Incidental Mutation 'IGL01320:Cyb5a'
ID74023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5a
Ensembl Gene ENSMUSG00000024646
Gene Namecytochrome b5 type A (microsomal)
SynonymsCyb5, 0610009N12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL01320
Quality Score
Status
Chromosome18
Chromosomal Location84851338-84880401 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84879523 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 115 (I115T)
Ref Sequence ENSEMBL: ENSMUSP00000124480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025549] [ENSMUST00000160180] [ENSMUST00000163083]
Predicted Effect probably benign
Transcript: ENSMUST00000025549
SMART Domains Protein: ENSMUSP00000025549
Gene: ENSMUSG00000024646

DomainStartEndE-ValueType
Cyt-b5 12 85 7.45e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159837
Predicted Effect probably damaging
Transcript: ENSMUST00000160180
AA Change: I115T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646
AA Change: I115T

DomainStartEndE-ValueType
Cyt-b5 12 85 7.45e-28 SMART
transmembrane domain 109 131 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163083
AA Change: I91T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646
AA Change: I91T

DomainStartEndE-ValueType
Cyt-b5 1 61 1.66e-2 SMART
transmembrane domain 85 107 N/A INTRINSIC
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly damaging Het
Other mutations in Cyb5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1495:Cyb5a UTSW 18 84851480 start codon destroyed probably null 0.99
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
Posted On2013-10-07