Incidental Mutation 'R0714:Sdhc'
ID 85888
Institutional Source Beutler Lab
Gene Symbol Sdhc
Ensembl Gene ENSMUSG00000058076
Gene Name succinate dehydrogenase complex, subunit C, integral membrane protein
Synonyms 0610010E03Rik
MMRRC Submission 038897-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0714 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 170956726-170978209 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 170957488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027959] [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000124157] [ENSMUST00000127394] [ENSMUST00000129651] [ENSMUST00000143623] [ENSMUST00000151340]
AlphaFold Q9CZB0
Predicted Effect probably benign
Transcript: ENSMUST00000027959
SMART Domains Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649

DomainStartEndE-ValueType
low complexity region 122 136 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081560
SMART Domains Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076

DomainStartEndE-ValueType
Pfam:Sdh_cyt 12 132 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111336
SMART Domains Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076

DomainStartEndE-ValueType
Pfam:Sdh_cyt 46 166 2.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124157
SMART Domains Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649

DomainStartEndE-ValueType
low complexity region 150 164 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127394
Predicted Effect probably benign
Transcript: ENSMUST00000129651
SMART Domains Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649

DomainStartEndE-ValueType
low complexity region 166 180 N/A INTRINSIC
low complexity region 217 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143623
Predicted Effect probably benign
Transcript: ENSMUST00000151340
SMART Domains Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649

DomainStartEndE-ValueType
low complexity region 122 136 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156789
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b G A 19: 21,655,973 (GRCm39) R85H probably damaging Het
Adamts13 A G 2: 26,876,997 (GRCm39) probably benign Het
Alb T C 5: 90,610,665 (GRCm39) S82P possibly damaging Het
Arhgap10 G A 8: 78,078,316 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,594,493 (GRCm39) probably null Het
Capn3 A T 2: 120,322,361 (GRCm39) Q359L probably benign Het
Ccdc110 A T 8: 46,396,047 (GRCm39) D646V possibly damaging Het
Ccr2 G A 9: 123,905,966 (GRCm39) G82D probably benign Het
Col6a4 A G 9: 105,895,102 (GRCm39) probably benign Het
Dhx29 T C 13: 113,064,499 (GRCm39) V58A possibly damaging Het
Dhx35 C A 2: 158,686,103 (GRCm39) Q593K probably benign Het
Dmd T C X: 83,353,503 (GRCm39) L2240P probably benign Het
Emc7 A G 2: 112,293,277 (GRCm39) N162S possibly damaging Het
Exoc7 A T 11: 116,184,120 (GRCm39) N483K probably benign Het
Fbxo34 T C 14: 47,767,486 (GRCm39) V282A probably damaging Het
Fndc3c1 A T X: 105,468,972 (GRCm39) Y1087* probably null Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Larp7 T C 3: 127,340,833 (GRCm39) D64G probably damaging Het
Lnx1 A G 5: 74,768,570 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nckipsd C A 9: 108,691,333 (GRCm39) probably benign Het
Ndufab1 A G 7: 121,695,960 (GRCm39) probably benign Het
Nedd4 G A 9: 72,638,728 (GRCm39) probably benign Het
Nrsn2 G A 2: 152,216,042 (GRCm39) R54* probably null Het
Nt5dc3 T A 10: 86,648,238 (GRCm39) V171E probably damaging Het
Nudt8 A G 19: 4,052,023 (GRCm39) *211W probably null Het
Nxph4 A G 10: 127,362,808 (GRCm39) S28P probably damaging Het
Or4f14b A G 2: 111,774,898 (GRCm39) V301A probably benign Het
Or8k17 A C 2: 86,066,498 (GRCm39) L227R probably damaging Het
Or9g4b A G 2: 85,616,743 (GRCm39) D296G probably damaging Het
Pcdhb15 A G 18: 37,607,674 (GRCm39) Y302C probably damaging Het
Pkdrej A G 15: 85,699,712 (GRCm39) S2075P possibly damaging Het
Sidt2 A G 9: 45,858,358 (GRCm39) probably benign Het
Sik2 T C 9: 50,818,736 (GRCm39) M413V probably benign Het
Slc5a4b A G 10: 75,917,341 (GRCm39) F232L probably benign Het
Slx1b A T 7: 126,291,620 (GRCm39) I148N probably damaging Het
Spag17 C G 3: 99,987,472 (GRCm39) S1587R probably damaging Het
St13 T C 15: 81,267,228 (GRCm39) D74G probably benign Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tacc3 T C 5: 33,828,741 (GRCm39) probably benign Het
Tbx22 G A X: 106,728,731 (GRCm39) V421I probably benign Het
Tmc3 G A 7: 83,265,969 (GRCm39) A705T possibly damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tonsl T C 15: 76,517,921 (GRCm39) probably benign Het
Trpm6 T A 19: 18,815,451 (GRCm39) I1179N possibly damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Utp23 T G 15: 51,745,665 (GRCm39) V55G possibly damaging Het
Vps11 A G 9: 44,270,953 (GRCm39) V143A possibly damaging Het
Vps50 G T 6: 3,571,105 (GRCm39) V618F probably benign Het
Other mutations in Sdhc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Sdhc APN 1 170,963,587 (GRCm39) missense probably damaging 1.00
IGL02931:Sdhc APN 1 170,971,124 (GRCm39) splice site probably benign
R0613:Sdhc UTSW 1 170,957,413 (GRCm39) missense probably benign 0.39
R0665:Sdhc UTSW 1 170,963,626 (GRCm39) missense probably damaging 1.00
R1480:Sdhc UTSW 1 170,973,370 (GRCm39) missense probably benign 0.01
R4807:Sdhc UTSW 1 170,963,626 (GRCm39) missense probably damaging 1.00
R6174:Sdhc UTSW 1 170,966,271 (GRCm39) nonsense probably null
R6533:Sdhc UTSW 1 170,957,396 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TAAGCCGCTCTACTGCACTCCAAG -3'
(R):5'- TGAAGAGCAGTCACCCATCAGTACC -3'

Sequencing Primer
(F):5'- TACTGCACTCCAAGGGGATTG -3'
(R):5'- CATCAGTACCACATGAGATGACTTG -3'
Posted On 2013-11-18