Incidental Mutation 'IGL03227:Alas2'
ID 414141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alas2
Ensembl Gene ENSMUSG00000025270
Gene Name aminolevulinic acid synthase 2, erythroid
Synonyms ALASE, Alas-2, ALAS-E, 5-aminolevulinate synthase, ALAS, erythroid-specific ALAS
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03227
Quality Score
Status
Chromosome X
Chromosomal Location 149330443-149353614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149340262 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P08680
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: 25,586,556 (GRCm39) G172E probably damaging Het
Apob A G 12: 8,066,089 (GRCm39) T4353A probably benign Het
Arhgef1 C A 7: 24,622,276 (GRCm39) D554E probably damaging Het
Atad2b T A 12: 5,056,715 (GRCm39) L857Q probably damaging Het
Atp2b4 C A 1: 133,657,445 (GRCm39) probably benign Het
Bche C A 3: 73,608,945 (GRCm39) K160N probably damaging Het
Bmx A G X: 162,986,192 (GRCm39) M537T probably damaging Het
Bysl T C 17: 47,922,017 (GRCm39) N27S probably benign Het
Ccdc110 T A 8: 46,394,586 (GRCm39) L159H probably damaging Het
Cd34 G A 1: 194,640,771 (GRCm39) C212Y probably damaging Het
Erich2 C T 2: 70,343,114 (GRCm39) probably benign Het
Fap T A 2: 62,361,107 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,452 (GRCm39) T254A probably benign Het
Fscn3 T C 6: 28,434,429 (GRCm39) S335P probably benign Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Lbr T C 1: 181,663,620 (GRCm39) probably null Het
Lct A T 1: 128,255,426 (GRCm39) F205L probably benign Het
Magi3 A T 3: 103,958,435 (GRCm39) I550N probably benign Het
Med13 A G 11: 86,218,618 (GRCm39) probably benign Het
Msh3 A T 13: 92,422,468 (GRCm39) S563T probably damaging Het
Msra A G 14: 64,551,192 (GRCm39) V50A probably benign Het
Or7g25 A G 9: 19,160,518 (GRCm39) M59T probably damaging Het
Pcdhb13 T A 18: 37,576,711 (GRCm39) V363E probably damaging Het
Piezo2 G A 18: 63,257,677 (GRCm39) T347M probably damaging Het
Rapgef2 T C 3: 78,999,920 (GRCm39) probably benign Het
Rtl9 A C X: 141,882,824 (GRCm39) T79P probably benign Het
Slc15a2 A G 16: 36,576,410 (GRCm39) probably null Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Smurf1 G T 5: 144,835,992 (GRCm39) P123H probably damaging Het
Strn4 A G 7: 16,571,639 (GRCm39) T590A possibly damaging Het
Trpm6 T C 19: 18,796,483 (GRCm39) S780P probably benign Het
Trpm6 T C 19: 18,764,143 (GRCm39) Y250H probably benign Het
Zfp770 A T 2: 114,027,570 (GRCm39) C166* probably null Het
Other mutations in Alas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3717:Alas2 UTSW X 149,343,726 (GRCm39) intron probably benign
R3718:Alas2 UTSW X 149,343,726 (GRCm39) intron probably benign
Posted On 2016-08-02