|Institutional Source||Beutler Lab|
|Gene Name||succinate dehydrogenase complex, subunit A, flavoprotein (Fp)|
|Synonyms||SDHF, FP, 2310034D06Rik, SDH2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5046 (G1)|
|Chromosomal Location||74322254-74350280 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 74327333 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Serine at position 526 (F526S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022062 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022062]|
AA Change: F526S
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: F526S
|Meta Mutation Damage Score||0.9517|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sdha||
(F):5'- AGCAACATACAGCTGTGGGG -3'
(R):5'- CCAAGGTAAAATGGCATACTTGG -3'
(F):5'- CTGGACAGCAGGCATGGAC -3'
(R):5'- TGGCATACTTGGAAGACTATAATAGG -3'