Incidental Mutation 'R0682:Sdhd'
ID 61018
Institutional Source Beutler Lab
Gene Symbol Sdhd
Ensembl Gene ENSMUSG00000000171
Gene Name succinate dehydrogenase complex, subunit D, integral membrane protein
Synonyms 3110001M13Rik
MMRRC Submission 038867-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0682 (G1)
Quality Score 145
Status Not validated
Chromosome 9
Chromosomal Location 50507657-50515112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50511905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 38 (Q38K)
Ref Sequence ENSEMBL: ENSMUSP00000000175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000175] [ENSMUST00000044051] [ENSMUST00000131351] [ENSMUST00000171462]
AlphaFold Q9CXV1
Predicted Effect probably benign
Transcript: ENSMUST00000000175
AA Change: Q38K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000000175
Gene: ENSMUSG00000000171
AA Change: Q38K

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Pfam:CybS 33 158 7.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044051
SMART Domains Protein: ENSMUSP00000039335
Gene: ENSMUSG00000039016

DomainStartEndE-ValueType
Pfam:zf-Tim10_DDP 14 76 5.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131351
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171462
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,121,650 (GRCm39) H83R probably benign Het
Abcd3 A C 3: 121,563,216 (GRCm39) I471S possibly damaging Het
Abcg1 G A 17: 31,330,225 (GRCm39) V509I probably benign Het
Adamts9 A T 6: 92,880,783 (GRCm39) N497K possibly damaging Het
Agap2 A G 10: 126,919,351 (GRCm39) S479G unknown Het
Asic2 T C 11: 80,777,506 (GRCm39) I402V possibly damaging Het
Atp1a2 G A 1: 172,112,164 (GRCm39) T577I probably benign Het
Atraid T A 5: 31,209,612 (GRCm39) I92K probably damaging Het
Dpp10 C A 1: 123,832,852 (GRCm39) A31S probably damaging Het
Erich6 A T 3: 58,544,232 (GRCm39) F118L probably benign Het
Galnt18 T C 7: 111,119,222 (GRCm39) Y418C probably damaging Het
Herc1 T A 9: 66,389,263 (GRCm39) C3927S possibly damaging Het
Ifit2 G A 19: 34,551,012 (GRCm39) R184H probably benign Het
Kif24 A T 4: 41,428,620 (GRCm39) N113K probably benign Het
Lrp1b T A 2: 41,185,653 (GRCm39) Y1354F probably benign Het
Muc1 T A 3: 89,138,439 (GRCm39) I427N probably damaging Het
Muc5ac A G 7: 141,359,406 (GRCm39) T1288A possibly damaging Het
Or7g32 C A 9: 19,388,645 (GRCm39) M300I probably benign Het
Or9i14 C T 19: 13,792,501 (GRCm39) C151Y possibly damaging Het
Pex26 T A 6: 121,161,363 (GRCm39) V47E probably damaging Het
Plekhm2 T C 4: 141,355,436 (GRCm39) I871V probably damaging Het
Rasal2 A G 1: 157,006,779 (GRCm39) S111P probably damaging Het
Rnf133 A T 6: 23,649,569 (GRCm39) I163N probably damaging Het
Rrp8 A C 7: 105,383,218 (GRCm39) D349E probably damaging Het
Ssh1 C T 5: 114,098,718 (GRCm39) S117N probably damaging Het
Tbc1d2b A G 9: 90,131,915 (GRCm39) M148T probably benign Het
Tnni3k A G 3: 154,645,665 (GRCm39) S470P probably damaging Het
Tnr C T 1: 159,679,877 (GRCm39) Q284* probably null Het
Trim30a A C 7: 104,078,389 (GRCm39) V229G probably damaging Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Uck2 T C 1: 167,064,259 (GRCm39) D90G probably damaging Het
Vmn1r229 A T 17: 21,034,950 (GRCm39) E65V probably benign Het
Vmn2r26 A G 6: 124,038,129 (GRCm39) E568G probably damaging Het
Whamm A G 7: 81,235,886 (GRCm39) E363G probably damaging Het
Wrap53 A G 11: 69,453,272 (GRCm39) S390P probably damaging Het
Wrn A G 8: 33,757,848 (GRCm39) S814P probably benign Het
Zfp329 A G 7: 12,544,211 (GRCm39) C438R probably damaging Het
Zkscan8 T C 13: 21,710,930 (GRCm39) Y60C probably damaging Het
Other mutations in Sdhd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Sdhd APN 9 50,510,125 (GRCm39) missense possibly damaging 0.93
R0600:Sdhd UTSW 9 50,515,064 (GRCm39) missense possibly damaging 0.48
R1776:Sdhd UTSW 9 50,508,500 (GRCm39) missense probably benign 0.23
R7214:Sdhd UTSW 9 50,508,533 (GRCm39) missense possibly damaging 0.87
R7496:Sdhd UTSW 9 50,508,385 (GRCm39) makesense probably null
R8464:Sdhd UTSW 9 50,508,431 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGTAAAGATAGCCAAAGCCCCAAGA -3'
(R):5'- GCGAGTAAACGTAAGAACCGCCA -3'

Sequencing Primer
(F):5'- cacaacttctttaactcccttcc -3'
(R):5'- gtttctgctcctgcctctc -3'
Posted On 2013-07-30