Incidental Mutation 'R9535:Alad'
ID 719641
Institutional Source Beutler Lab
Gene Symbol Alad
Ensembl Gene ENSMUSG00000028393
Gene Name aminolevulinate, delta-, dehydratase
Synonyms Lv
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 62427406-62438155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62428777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000030090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000107444]
AlphaFold P10518
PDB Structure Crystal Structure of 5-aminolevulinic acid dehydratase (ALAD) from Mus musculus [X-RAY DIFFRACTION]
Crystal Structure of 5-aminolevulinic acid dehydratase (ALAD) from Mus musculs [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000030090
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393
AA Change: D259G

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107444
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393
AA Change: D259G

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T A 17: 65,141,326 (GRCm39) R65S unknown Het
Abcc6 A G 7: 45,626,687 (GRCm39) S1457P probably damaging Het
Atmin A G 8: 117,683,327 (GRCm39) D329G probably damaging Het
Ccdc121 A G 5: 31,644,954 (GRCm39) I236V probably benign Het
Cdkal1 A G 13: 30,034,007 (GRCm39) F29L probably benign Het
Chrng C T 1: 87,139,202 (GRCm39) P518S probably benign Het
Cpa1 G T 6: 30,641,847 (GRCm39) D224Y probably damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dennd5b T C 6: 148,895,365 (GRCm39) I1222V probably benign Het
Dnm1 A T 2: 32,202,344 (GRCm39) S773T probably benign Het
Glmn A T 5: 107,706,368 (GRCm39) V419E possibly damaging Het
Il18rap T A 1: 40,586,990 (GRCm39) V424E probably benign Het
Kdm6b C A 11: 69,297,276 (GRCm39) G359* probably null Het
Krt84 A G 15: 101,438,016 (GRCm39) probably null Het
Lig4 C A 8: 10,022,325 (GRCm39) C485F probably damaging Het
Mpo T A 11: 87,690,794 (GRCm39) W411R probably damaging Het
Mpv17l A G 16: 13,759,149 (GRCm39) E8G probably benign Het
Mrps34 T C 17: 25,114,451 (GRCm39) Y104H probably benign Het
Muc15 T A 2: 110,562,007 (GRCm39) W148R probably damaging Het
Nrg1 T C 8: 32,439,995 (GRCm39) D134G probably benign Het
Prdm1 T C 10: 44,317,608 (GRCm39) Y405C probably damaging Het
Ptprb T C 10: 116,158,431 (GRCm39) S501P possibly damaging Het
Pwp1 C A 10: 85,723,958 (GRCm39) S486R possibly damaging Het
Rtl1 T C 12: 109,557,171 (GRCm39) E1556G probably damaging Het
Rtl1 T C 12: 109,561,698 (GRCm39) Q47R unknown Het
Siglece A G 7: 43,307,055 (GRCm39) F311L probably benign Het
Slc27a3 A G 3: 90,293,618 (GRCm39) L589P probably damaging Het
Spata31e2 A C 1: 26,721,232 (GRCm39) L1316* probably null Het
Synrg T A 11: 83,881,660 (GRCm39) M332K probably benign Het
Tasor2 T A 13: 3,623,559 (GRCm39) R2130S possibly damaging Het
Tecta T A 9: 42,270,759 (GRCm39) N1183I probably damaging Het
Tmed11 A G 5: 108,926,915 (GRCm39) I119T possibly damaging Het
Ttll3 C T 6: 113,389,834 (GRCm39) R740W probably damaging Het
Usp40 T C 1: 87,935,161 (GRCm39) probably benign Het
Vmn1r236 C T 17: 21,507,418 (GRCm39) H179Y probably benign Het
Wwtr1 T C 3: 57,384,825 (GRCm39) M298V possibly damaging Het
Xrcc4 T A 13: 90,089,118 (GRCm39) M280L probably benign Het
Other mutations in Alad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Alad APN 4 62,432,330 (GRCm39) missense probably benign 0.00
IGL03358:Alad APN 4 62,428,844 (GRCm39) splice site probably benign
R5867:Alad UTSW 4 62,431,203 (GRCm39) missense probably damaging 0.99
R5905:Alad UTSW 4 62,428,359 (GRCm39) missense probably benign 0.06
R6028:Alad UTSW 4 62,428,359 (GRCm39) missense probably benign 0.06
R7554:Alad UTSW 4 62,430,023 (GRCm39) critical splice acceptor site probably null
R8015:Alad UTSW 4 62,430,159 (GRCm39) missense probably damaging 1.00
R9144:Alad UTSW 4 62,430,257 (GRCm39) missense probably damaging 0.99
R9299:Alad UTSW 4 62,429,760 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAAGACTCCTGTGAGCTGCG -3'
(R):5'- GAGACCGACGCTGTTATCAG -3'

Sequencing Primer
(F):5'- CTGTGAGCTGCGGCAGAAG -3'
(R):5'- ATCAGCTGCCTCCTGGTG -3'
Posted On 2022-07-18