Incidental Mutation 'R6519:Aldob'
ID 520961
Institutional Source Beutler Lab
Gene Symbol Aldob
Ensembl Gene ENSMUSG00000028307
Gene Name aldolase B, fructose-bisphosphate
Synonyms Aldo-2, Aldo2
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 49535995-49549546 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49543835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 49 (V49E)
Ref Sequence ENSEMBL: ENSMUSP00000029987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029987]
AlphaFold Q91Y97
Predicted Effect probably damaging
Transcript: ENSMUST00000029987
AA Change: V49E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: V49E

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null 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
IGL00976:Aldob APN 4 49,541,220 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGATGCCCACCACAATTCC -3'
(R):5'- TTTCCCAGTCATCAGTCTTAGAGC -3'

Sequencing Primer
(F):5'- ACAATTCCCTTCTCCTTGAGAACG -3'
(R):5'- GTCATCAGTCTTAGAGCAACTACTG -3'
Posted On 2018-06-06