Incidental Mutation 'R3717:Alas2'
ID 259980
Institutional Source Beutler Lab
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
MMRRC Submission 040709-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3717 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 149330443-149353614 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 149343726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066337] [ENSMUST00000112715] [ENSMUST00000112725] [ENSMUST00000112727]
AlphaFold P08680
Predicted Effect probably benign
Transcript: ENSMUST00000066337
SMART Domains Protein: ENSMUSP00000066040
Gene: ENSMUSG00000025270

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 benign
Transcript: ENSMUST00000112715
SMART Domains Protein: ENSMUSP00000108335
Gene: ENSMUSG00000025270

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 C T 16: 45,552,137 (GRCm39) W245* probably null Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bpifb6 A G 2: 153,750,061 (GRCm39) probably benign Het
Cmtr2 T C 8: 110,948,386 (GRCm39) V232A probably damaging Het
Cmya5 A T 13: 93,228,995 (GRCm39) M2031K probably benign Het
Dnajc10 A G 2: 80,155,089 (GRCm39) probably benign Het
Fetub T A 16: 22,754,443 (GRCm39) C217S probably damaging Het
Fgfr2 G A 7: 129,784,487 (GRCm39) T270M probably damaging Het
Hoxd10 C T 2: 74,524,474 (GRCm39) T262I probably damaging Het
Htt G A 5: 34,968,866 (GRCm39) probably benign Het
Kbtbd3 A T 9: 4,330,598 (GRCm39) H324L probably benign Het
Mink1 T A 11: 70,498,587 (GRCm39) L584Q probably damaging Het
Mtrex A G 13: 113,032,129 (GRCm39) F561S probably damaging Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Nxpe5 T C 5: 138,249,886 (GRCm39) S559P probably damaging Het
Obscn C T 11: 58,973,487 (GRCm39) C2157Y probably damaging Het
Or10q12 A G 19: 13,746,428 (GRCm39) R241G probably damaging Het
Or9k2b T A 10: 130,016,369 (GRCm39) I127F possibly damaging Het
Ptx3 G T 3: 66,132,376 (GRCm39) S299I probably benign Het
Rbbp4 T A 4: 129,222,425 (GRCm39) D89V probably benign Het
Rfx4 A G 10: 84,716,088 (GRCm39) E375G probably damaging Het
Senp7 T A 16: 55,999,420 (GRCm39) probably benign Het
Sh3tc2 T C 18: 62,123,414 (GRCm39) V725A probably benign Het
Skint10 A T 4: 112,603,936 (GRCm39) W84R probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Spata18 A T 5: 73,824,193 (GRCm39) probably null Het
St8sia6 T C 2: 13,661,745 (GRCm39) N362S possibly damaging Het
Tmub2 G T 11: 102,175,887 (GRCm39) probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Ttn T C 2: 76,775,054 (GRCm39) D1996G possibly damaging Het
Ubac1 C T 2: 25,904,953 (GRCm39) R95H probably damaging Het
Vdac1 A G 11: 52,267,473 (GRCm39) probably null Het
Vps51 G A 19: 6,127,198 (GRCm39) probably benign Het
Zfp90 A G 8: 107,150,682 (GRCm39) R132G probably benign Het
Other mutations in Alas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03227:Alas2 APN X 149,340,262 (GRCm39) missense probably damaging 1.00
R3718:Alas2 UTSW X 149,343,726 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GGAAACTGAATTTCTCCTCCCC -3'
(R):5'- TGGAATGAACAGTCTCAAAAGCC -3'

Sequencing Primer
(F):5'- ACAGCAGTTAGGCATCCTTG -3'
(R):5'- AAAGCCACAATTTTTGGTGTCTTGG -3'
Posted On 2015-01-23