Incidental Mutation 'R1495:Cyb5a'
ID 168820
Institutional Source Beutler Lab
Gene Symbol Cyb5a
Ensembl Gene ENSMUSG00000024646
Gene Name cytochrome b5 type A (microsomal)
Synonyms Cyb5, 0610009N12Rik
MMRRC Submission 039546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R1495 (G1)
Quality Score 220
Status Not validated
Chromosome 18
Chromosomal Location 84851338-84880401 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 84851480 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000124480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025549] [ENSMUST00000160180] [ENSMUST00000163083]
AlphaFold P56395
Predicted Effect probably null
Transcript: ENSMUST00000025549
AA Change: M1K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025549
Gene: ENSMUSG00000024646
AA Change: M1K

DomainStartEndE-ValueType
Cyt-b5 12 85 7.45e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159846
Predicted Effect probably null
Transcript: ENSMUST00000160180
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646
AA Change: M1K

DomainStartEndE-ValueType
Cyt-b5 12 85 7.45e-28 SMART
transmembrane domain 109 131 N/A INTRINSIC
Predicted Effect probably benign
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,477,820 N488S probably benign Het
A430105I19Rik T G 2: 118,760,532 K173N probably damaging Het
Acot10 G A 15: 20,665,507 R383C probably damaging Het
Acsm2 A G 7: 119,578,126 D263G probably damaging Het
Adcy2 G T 13: 68,796,535 Q243K probably benign Het
Aggf1 G A 13: 95,356,413 R563* probably null Het
Agt A G 8: 124,559,455 F296S probably damaging Het
Akap14 T C X: 37,163,965 D39G possibly damaging Het
Akt3 T C 1: 177,103,042 M117V probably benign Het
Ankar T C 1: 72,643,291 T1154A probably benign Het
Arvcf T A 16: 18,389,386 L70Q probably damaging Het
Ccdc171 A T 4: 83,681,095 K724* probably null Het
Ccdc91 A G 6: 147,534,172 T85A possibly damaging Het
Cdh3 C T 8: 106,538,997 T224I probably damaging Het
Clstn3 T C 6: 124,449,917 I482V probably benign Het
Cnot9 A G 1: 74,523,600 E176G probably damaging Het
Cntnap4 T G 8: 112,881,763 L1272V possibly damaging Het
Cyp2c23 A G 19: 44,005,508 I473T probably benign Het
Dbil5 T A 11: 76,218,450 M60K probably benign Het
Dgkg A T 16: 22,500,379 L644Q probably damaging Het
Disp3 T C 4: 148,249,825 I1004V probably benign Het
Egf T A 3: 129,713,006 I599F probably damaging Het
Epc2 A G 2: 49,536,663 T145A probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,357,677 probably benign Het
Extl3 A T 14: 65,075,867 V622E probably benign Het
Fam227a C T 15: 79,626,245 V403I probably benign Het
Fat2 T A 11: 55,262,673 D3571V probably benign Het
Fcho2 A G 13: 98,749,850 probably null Het
Fras1 A G 5: 96,528,586 N64S possibly damaging Het
Gabbr1 A G 17: 37,055,940 N352S possibly damaging Het
Gabra1 T C 11: 42,154,944 N113S probably damaging Het
Glg1 T C 8: 111,197,675 Y227C probably damaging Het
Gm14851 T A 8: 21,095,201 Q75L probably benign Het
Gm5141 A T 13: 62,774,270 C362S probably damaging Het
Gprc6a T A 10: 51,628,437 T104S probably benign Het
Jph1 A C 1: 17,091,652 V262G probably benign Het
Kank1 C G 19: 25,410,349 T434R probably damaging Het
Kmt2e A G 5: 23,499,327 S1173G possibly damaging Het
Krt75 G A 15: 101,573,873 probably benign Het
Lyzl1 G T 18: 4,181,192 W77L probably null Het
Nipbl T G 15: 8,351,280 N676T probably benign Het
Obscn C T 11: 59,080,160 S2300N probably damaging Het
Olfr459 T G 6: 41,771,903 Y132S probably damaging Het
Osbpl1a T A 18: 12,758,839 M350L probably benign Het
Pecam1 T C 11: 106,688,856 D460G probably damaging Het
Pik3c2a T A 7: 116,388,065 K540N probably benign Het
Prdm12 T A 2: 31,640,193 I32N probably damaging Het
Prkd1 T C 12: 50,366,352 S679G probably damaging Het
Psen2 C T 1: 180,228,854 A393T probably damaging Het
Ptprh T A 7: 4,580,889 T235S probably benign Het
Ranbp3 C T 17: 56,705,527 P182L probably benign Het
Serpinb7 A T 1: 107,451,660 K266* probably null Het
Sesn3 T C 9: 14,308,521 S69P probably damaging Het
Slc12a6 T C 2: 112,354,190 M818T probably damaging Het
Slc25a53 C A X: 137,015,335 C4F unknown Het
Snx1 T A 9: 66,096,597 L255F probably benign Het
Sptbn2 T G 19: 4,718,976 S46A possibly damaging Het
Taf4 A G 2: 179,933,027 F595S probably damaging Het
Tec A T 5: 72,786,755 V103E probably damaging Het
Tmco5b T C 2: 113,290,791 S147P possibly damaging Het
Uchl5 C T 1: 143,799,937 T93I possibly damaging Het
Usp14 A T 18: 10,004,994 S225T probably benign Het
Usp45 C A 4: 21,797,385 Q238K possibly damaging Het
Vmn1r6 T A 6: 57,003,073 M218K possibly damaging Het
Zfp84 T A 7: 29,777,303 Y473* probably null Het
Zyg11b G A 4: 108,266,213 P186S probably damaging Het
Other mutations in Cyb5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Cyb5a APN 18 84879523 missense probably damaging 0.99
IGL01404:Cyb5a APN 18 84877860 missense probably benign 0.13
IGL02152:Cyb5a APN 18 84873156 missense probably benign 0.04
IGL02179:Cyb5a APN 18 84873155 missense probably benign 0.01
IGL02561:Cyb5a APN 18 84871512 missense probably damaging 1.00
IGL02590:Cyb5a APN 18 84871607 missense probably benign 0.01
R0011:Cyb5a UTSW 18 84877822 splice site probably benign
R1122:Cyb5a UTSW 18 84877839 missense possibly damaging 0.62
R1796:Cyb5a UTSW 18 84851561 missense probably benign 0.05
R4402:Cyb5a UTSW 18 84871593 missense possibly damaging 0.87
R5237:Cyb5a UTSW 18 84871564 missense probably damaging 1.00
R6101:Cyb5a UTSW 18 84871593 missense possibly damaging 0.87
R6105:Cyb5a UTSW 18 84871593 missense possibly damaging 0.87
R6771:Cyb5a UTSW 18 84871630 missense probably damaging 1.00
R8546:Cyb5a UTSW 18 84871634 critical splice donor site probably null
R8736:Cyb5a UTSW 18 84851435 unclassified probably benign
R9365:Cyb5a UTSW 18 84876854 intron probably benign
R9579:Cyb5a UTSW 18 84873148 missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- GATGGAGTTTGACCTGGCCCTAAAG -3'
(R):5'- TTTCCTGTGTCCCATTGGAGCG -3'

Sequencing Primer
(F):5'- TGAAAGGCACCTCTTGTAGC -3'
(R):5'- TTATGATGCAGGATCACCCAGG -3'
Posted On 2014-04-13