Cpt2 A G 4: 107,904,362 probably null Het
Crebrf T A 17: 26,763,334 L565M probably damaging Het
Dmxl1 T A 18: 49,878,082 V1102E probably benign Het
Dock4 G A 12: 40,737,360 probably benign Het
Dpp3 G T 19: 4,914,643 N545K probably damaging Het
Elmo2 T A 2: 165,298,726 N275I probably damaging Het
Farp1 A G 14: 121,255,513 K509R probably benign Het
Flg T A 3: 93,277,721 probably benign Het
Gas2l2 A T 11: 83,421,910 W859R probably damaging Het
Gatm T C 2: 122,600,744 D254G probably damaging Het
Gjd4 T A 18: 9,280,998 I27F probably damaging Het
Gm19410 A G 8: 35,802,645 E1148G probably benign Het
Haus5 C T 7: 30,654,180 V591I probably benign Het
Kcnab3 G A 11: 69,330,227 probably null Het
Limk1 T C 5: 134,672,761 Y96C probably damaging Het
Lrp2bp T A 8: 46,013,155 Y100* probably null Het
Ly75 A T 2: 60,339,457 probably benign Het
Mamstr T G 7: 45,641,770 probably benign Het
Man1a A G 10: 53,919,187 Y657H probably damaging Het
Marf1 G A 16: 14,111,727 P1672S possibly damaging Het
Mboat7 T C 7: 3,683,818 Y341C probably damaging Het
Nhsl1 A T 10: 18,525,669 N881I probably damaging Het
Nox3 T C 17: 3,682,961 Y225C probably benign Het
Olfr1214 C T 2: 88,987,349 M284I probably benign Het
Olfr1260 C T 2: 89,978,507 T243I probably damaging Het
Pclo C T 5: 14,540,479 T931M unknown Het
Pfas G T 11: 68,990,467 R1025S probably benign Het
Prg4 T C 1: 150,456,086 T279A possibly damaging Het
Psma1 A T 7: 114,267,205 probably benign Het
Rab11fip1 A G 8: 27,153,121 L550P probably damaging Het
Rgs12 T A 5: 34,965,320 I149N probably damaging Het
Rmnd5a T C 6: 71,399,231 H195R probably damaging Het
Rnf17 T C 14: 56,471,373 L750P probably damaging Het
Rtcb T C 10: 85,957,656 N18D probably benign Het
Seh1l T C 18: 67,792,016 probably null Het
Sptbn2 T C 19: 4,745,377 probably benign Het
Stag3 C T 5: 138,283,023 probably benign Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Taok3 C T 5: 117,272,229 Q829* probably null Het
Ttn A G 2: 76,951,542 probably benign Het
Unc79 A G 12: 103,125,681 E1756G probably damaging Het
Usp35 A T 7: 97,313,597 probably null Het
Zbtb40 A G 4: 136,987,278 C1067R 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
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
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
Posted On2013-01-08