|Institutional Source||Beutler Lab|
|Gene Name||cytochrome b-245, beta polypeptide|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3978 (G1)|
|Chromosomal Location||9435252-9487771 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 9444588 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 425 (Y425C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015484 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015484] [ENSMUST00000164685]|
|Predicted Effect||probably damaging
AA Change: Y425C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y425C
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6880|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of reactive oxygen species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
PHENOTYPE: Nullizygous mice show alterations in acute inflammation, synaptic plasticity, memory, metastatic potential, susceptibility to infection and induced GI injury, inflammatory response to chemical peritonitis, vascular response to Ang II, hypoxia-induced LV remodeling, and L-NAME-caused renal responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cybb||
(F):5'- TCTACTCTCTTGAAGCAAGCC -3'
(R):5'- ATGGGGATTTCCTATGCATAGAGTC -3'
(F):5'- AAGCCTGCCTCTCTGGAGTC -3'
(R):5'- CCTATGCATAGAGTCAGCATAGTGC -3'