Incidental Mutation 'R6027:Hmox1'
ID 480106
Institutional Source Beutler Lab
Gene Symbol Hmox1
Ensembl Gene ENSMUSG00000005413
Gene Name heme oxygenase 1
Synonyms Hmox, HO1, Hsp32, D8Wsu38e, HO-1, heme oxygenase 1
MMRRC Submission 044199-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.569) question?
Stock # R6027 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 75820249-75827217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75823499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 56 (H56N)
Ref Sequence ENSEMBL: ENSMUSP00000005548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005548]
AlphaFold P14901
Predicted Effect probably damaging
Transcript: ENSMUST00000005548
AA Change: H56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005548
Gene: ENSMUSG00000005413
AA Change: H56N

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 11 216 7.3e-85 PFAM
transmembrane domain 266 288 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159631
SMART Domains Protein: ENSMUSP00000135466
Gene: ENSMUSG00000005413

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 3 158 4.2e-66 PFAM
Meta Mutation Damage Score 0.6264 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
MGI Phenotype 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
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,289,003 (GRCm39) V2299A probably benign Het
Acacb A G 5: 114,303,661 (GRCm39) D28G probably benign Het
Adamts6 G A 13: 104,616,043 (GRCm39) G1035D probably damaging Het
Adamts7 A C 9: 90,073,078 (GRCm39) Y755S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank2 T C 3: 126,791,528 (GRCm39) T763A possibly damaging Het
Armc9 G C 1: 86,172,389 (GRCm39) L105F probably damaging Het
Asah2 T C 19: 32,022,351 (GRCm39) N228D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,390,794 (GRCm39) V693G probably damaging Het
Bptf T C 11: 106,965,771 (GRCm39) E1141G probably damaging Het
Col12a1 C T 9: 79,563,860 (GRCm39) probably null Het
Csmd2 G A 4: 128,453,739 (GRCm39) D3475N unknown Het
Dctn5 T C 7: 121,732,564 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,723,580 (GRCm39) K18E probably benign Het
Eci2 A T 13: 35,169,930 (GRCm39) probably null Het
Efcab6 A G 15: 83,851,922 (GRCm39) F319L probably benign Het
Elane A T 10: 79,722,852 (GRCm39) H86L probably damaging Het
Endod1 A T 9: 14,268,893 (GRCm39) Y197* probably null Het
Eno4 A G 19: 58,935,262 (GRCm39) D158G probably damaging Het
Fam217a T A 13: 35,094,977 (GRCm39) T170S possibly damaging Het
Fbxo7 A G 10: 85,883,950 (GRCm39) D517G probably damaging Het
Fkbp3 G T 12: 65,120,692 (GRCm39) A2E possibly damaging Het
Gan A G 8: 117,885,034 (GRCm39) Y54C probably damaging Het
Gdap1l1 T A 2: 163,293,531 (GRCm39) N194K possibly damaging Het
Gnptab A G 10: 88,269,087 (GRCm39) T597A probably damaging Het
Hmcn1 A G 1: 150,678,646 (GRCm39) S492P possibly damaging Het
Kank3 C T 17: 34,037,088 (GRCm39) P131S possibly damaging Het
Kif14 T C 1: 136,410,797 (GRCm39) probably null Het
Kif1a A T 1: 92,953,365 (GRCm39) M1274K probably benign Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Lypla1 T C 1: 4,907,299 (GRCm39) probably null Het
Man2b1 C T 8: 85,823,381 (GRCm39) T905I probably damaging Het
Mmp15 C A 8: 96,098,804 (GRCm39) H544N probably benign Het
Myh7 A T 14: 55,208,259 (GRCm39) N1933K probably benign Het
Ndst4 G T 3: 125,507,025 (GRCm39) A730S probably benign Het
Nmur1 G A 1: 86,315,053 (GRCm39) Q238* probably null Het
Nwd2 C T 5: 63,965,563 (GRCm39) P1716S possibly damaging Het
Or13c7c A G 4: 43,835,842 (GRCm39) V216A probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k38 T G 2: 86,488,148 (GRCm39) Y218S probably damaging Het
P2ry6 T G 7: 100,587,715 (GRCm39) M215L probably benign Het
Parp4 G A 14: 56,866,615 (GRCm39) E1060K probably benign Het
Pde10a A G 17: 9,183,509 (GRCm39) I822V possibly damaging Het
Pira13 T C 7: 3,827,638 (GRCm39) Y173C possibly damaging Het
Pkd1l1 C A 11: 8,866,272 (GRCm39) G528* probably null Het
Ptk2 T A 15: 73,101,762 (GRCm39) Q816L probably damaging Het
Ptprg T C 14: 12,220,613 (GRCm38) F442L possibly damaging Het
Qrfpr A G 3: 36,276,187 (GRCm39) Y68H probably benign Het
Ripk4 A G 16: 97,545,274 (GRCm39) W458R probably damaging Het
Ros1 G T 10: 52,040,064 (GRCm39) T309N possibly damaging Het
Rps27a T C 11: 29,497,808 (GRCm39) probably benign Het
Sarm1 T A 11: 78,374,384 (GRCm39) M577L probably benign Het
Scin T C 12: 40,127,515 (GRCm39) Y425C probably damaging Het
Serpina12 T A 12: 103,997,336 (GRCm39) Y395F probably benign Het
Sfxn2 T A 19: 46,571,291 (GRCm39) Y69* probably null Het
Skint6 T C 4: 112,953,761 (GRCm39) probably null Het
Slc7a1 A C 5: 148,270,774 (GRCm39) I564S possibly damaging Het
Smc6 T A 12: 11,356,179 (GRCm39) Y933N probably benign Het
Sp110 T C 1: 85,505,039 (GRCm39) S438G possibly damaging Het
St8sia4 T A 1: 95,581,399 (GRCm39) R114S probably damaging Het
Trim11 C T 11: 58,869,289 (GRCm39) A75V possibly damaging Het
Tufm T A 7: 126,086,920 (GRCm39) H68Q probably damaging Het
Ythdc2 T A 18: 44,993,503 (GRCm39) D194E probably benign Het
Other mutations in Hmox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0194:Hmox1 UTSW 8 75,823,736 (GRCm39) missense probably damaging 1.00
R0866:Hmox1 UTSW 8 75,823,931 (GRCm39) missense probably benign 0.03
R1469:Hmox1 UTSW 8 75,825,463 (GRCm39) missense probably benign
R1469:Hmox1 UTSW 8 75,825,463 (GRCm39) missense probably benign
R1559:Hmox1 UTSW 8 75,826,577 (GRCm39) missense probably damaging 0.97
R7194:Hmox1 UTSW 8 75,823,551 (GRCm39) missense probably benign 0.01
R7308:Hmox1 UTSW 8 75,823,647 (GRCm39) missense probably damaging 1.00
R8403:Hmox1 UTSW 8 75,823,959 (GRCm39) missense probably damaging 1.00
R8933:Hmox1 UTSW 8 75,823,644 (GRCm39) missense probably benign
R9516:Hmox1 UTSW 8 75,823,544 (GRCm39) missense probably benign 0.29
R9642:Hmox1 UTSW 8 75,823,881 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AGCCGGGCTTAAATGCACAG -3'
(R):5'- GACGCTTTACATAGTGCTGTG -3'

Sequencing Primer
(F):5'- GCCGGGCTTAAATGCACAGTATATAC -3'
(R):5'- TACATAGTGCTGTGTGGCTGGC -3'
Posted On 2017-06-26