Incidental Mutation 'IGL01480:Cyba'
ID 88565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyba
Ensembl Gene ENSMUSG00000006519
Gene Name cytochrome b-245, alpha polypeptide
Synonyms p22 phox, b558, cytochrome beta-558
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01480
Quality Score
Status
Chromosome 8
Chromosomal Location 123151515-123159669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123151684 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q61462
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: 88,423,635 (GRCm39) C379* probably null Het
Ankrd10 A G 8: 11,685,592 (GRCm39) V9A probably benign Het
Ankrd13a A T 5: 114,938,879 (GRCm39) probably benign Het
Bbs1 T C 19: 4,944,421 (GRCm39) K403E probably damaging Het
Ccn3 A G 15: 54,615,687 (GRCm39) Y284C probably damaging Het
Cd200r2 A G 16: 44,729,629 (GRCm39) I95V probably null Het
Dnah2 T A 11: 69,349,197 (GRCm39) M2480L possibly damaging Het
Fxyd7 A T 7: 30,746,799 (GRCm39) Y20* probably null Het
Il22ra1 T C 4: 135,472,112 (GRCm39) V216A probably benign Het
Mapk10 G A 5: 103,074,018 (GRCm39) probably benign Het
Mgat5b C A 11: 116,869,278 (GRCm39) T607K probably benign Het
Optn G A 2: 5,050,829 (GRCm39) S184L probably benign Het
Or10d5 G A 9: 39,861,284 (GRCm39) A261V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or1p1c A T 11: 74,160,427 (GRCm39) I71L possibly damaging Het
Or7a42 T C 10: 78,791,978 (GRCm39) probably benign Het
Plxna1 A G 6: 89,321,078 (GRCm39) L462P possibly damaging Het
Prkca C T 11: 108,083,027 (GRCm39) V73M probably damaging Het
Prkca A G 11: 107,877,115 (GRCm39) F339L possibly damaging Het
Ptch2 T C 4: 116,971,279 (GRCm39) V1062A probably damaging Het
Serpina11 T A 12: 103,949,110 (GRCm39) K354* probably null Het
Sf1 T C 19: 6,422,052 (GRCm39) probably benign Het
Stam2 A G 2: 52,606,451 (GRCm39) S112P probably benign Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Tpp1 T C 7: 105,398,260 (GRCm39) E301G probably damaging Het
Vmn2r58 T A 7: 41,514,116 (GRCm39) I176F probably benign Het
Other mutations in Cyba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Cyba APN 8 123,151,796 (GRCm39) missense probably damaging 1.00
R0145:Cyba UTSW 8 123,153,977 (GRCm39) missense possibly damaging 0.90
R0784:Cyba UTSW 8 123,154,422 (GRCm39) missense probably benign 0.29
R3441:Cyba UTSW 8 123,151,803 (GRCm39) nonsense probably null
R5380:Cyba UTSW 8 123,153,718 (GRCm39) missense possibly damaging 0.89
R7092:Cyba UTSW 8 123,154,437 (GRCm39) missense probably damaging 0.99
R9044:Cyba UTSW 8 123,151,630 (GRCm39) missense probably benign 0.44
R9481:Cyba UTSW 8 123,154,394 (GRCm39) missense possibly damaging 0.94
Posted On 2013-11-18