|Institutional Source||Beutler Lab|
|Gene Name||succinate dehydrogenase complex, subunit D, integral membrane protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7496 (G1)|
|Chromosomal Location||50596357-50603812 bp(-) (GRCm38)|
|Type of Mutation||makesense|
|DNA Base Change (assembly)||T to C at 50597085 bp|
|Amino Acid Change||Stop codon to Tryptophan at position 160 (*160W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000175 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000175]|
|Predicted Effect||probably null
AA Change: *160W
AA Change: *160W
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous null mice die before E7.5. Heterozygotes show a deficiency in succinate dehydrogenase activity and an abnormal enhancement of resting carotid body activity due to a decrease of potassium conductance and persistent calcium influx into glomus cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sdhd||
(F):5'- ACACAGACTCACGAATGGTC -3'
(R):5'- TGTCTGCATGGCCTCTAAC -3'
(F):5'- GAATGGTCGAACCTAACTCCTC -3'
(R):5'- GGCCTCTAACTGCCCTTGTG -3'