Incidental Mutation 'IGL03227:Alas2'
ID414141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alas2
Ensembl Gene ENSMUSG00000025270
Gene Nameaminolevulinic acid synthase 2, erythroid
Synonyms5-aminolevulinate synthase, ALAS-E, ALASE, ALAS, erythroid-specific ALAS, Alas-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03227
Quality Score
Status
ChromosomeX
Chromosomal Location150547375-150570638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 150557266 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 151 (K151E)
Ref Sequence ENSEMBL: ENSMUSP00000108335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066337] [ENSMUST00000112715] [ENSMUST00000112725] [ENSMUST00000112727]
Predicted Effect probably damaging
Transcript: ENSMUST00000066337
AA Change: K166E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066040
Gene: ENSMUSG00000025270
AA Change: K166E

DomainStartEndE-ValueType
Pfam:Preseq_ALAS 49 100 1.4e-10 PFAM
Pfam:Aminotran_1_2 189 536 5.4e-78 PFAM
Pfam:Aminotran_5 203 367 2.4e-10 PFAM
Pfam:Cys_Met_Meta_PP 226 368 1.6e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112715
AA Change: K151E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108335
Gene: ENSMUSG00000025270
AA Change: K151E

DomainStartEndE-ValueType
Pfam:Preseq_ALAS 1 86 4.7e-30 PFAM
Pfam:Aminotran_1_2 174 521 3e-78 PFAM
Pfam:Aminotran_5 188 352 1.1e-11 PFAM
Pfam:Cys_Met_Meta_PP 212 354 1.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112725
SMART Domains Protein: ENSMUSP00000108345
Gene: ENSMUSG00000025269

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 5 258 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112727
SMART Domains Protein: ENSMUSP00000108347
Gene: ENSMUSG00000025269

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 5 260 6.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134670
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality and severe anemia due to arrest of fetal hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C T 1: 25,547,475 G172E probably damaging Het
Apob A G 12: 8,016,089 T4353A probably benign Het
Arhgef1 C A 7: 24,922,851 D554E probably damaging Het
Atad2b T A 12: 5,006,715 L857Q probably damaging Het
Atp2b4 C A 1: 133,729,707 probably benign Het
Bche C A 3: 73,701,612 K160N probably damaging Het
Bmx A G X: 164,203,196 M537T probably damaging Het
Bysl T C 17: 47,611,092 N27S probably benign Het
Ccdc110 T A 8: 45,941,549 L159H probably damaging Het
Cd34 G A 1: 194,958,463 C212Y probably damaging Het
Erich2 C T 2: 70,512,770 probably benign Het
Fap T A 2: 62,530,763 probably null Het
Fitm2 T C 2: 163,469,532 T254A probably benign Het
Fscn3 T C 6: 28,434,430 S335P probably benign Het
Grk2 C T 19: 4,287,829 E508K probably benign Het
Lbr T C 1: 181,836,055 probably null Het
Lct A T 1: 128,327,689 F205L probably benign Het
Magi3 A T 3: 104,051,119 I550N probably benign Het
Med13 A G 11: 86,327,792 probably benign Het
Msh3 A T 13: 92,285,960 S563T probably damaging Het
Msra A G 14: 64,313,743 V50A probably benign Het
Olfr843 A G 9: 19,249,222 M59T probably damaging Het
Pcdhb13 T A 18: 37,443,658 V363E probably damaging Het
Piezo2 G A 18: 63,124,606 T347M probably damaging Het
Rapgef2 T C 3: 79,092,613 probably benign Het
Rtl9 A C X: 143,099,828 T79P probably benign Het
Slc15a2 A G 16: 36,756,048 probably null Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Smurf1 G T 5: 144,899,182 P123H probably damaging Het
Strn4 A G 7: 16,837,714 T590A possibly damaging Het
Trpm6 T C 19: 18,786,779 Y250H probably benign Het
Trpm6 T C 19: 18,819,119 S780P probably benign Het
Zfp770 A T 2: 114,197,089 C166* probably null Het
Other mutations in Alas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3717:Alas2 UTSW X 150560730 intron probably benign
R3718:Alas2 UTSW X 150560730 intron probably benign
Posted On2016-08-02