Incidental Mutation 'R7554:Alad'
ID584603
Institutional Source Beutler Lab
Gene Symbol Alad
Ensembl Gene ENSMUSG00000028393
Gene Nameaminolevulinate, delta-, dehydratase
SynonymsLv
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7554 (G1)
Quality Score134.008
Status Not validated
Chromosome4
Chromosomal Location62509169-62519918 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) C to T at 62511786 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000030090] [ENSMUST00000030090] [ENSMUST00000107444] [ENSMUST00000107444] [ENSMUST00000107444]
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 null
Transcript: ENSMUST00000030090
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably null
Transcript: ENSMUST00000030090
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably null
Transcript: ENSMUST00000030090
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393

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

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

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

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,955,485 F185I probably damaging Het
Abi3bp T A 16: 56,618,212 probably null Het
Acot5 T A 12: 84,073,480 L203H probably damaging Het
Alkbh5 C T 11: 60,538,589 T56I probably benign Het
Apbb1ip G A 2: 22,823,546 D138N unknown Het
BC049715 T G 6: 136,840,297 S178R probably damaging Het
C1rb C A 6: 124,580,406 H501N probably damaging Het
Celsr3 A T 9: 108,841,209 M2327L probably benign Het
Cers4 G A 8: 4,515,718 V55I probably benign Het
Cngb3 A T 4: 19,461,753 K545* probably null Het
Crb1 C T 1: 139,337,281 C133Y probably damaging Het
Cryba4 C T 5: 112,251,103 R25Q probably damaging Het
Cyp7b1 C T 3: 18,097,446 G201D probably benign Het
Dcun1d2 A T 8: 13,281,077 C18S probably benign Het
Ddx39b A T 17: 35,247,030 I176F probably benign Het
Dnah7a A G 1: 53,528,698 I1913T possibly damaging Het
Eif2ak1 T C 5: 143,879,478 I198T probably damaging Het
Esp34 G A 17: 38,555,891 M75I probably benign Het
Fam98a G T 17: 75,547,675 C46* probably null Het
Fanci A T 7: 79,412,752 N342I probably damaging Het
Fat1 A T 8: 45,037,165 I3705F possibly damaging Het
Fbxw7 T A 3: 84,976,313 V598D Het
Gas2l2 G A 11: 83,424,410 Q306* probably null Het
Gbp10 G A 5: 105,236,149 probably benign Het
Gigyf2 T A 1: 87,407,570 S378T unknown Het
Hao1 C T 2: 134,530,618 V157M possibly damaging Het
Hdlbp C T 1: 93,437,309 V79M probably damaging Het
Htt G A 5: 34,864,740 R1676H probably damaging Het
Klhl11 A G 11: 100,463,948 V349A probably benign Het
Lama2 T C 10: 27,155,496 E1522G probably damaging Het
Map3k4 T A 17: 12,232,413 K1531M probably damaging Het
Map3k4 T A 17: 12,232,414 K1531* probably null Het
Mapk15 A G 15: 75,995,896 Y120C possibly damaging Het
Mapt C A 11: 104,298,702 P182Q probably benign Het
Mgat4d A C 8: 83,355,773 K117N probably benign Het
Mid1 G T X: 169,986,014 S468I possibly damaging Het
Mmp8 T C 9: 7,563,111 L225P probably damaging Het
Mrps31 A G 8: 22,421,429 K229R possibly damaging Het
Muc5b A T 7: 141,858,776 T1820S unknown Het
Myof T C 19: 37,954,510 T707A probably benign Het
Nckap5l A T 15: 99,429,380 S143T probably benign Het
Notch3 A G 17: 32,122,371 S2136P probably benign Het
Nphp3 A T 9: 104,042,071 D1306V probably damaging Het
Olfr1118 T A 2: 87,309,005 M92K probably damaging Het
Olfr178 T C 16: 58,889,406 I271M probably benign Het
Olfr22-ps1 C T 11: 73,954,804 T38I probably damaging Het
Olfr521 T A 7: 99,768,003 N280K possibly damaging Het
Olfr657 T C 7: 104,636,526 M284T probably benign Het
Olfr664 T C 7: 104,733,867 I166V probably benign Het
Pabpc4l T A 3: 46,447,114 T32S probably benign Het
Papd7 G T 13: 69,500,072 H734Q probably damaging Het
Pcdhb10 A C 18: 37,411,882 T4P probably benign Het
Pkhd1l1 A G 15: 44,495,470 I358M probably damaging Het
Plekhg1 A G 10: 3,963,647 E1178G Het
Prkcd A T 14: 30,609,263 Y52N probably damaging Het
Rasa3 G A 8: 13,595,390 T183M probably damaging Het
Rbm26 G T 14: 105,160,593 A31D unknown Het
Scara3 T C 14: 65,920,850 T570A possibly damaging Het
Sec24d T A 3: 123,355,774 V810D probably damaging Het
Sgcz A T 8: 37,563,272 probably null Het
Stt3b A G 9: 115,280,409 probably null Het
Synpo G T 18: 60,603,333 Q514K probably benign Het
Tagln2 G T 1: 172,505,844 K88N probably damaging Het
Tcaf1 T A 6: 42,677,454 K601N probably benign Het
Tprn T C 2: 25,263,799 F371S probably damaging Het
Ttc26 T A 6: 38,385,500 L70Q probably null Het
Ttn A T 2: 76,841,308 V11304E unknown Het
Ttn C T 2: 76,875,863 W9171* probably null Het
Vmn2r50 A T 7: 10,050,139 M136K probably null Het
Zfp518b G A 5: 38,673,072 P530L probably damaging Het
Zfp941 C A 7: 140,812,057 S463I possibly damaging Het
Other mutations in Alad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Alad APN 4 62514093 missense probably benign 0.00
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
R8015:Alad UTSW 4 62511922 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCTGACGGAGCTACAACC -3'
(R):5'- CAACTATTGAGGCTGTCCGTC -3'

Sequencing Primer
(F):5'- TGACGGAGCTACAACCTGACAG -3'
(R):5'- TGTCCGTCTGCTGAGGAAGAC -3'
Posted On2019-10-17