Incidental Mutation 'R3441:Cyba'
ID 267385
Institutional Source Beutler Lab
Gene Symbol Cyba
Ensembl Gene ENSMUSG00000006519
Gene Name cytochrome b-245, alpha polypeptide
Synonyms p22 phox, b558, cytochrome beta-558
MMRRC Submission 040659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3441 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123151515-123159669 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 123151803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 103 (W103*)
Ref Sequence ENSEMBL: ENSMUSP00000148320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017604] [ENSMUST00000050963] [ENSMUST00000127664] [ENSMUST00000212600]
AlphaFold Q61462
Predicted Effect probably null
Transcript: ENSMUST00000017604
AA Change: W131*
SMART Domains Protein: ENSMUSP00000017604
Gene: ENSMUSG00000006519
AA Change: W131*

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 null
Transcript: ENSMUST00000212600
AA Change: W103*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212822
Meta Mutation Damage Score 0.9701 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (34/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,170,759 (GRCm39) probably benign Het
Ap5b1 A G 19: 5,620,011 (GRCm39) H477R probably benign Het
Asz1 A C 6: 18,108,405 (GRCm39) S68A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Btnl6 T C 17: 34,727,292 (GRCm39) K413E probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Clrn3 A C 7: 135,115,854 (GRCm39) Y165* probably null Het
Cp A T 3: 20,029,121 (GRCm39) M533L probably benign Het
Epha4 G T 1: 77,403,333 (GRCm39) N95K possibly damaging Het
Fsip2 A G 2: 82,817,071 (GRCm39) N4268S probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Hyal6 C T 6: 24,734,592 (GRCm39) A175V probably benign Het
Kif1a C T 1: 92,964,575 (GRCm39) D1334N possibly damaging Het
Krtap24-1 T C 16: 88,408,713 (GRCm39) T138A probably damaging Het
Mrc2 A T 11: 105,238,542 (GRCm39) T1230S possibly damaging Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Nav3 A G 10: 109,540,789 (GRCm39) F1947S probably benign Het
Or12e1 A G 2: 87,022,162 (GRCm39) I44V probably benign Het
Or6k2 A T 1: 173,986,746 (GRCm39) M136L probably benign Het
Plxnc1 G A 10: 94,706,872 (GRCm39) T555I probably benign Het
Rab21 CCCGCCGCCGCCGCCGCC CCCGCCGCCGCCGCC 10: 115,151,214 (GRCm39) probably benign Het
Rag2 T A 2: 101,460,645 (GRCm39) F318L probably damaging Het
Scgb2b24 G T 7: 33,438,025 (GRCm39) F27L probably damaging Het
Tchh A T 3: 93,352,414 (GRCm39) D618V unknown Het
Teddm1b A G 1: 153,751,007 (GRCm39) E272G probably benign Het
Tenm4 A T 7: 96,202,723 (GRCm39) M88L probably benign Het
Tfpi2 A T 6: 3,965,504 (GRCm39) Y103N probably benign Het
Tmem98 A G 11: 80,705,125 (GRCm39) N71S probably damaging Het
Vmn1r181 A G 7: 23,684,308 (GRCm39) I258V probably benign Het
Other mutations in Cyba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Cyba APN 8 123,151,684 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGCATTGGGTTAACCTGG -3'
(R):5'- TGTGGGATATGAAATCGATCTGTC -3'

Sequencing Primer
(F):5'- CATTGGGTTAACCTGGGGTCCTC -3'
(R):5'- CTCCCGAGTGCTGGGATTAAAG -3'
Posted On 2015-02-18