Incidental Mutation 'R6174:Sdhc'
ID 488169
Institutional Source Beutler Lab
Gene Symbol Sdhc
Ensembl Gene ENSMUSG00000058076
Gene Name succinate dehydrogenase complex, subunit C, integral membrane protein
Synonyms 0610010E03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6174 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 170956726-170978209 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 170966271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 78 (L78*)
Ref Sequence ENSEMBL: ENSMUSP00000106968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000155798]
AlphaFold Q9CZB0
Predicted Effect probably null
Transcript: ENSMUST00000081560
AA Change: L44*
SMART Domains Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076
AA Change: L44*

DomainStartEndE-ValueType
Pfam:Sdh_cyt 12 132 2.9e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111336
AA Change: L78*
SMART Domains Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076
AA Change: L78*

DomainStartEndE-ValueType
Pfam:Sdh_cyt 46 166 2.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155798
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,919,517 (GRCm39) D725E probably damaging Het
Bco1 T A 8: 117,840,273 (GRCm39) Y264N probably damaging Het
Cd109 G A 9: 78,572,828 (GRCm39) probably null Het
Cdc45 T C 16: 18,613,454 (GRCm39) probably null Het
Ckap5 A G 2: 91,398,564 (GRCm39) E578G probably benign Het
Cracr2b T A 7: 141,044,749 (GRCm39) L193Q probably damaging Het
Dmxl2 G A 9: 54,301,011 (GRCm39) L2367F probably damaging Het
Dop1b T G 16: 93,563,110 (GRCm39) D871E probably damaging Het
Emc1 T C 4: 139,093,842 (GRCm39) Y651H probably benign Het
Enox1 T C 14: 77,745,627 (GRCm39) S41P possibly damaging Het
Fcgbpl1 A G 7: 27,839,384 (GRCm39) Y399C probably damaging Het
Foxa1 A G 12: 57,589,686 (GRCm39) L178P probably damaging Het
Gm57859 C A 11: 113,579,801 (GRCm39) H399N possibly damaging Het
Grm7 T A 6: 111,223,258 (GRCm39) Y433N probably benign Het
Gsta5 T A 9: 78,211,737 (GRCm39) Y166* probably null Het
Gtf3c2 G A 5: 31,315,555 (GRCm39) R813C probably damaging Het
H4c9 T A 13: 22,225,247 (GRCm39) T83S probably benign Het
Hacd3 T C 9: 64,912,909 (GRCm39) E117G probably damaging Het
Hmcn1 G A 1: 150,522,535 (GRCm39) T3455M probably benign Het
Itga6 A G 2: 71,664,053 (GRCm39) I61V possibly damaging Het
Jaml T C 9: 45,000,071 (GRCm39) L81P probably damaging Het
Loxhd1 T C 18: 77,499,874 (GRCm39) F782S probably damaging Het
Lrp1b T C 2: 41,339,275 (GRCm39) H742R probably benign Het
Macrod2 G T 2: 140,242,895 (GRCm39) M1I probably null Het
Mcf2l G A 8: 13,063,849 (GRCm39) W1020* probably null Het
Msgn1 A G 12: 11,258,924 (GRCm39) L9P probably damaging Het
Ngdn C A 14: 55,259,556 (GRCm39) S202R probably benign Het
Notch1 C T 2: 26,375,454 (GRCm39) G50R possibly damaging Het
Or14c46 A T 7: 85,918,009 (GRCm39) D329E probably benign Het
Or1a1b A T 11: 74,097,466 (GRCm39) I192N probably damaging Het
Or2d2b A T 7: 106,705,714 (GRCm39) M118K probably damaging Het
Or5d14 A T 2: 87,880,646 (GRCm39) C107* probably null Het
Osbpl10 A G 9: 114,938,555 (GRCm39) S211G probably benign Het
Pabpc6 G A 17: 9,887,084 (GRCm39) A489V probably benign Het
Pcdhb13 A T 18: 37,576,474 (GRCm39) D284V possibly damaging Het
Pde6c T C 19: 38,128,677 (GRCm39) S214P possibly damaging Het
Pofut1 C T 2: 153,101,536 (GRCm39) H192Y probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Prc1 G A 7: 79,954,544 (GRCm39) S165N probably benign Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Ptpru T C 4: 131,513,065 (GRCm39) I881V probably benign Het
Radil A G 5: 142,472,870 (GRCm39) S847P probably benign Het
Rimklb A G 6: 122,433,371 (GRCm39) S317P probably damaging Het
Skint6 T A 4: 112,696,510 (GRCm39) I1042F possibly damaging Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc29a1 A T 17: 45,900,854 (GRCm39) H71Q probably damaging Het
Slfn14 A T 11: 83,167,429 (GRCm39) D695E probably damaging Het
Spg11 A T 2: 121,917,286 (GRCm39) probably null Het
Srgap2 A G 1: 131,217,354 (GRCm39) V986A probably benign Het
Stab1 A T 14: 30,884,476 (GRCm39) C172* probably null Het
Tigd4 A G 3: 84,502,574 (GRCm39) H497R probably benign Het
Ubn2 G A 6: 38,438,471 (GRCm39) G60D probably damaging Het
Uckl1 C T 2: 181,214,866 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,793,236 (GRCm39) K854N probably benign Het
Vps13d G A 4: 144,701,763 (GRCm39) Q3193* probably null Het
Wdr26 G A 1: 181,019,433 (GRCm39) L315F probably damaging Het
Zc3h8 C A 2: 128,785,775 (GRCm39) E24* probably null Het
Zfp39 A G 11: 58,782,213 (GRCm39) V183A probably benign Het
Zfp608 C A 18: 55,121,616 (GRCm39) 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
R0714:Sdhc UTSW 1 170,957,488 (GRCm39) unclassified probably benign
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
R6533:Sdhc UTSW 1 170,957,396 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- GTCCCAGTACTTACGAGGCAG -3'
(R):5'- GAACAAGTGTGGGCTCCC -3'

Sequencing Primer
(F):5'- CCAGCTTGGTCTACAGAGTGAG -3'
(R):5'- TCCCAAGTCTTATGCAAGGG -3'
Posted On 2017-10-10