Incidental Mutation 'IGL02365:Sdhd'
ID290697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdhd
Ensembl Gene ENSMUSG00000000171
Gene Namesuccinate dehydrogenase complex, subunit D, integral membrane protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02365
Quality Score
Status
Chromosome9
Chromosomal Location50596357-50603812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 50598825 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 84 (Y84N)
Ref Sequence ENSEMBL: ENSMUSP00000000175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000175]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000175
AA Change: Y84N

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000175
Gene: ENSMUSG00000000171
AA Change: Y84N

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:CybS 33 158 7.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933400A11Rik T C X: 169,776,530 N272D probably benign Het
Acyp2 A T 11: 30,649,318 V21E probably damaging Het
Adgrl3 A G 5: 81,512,581 D331G probably damaging Het
Arfgef1 A T 1: 10,199,883 I347N probably benign Het
Bfsp1 T G 2: 143,826,736 E647A probably damaging Het
Bhmt A T 13: 93,617,638 N354K probably benign Het
Brinp3 A T 1: 146,901,122 T436S probably benign Het
Cog7 C A 7: 121,977,736 M66I possibly damaging Het
Csf2rb2 A T 15: 78,287,060 M333K possibly damaging Het
Cyp2u1 A G 3: 131,298,229 V214A probably damaging Het
Dcaf5 A T 12: 80,398,773 H177Q probably benign Het
Dchs1 T C 7: 105,755,188 T2716A probably benign Het
Dsc1 T C 18: 20,108,816 Q156R probably damaging Het
Dspp G T 5: 104,176,061 G357W probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fto T G 8: 91,468,375 S265R probably damaging Het
Gphb5 A G 12: 75,415,817 probably benign Het
Iars T C 13: 49,691,499 V162A probably benign Het
Klk13 A C 7: 43,723,866 K107T possibly damaging Het
Kpna7 T A 5: 144,985,733 D507V possibly damaging Het
Lamb1 A T 12: 31,318,345 E1158V probably damaging Het
Lonp2 A T 8: 86,716,365 D818V possibly damaging Het
Med15 A G 16: 17,671,606 probably benign Het
Olfr470 T A 7: 107,844,912 N274Y probably damaging Het
Olfr810 T C 10: 129,791,535 D18G possibly damaging Het
Olfr965 A T 9: 39,719,674 Y149F possibly damaging Het
Olfr965 G A 9: 39,720,100 S291N probably damaging Het
Plpbp A G 8: 27,045,924 I82V probably benign Het
Ptprcap A G 19: 4,156,268 I117V probably benign Het
Rhox12 T A X: 38,107,881 D88V possibly damaging Het
Rnpc3 A G 3: 113,608,399 S500P probably damaging Het
Sema6d G A 2: 124,656,868 V233I probably benign Het
Vegfb A T 19: 6,985,487 I140N probably benign Het
Vldlr A G 19: 27,245,625 Y732C probably damaging Het
Vmn2r17 T A 5: 109,453,309 F824L probably damaging Het
Xdh A T 17: 73,943,890 N22K probably benign Het
Zc3h11a A C 1: 133,637,413 N249K probably benign Het
Zwilch T A 9: 64,160,924 D203V probably damaging Het
Other mutations in Sdhd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0600:Sdhd UTSW 9 50603764 missense possibly damaging 0.48
R0682:Sdhd UTSW 9 50600605 missense probably benign 0.07
R1776:Sdhd UTSW 9 50597200 missense probably benign 0.23
R7214:Sdhd UTSW 9 50597233 missense possibly damaging 0.87
R7496:Sdhd UTSW 9 50597085 makesense probably null
Posted On2015-04-16