Incidental Mutation 'IGL02531:Sdhc'
ID297308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdhc
Ensembl Gene ENSMUSG00000058076
Gene Namesuccinate dehydrogenase complex, subunit C, integral membrane protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02531
Quality Score
Status
Chromosome1
Chromosomal Location171127165-171150603 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 171136018 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 127 (H127R)
Ref Sequence ENSEMBL: ENSMUSP00000106968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000155798]
Predicted Effect probably damaging
Transcript: ENSMUST00000081560
AA Change: H93R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076
AA Change: H93R

DomainStartEndE-ValueType
Pfam:Sdh_cyt 12 132 2.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111336
AA Change: H127R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076
AA Change: H127R

DomainStartEndE-ValueType
Pfam:Sdh_cyt 46 166 2.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155798
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 one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
PHENOTYPE: Heterozygous compound knockouts (with Sdhb or Sdhb and Sdhd) show reduced increase in blood hemoglobin under hypoxic conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,956,447 H467N unknown Het
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Enpp5 G T 17: 44,080,952 V91F probably damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klf1 T A 8: 84,904,808 F334I probably damaging Het
Klra8 A G 6: 130,118,970 S220P possibly damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rab23 T C 1: 33,738,280 probably benign Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Thoc1 A G 18: 9,970,258 T203A probably benign Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Sdhc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02931:Sdhc APN 1 171143555 splice site probably benign
R0613:Sdhc UTSW 1 171129844 missense probably benign 0.39
R0665:Sdhc UTSW 1 171136057 missense probably damaging 1.00
R0714:Sdhc UTSW 1 171129919 unclassified probably benign
R1480:Sdhc UTSW 1 171145801 missense probably benign 0.01
R4807:Sdhc UTSW 1 171136057 missense probably damaging 1.00
R6174:Sdhc UTSW 1 171138702 nonsense probably null
R6533:Sdhc UTSW 1 171129827 missense possibly damaging 0.68
Posted On2015-04-16