Incidental Mutation 'IGL01480:Cyba'
ID88565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyba
Ensembl Gene ENSMUSG00000006519
Gene Namecytochrome b-245, alpha polypeptide
Synonymsb558, p22 phox, cytochrome beta-558
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01480
Quality Score
Status
Chromosome8
Chromosomal Location122424776-122432930 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122424945 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 171 (E171G)
Ref Sequence ENSEMBL: ENSMUSP00000017604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017604] [ENSMUST00000050963] [ENSMUST00000127664] [ENSMUST00000212600]
Predicted Effect probably benign
Transcript: ENSMUST00000017604
AA Change: E171G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017604
Gene: ENSMUSG00000006519
AA Change: E171G

DomainStartEndE-ValueType
Pfam:Cytochrom_B558a 2 190 7.8e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050963
SMART Domains Protein: ENSMUSP00000056008
Gene: ENSMUSG00000046108

DomainStartEndE-ValueType
Pfam:IL17 88 176 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212600
AA Change: E143G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212822
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit defects in balance, absence of otoconia, and an inability of phagocytes to produce bacteria-destroying reactive oxygen species. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,456,865 C379* probably null Het
Ankrd10 A G 8: 11,635,592 V9A probably benign Het
Ankrd13a A T 5: 114,800,818 probably benign Het
Bbs1 T C 19: 4,894,393 K403E probably damaging Het
Cd200r2 A G 16: 44,909,266 I95V probably null Het
Dnah2 T A 11: 69,458,371 M2480L possibly damaging Het
Fxyd7 A T 7: 31,047,374 Y20* probably null Het
Il22ra1 T C 4: 135,744,801 V216A probably benign Het
Mapk10 G A 5: 102,926,152 probably benign Het
Mgat5b C A 11: 116,978,452 T607K probably benign Het
Nov A G 15: 54,752,291 Y284C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr406 A T 11: 74,269,601 I71L possibly damaging Het
Olfr8 T C 10: 78,956,144 probably benign Het
Olfr975 G A 9: 39,949,988 A261V probably benign Het
Optn G A 2: 5,046,018 S184L probably benign Het
Plxna1 A G 6: 89,344,096 L462P possibly damaging Het
Prkca A G 11: 107,986,289 F339L possibly damaging Het
Prkca C T 11: 108,192,201 V73M probably damaging Het
Ptch2 T C 4: 117,114,082 V1062A probably damaging Het
Serpina11 T A 12: 103,982,851 K354* probably null Het
Sf1 T C 19: 6,372,022 probably benign Het
Stam2 A G 2: 52,716,439 S112P probably benign Het
Tlr5 G A 1: 182,973,499 E123K probably benign Het
Tpp1 T C 7: 105,749,053 E301G probably damaging Het
Vmn2r58 T A 7: 41,864,692 I176F probably benign Het
Other mutations in Cyba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Cyba APN 8 122425057 missense probably damaging 1.00
R0145:Cyba UTSW 8 122427238 missense possibly damaging 0.90
R0784:Cyba UTSW 8 122427683 missense probably benign 0.29
R3441:Cyba UTSW 8 122425064 nonsense probably null
R5380:Cyba UTSW 8 122426979 missense possibly damaging 0.89
R7092:Cyba UTSW 8 122427698 missense probably damaging 0.99
Posted On2013-11-18