Incidental Mutation 'IGL03358:Alad'
ID420026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alad
Ensembl Gene ENSMUSG00000028393
Gene Nameaminolevulinate, delta-, dehydratase
SynonymsLv
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.526) question?
Stock #IGL03358
Quality Score
Status
Chromosome4
Chromosomal Location62509169-62519918 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 62510607 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000107444]
Predicted Effect probably benign
Transcript: ENSMUST00000030090
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107444
SMART Domains Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137448
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,766,546 I272V possibly damaging Het
4930590J08Rik A G 6: 91,928,735 N496D probably damaging Het
Adcy2 C T 13: 68,729,277 G448E probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Appbp2 A T 11: 85,210,034 M193K probably benign Het
Cd300a G A 11: 114,897,797 M204I possibly damaging Het
Cep350 T A 1: 155,928,539 M933L probably benign Het
Cyp2s1 T A 7: 25,808,148 N292I probably damaging Het
Ddx58 T C 4: 40,206,069 E841G possibly damaging Het
Gnl2 T C 4: 125,052,594 I536T probably damaging Het
Ift140 C T 17: 25,087,984 R898C probably damaging Het
Oosp2 A T 19: 11,651,569 L56* probably null Het
Pars2 A T 4: 106,653,042 H7L probably benign Het
Pbx4 T C 8: 69,859,111 S59P probably benign Het
Psg20 G T 7: 18,680,966 H332N probably benign Het
Slc6a13 G A 6: 121,334,536 V384I probably benign Het
Spg21 G A 9: 65,480,416 V164I probably benign Het
Tnc A T 4: 64,017,615 C361* probably null Het
Tsr1 T C 11: 74,903,998 V493A probably benign Het
Ube2u A G 4: 100,547,275 probably benign Het
Vav3 G A 3: 109,647,673 G79E probably damaging Het
Vmn1r81 T G 7: 12,260,305 R125S possibly damaging Het
Vmn2r45 A C 7: 8,471,716 L771R probably damaging Het
Vps54 T A 11: 21,268,799 H119Q probably damaging Het
Other mutations in Alad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Alad APN 4 62514093 missense probably benign 0.00
R5867:Alad UTSW 4 62512966 missense probably damaging 0.99
R5905:Alad UTSW 4 62510122 missense probably benign 0.06
R6028:Alad UTSW 4 62510122 missense probably benign 0.06
R7554:Alad UTSW 4 62511786 critical splice acceptor site probably null
R8015:Alad UTSW 4 62511922 missense probably damaging 1.00
Posted On2016-08-02