|Institutional Source||Beutler Lab|
|Gene Name||succinate dehydrogenase complex, subunit B, iron sulfur (Ip)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7255 (G1)|
|Chromosomal Location||140961203-140979193 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 140977418 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 230 (E230G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010007 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010007]|
AA Change: E230G
PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: E230G
|Meta Mutation Damage Score||0.0669|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: The gene is involved in the hypoxia-induced RNA editing pathway in monocytes. Heterozygous compound KOs show reduced increase in blood hemoglobin under hypoxic conditions. Homozygous inactivation of this gene results in complete embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sdhb||
(F):5'- ACATGAAAGGTGCTGACGC -3'
(R):5'- TGGAGTCTGTGACTGAGAGAGC -3'
(F):5'- TCAAAGGCTCATGGACACCTGG -3'
(R):5'- TCTGTGACTGAGAGAGCCATTCC -3'