Incidental Mutation 'IGL00964:Alad'
ID27312
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? Essential (E-score: 1.000) question?
Stock #IGL00964
Quality Score
Status
Chromosome4
Chromosomal Location62509169-62519918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62514093 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 32 (I32V)
Ref Sequence ENSEMBL: ENSMUSP00000103068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000107444]
Predicted Effect probably benign
Transcript: ENSMUST00000030090
AA Change: I32V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393
AA Change: I32V

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107444
AA Change: I32V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393
AA Change: I32V

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,360,186 *197C probably null Het
4930432K21Rik T C 8: 84,166,714 I170T probably benign Het
Acsl6 A G 11: 54,325,646 Y213C probably damaging Het
Agt T C 8: 124,557,895 probably benign Het
Aifm3 A G 16: 17,500,364 D144G probably damaging Het
Astn2 T A 4: 66,185,187 M330L unknown Het
AU040320 T A 4: 126,854,406 C1029* probably null Het
Brca2 T A 5: 150,532,310 I172N probably damaging Het
Cdk5rap3 A G 11: 96,909,939 probably null Het
Dusp26 G T 8: 31,094,108 R81L probably benign Het
Dync2h1 T C 9: 7,174,881 probably benign Het
Ehd4 A G 2: 120,127,682 C141R probably benign Het
Ftsj3 G T 11: 106,253,115 A261D probably benign Het
Gm14085 A T 2: 122,517,046 Q229H probably damaging Het
Gm5431 G A 11: 48,889,267 T554I probably damaging Het
Hyls1 A G 9: 35,562,112 probably benign Het
Ifi213 T A 1: 173,593,952 T124S possibly damaging Het
Ints10 T A 8: 68,811,986 I457N probably damaging Het
Klk1b1 T G 7: 43,971,169 S228A possibly damaging Het
Lpar2 T C 8: 69,826,512 S319P probably benign Het
Lsr T C 7: 30,971,996 N104S probably damaging Het
Mybpc1 T A 10: 88,555,742 probably null Het
Nalcn T A 14: 123,295,384 probably benign Het
Ovol2 G A 2: 144,305,679 A217V probably damaging Het
Pcdh12 T A 18: 38,282,731 Q447L probably benign Het
Pdgfra T C 5: 75,175,065 I453T probably damaging Het
Ptprd C T 4: 75,998,556 W1037* probably null Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Rev3l T C 10: 39,864,806 I2995T probably benign Het
Slamf6 T A 1: 171,917,780 C25S probably null Het
Sorbs2 A C 8: 45,795,677 N520T probably damaging Het
Spr-ps1 C A 6: 85,155,034 noncoding transcript Het
Stx4a A G 7: 127,842,726 Q92R probably benign Het
Tab2 A C 10: 7,910,073 V638G probably benign Het
Trim41 C A 11: 48,812,363 R79S possibly damaging Het
Ttll5 A G 12: 85,849,283 Y135C possibly damaging Het
Zan T C 5: 137,405,941 probably benign Het
Zdhhc14 T A 17: 5,712,481 L220Q probably damaging Het
Other mutations in Alad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03358:Alad APN 4 62510607 splice site probably benign
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 On2013-04-17