Incidental Mutation 'R8546:Cyb5a'
ID 659661
Institutional Source Beutler Lab
Gene Symbol Cyb5a
Ensembl Gene ENSMUSG00000024646
Gene Name cytochrome b5 type A (microsomal)
Synonyms 0610009N12Rik, Cyb5
MMRRC Submission 068511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R8546 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 84869463-84897996 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 84889759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025549] [ENSMUST00000160180] [ENSMUST00000163083]
AlphaFold P56395
Predicted Effect probably benign
Transcript: ENSMUST00000025549
SMART Domains Protein: ENSMUSP00000025549
Gene: ENSMUSG00000024646

DomainStartEndE-ValueType
Cyt-b5 12 85 7.45e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160180
SMART Domains Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646

DomainStartEndE-ValueType
Cyt-b5 12 85 7.45e-28 SMART
transmembrane domain 109 131 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163083
SMART Domains Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646

DomainStartEndE-ValueType
Cyt-b5 1 61 1.66e-2 SMART
transmembrane domain 85 107 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a conditional allele exhibit abnormal pharmacokinetics of xenobiotics following cre-mediated recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,064,139 (GRCm39) S416P probably benign Het
Adcy9 G T 16: 4,236,769 (GRCm39) A214E probably benign Het
Atp11a T A 8: 12,901,083 (GRCm39) W971R probably damaging Het
Axl C T 7: 25,473,588 (GRCm39) R346H probably benign Het
Bltp3b A G 10: 89,630,397 (GRCm39) N399S probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cabin1 T C 10: 75,578,101 (GRCm39) D532G probably damaging Het
Cdh20 A G 1: 104,861,769 (GRCm39) probably benign Het
Cfap97d1 A G 11: 101,881,687 (GRCm39) R77G probably damaging Het
Clca3b T A 3: 144,533,158 (GRCm39) S625C probably damaging Het
Col3a1 G A 1: 45,380,099 (GRCm39) probably benign Het
Ctu2 T C 8: 123,206,102 (GRCm39) L281P probably damaging Het
Cyb5rl T A 4: 106,925,923 (GRCm39) V35D probably damaging Het
Dnah17 A G 11: 118,015,101 (GRCm39) F381S probably benign Het
Eif3a A T 19: 60,755,208 (GRCm39) N991K unknown Het
Eif6 A G 2: 155,668,420 (GRCm39) probably benign Het
Fahd1 T C 17: 25,069,057 (GRCm39) M7V possibly damaging Het
Fam171b A G 2: 83,685,795 (GRCm39) T160A probably damaging Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Fras1 G A 5: 96,857,825 (GRCm39) V2040I probably benign Het
Gjc2 G T 11: 59,067,182 (GRCm39) D433E unknown Het
H2bc13 G A 13: 21,900,042 (GRCm39) T91M probably damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Irx6 A T 8: 93,405,264 (GRCm39) R377S probably benign Het
Khnyn A G 14: 56,123,275 (GRCm39) T10A probably benign Het
Kmt2e A T 5: 23,686,242 (GRCm39) H389L probably damaging Het
Lin7c A G 2: 109,726,716 (GRCm39) I122V probably null Het
Lonp1 G A 17: 56,933,702 (GRCm39) P58S probably benign Het
Loxl4 T C 19: 42,596,027 (GRCm39) H142R probably benign Het
Mcm6 C T 1: 128,273,685 (GRCm39) E382K possibly damaging Het
Mettl2 T A 11: 105,022,399 (GRCm39) N196K probably benign Het
Myo7b T C 18: 32,123,201 (GRCm39) E712G probably benign Het
Ncam2 C T 16: 81,314,419 (GRCm39) T465I probably benign Het
Or7e169 T A 9: 19,757,685 (GRCm39) T77S probably damaging Het
Padi4 T C 4: 140,484,841 (GRCm39) E340G probably damaging Het
Patj T A 4: 98,325,634 (GRCm39) S490R probably benign Het
Pkd1l3 G A 8: 110,393,615 (GRCm39) S1981N possibly damaging Het
Poll T A 19: 45,546,416 (GRCm39) D208V probably damaging Het
Polr3f A G 2: 144,374,284 (GRCm39) D64G probably damaging Het
Prkdc A G 16: 15,480,899 (GRCm39) Y340C probably damaging Het
Prmt6 C T 3: 110,158,034 (GRCm39) R85Q possibly damaging Het
Rgl3 T C 9: 21,899,156 (GRCm39) K140R probably benign Het
Rhoj A G 12: 75,422,124 (GRCm39) T61A probably benign Het
Skor1 T C 9: 63,049,570 (GRCm39) D795G probably damaging Het
Slc28a2b A T 2: 122,353,235 (GRCm39) M472L probably benign Het
Tekt5 A G 16: 10,175,877 (GRCm39) V556A probably benign Het
Tlr1 T A 5: 65,084,374 (GRCm39) I68F probably damaging Het
Tnni3k G T 3: 154,498,444 (GRCm39) N798K probably benign Het
Tuft1 T A 3: 94,529,420 (GRCm39) E227D probably benign Het
Tulp1 T C 17: 28,582,710 (GRCm39) K146R probably benign Het
Usp24 G A 4: 106,259,326 (GRCm39) A1616T probably benign Het
Ythdc1 A T 5: 86,974,607 (GRCm39) K452N possibly damaging Het
Zscan4-ps3 T A 7: 11,346,697 (GRCm39) H244Q possibly damaging Het
Other mutations in Cyb5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Cyb5a APN 18 84,897,648 (GRCm39) missense probably damaging 0.99
IGL01404:Cyb5a APN 18 84,895,985 (GRCm39) missense probably benign 0.13
IGL02152:Cyb5a APN 18 84,891,281 (GRCm39) missense probably benign 0.04
IGL02179:Cyb5a APN 18 84,891,280 (GRCm39) missense probably benign 0.01
IGL02561:Cyb5a APN 18 84,889,637 (GRCm39) missense probably damaging 1.00
IGL02590:Cyb5a APN 18 84,889,732 (GRCm39) missense probably benign 0.01
R0011:Cyb5a UTSW 18 84,895,947 (GRCm39) splice site probably benign
R1122:Cyb5a UTSW 18 84,895,964 (GRCm39) missense possibly damaging 0.62
R1495:Cyb5a UTSW 18 84,869,605 (GRCm39) start codon destroyed probably null 0.99
R1796:Cyb5a UTSW 18 84,869,686 (GRCm39) missense probably benign 0.05
R4402:Cyb5a UTSW 18 84,889,718 (GRCm39) missense possibly damaging 0.87
R5237:Cyb5a UTSW 18 84,889,689 (GRCm39) missense probably damaging 1.00
R6101:Cyb5a UTSW 18 84,889,718 (GRCm39) missense possibly damaging 0.87
R6105:Cyb5a UTSW 18 84,889,718 (GRCm39) missense possibly damaging 0.87
R6771:Cyb5a UTSW 18 84,889,755 (GRCm39) missense probably damaging 1.00
R8736:Cyb5a UTSW 18 84,869,560 (GRCm39) unclassified probably benign
R9365:Cyb5a UTSW 18 84,894,979 (GRCm39) intron probably benign
R9579:Cyb5a UTSW 18 84,891,273 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- TGCAGTGGGCTATCTGATCAG -3'
(R):5'- CCCCGAGTTCAGCAATAACTG -3'

Sequencing Primer
(F):5'- TGGGCTATCTGATCAGATAAGC -3'
(R):5'- AGGTATCCTGTTAAGCACCG -3'
Posted On 2021-01-18