|Institutional Source||Beutler Lab|
|Gene Name||heme oxygenase 1|
|Synonyms||HO1, HO-1, D8Wsu38e, heme oxygenase 1, Hmox, Hsp32|
|Is this an essential gene?||Possibly essential (E-score: 0.613)|
|Stock #||R1559 (G1)|
|Chromosomal Location||75093621-75100589 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 75099949 bp|
|Amino Acid Change||Proline to Leucine at position 267 (P267L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005548 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005548]|
|Predicted Effect||probably damaging
AA Change: P267L
PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: P267L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2456|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit low serum iron levels, increased hepatic and renal iron, oxidative damage, tissue injury, chronic inflammation, reduced neuronal proliferation, and increased sensitivity to hypoxia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hmox1||
(F):5'- AGCTACCTCTTTGGATCAGGGGAC -3'
(R):5'- GAGCCAGGCAAGATTCTCCCTTAC -3'
(F):5'- cagatcctggccttggac -3'
(R):5'- GATTCTCCCTTACAGAGAGAAGGC -3'