|Institutional Source||Beutler Lab|
|Gene Name||cytochrome c, somatic|
|Is this an essential gene?||Not available|
|Stock #||R7331 (G1)|
|Chromosomal Location||50562563-50566538 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 50565552 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 37 (F37L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000124523 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000161401]|
|Predicted Effect||probably benign
AA Change: F37L
PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
AA Change: F37L
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted mutation die at midgestation. By E8.5, homozygous null embryos exhibit a strikingly reduced size and are developmentally retarded. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cycs||
(F):5'- TCCAAATACTCCATCAGGGTATCC -3'
(R):5'- CTGCCTGGTGTTAAGAGGAC -3'
(F):5'- GGTATCCTCTCCCCAGGTGATG -3'
(R):5'- CTGCCTGGTGTTAAGAGGACATAAG -3'