Incidental Mutation 'R6235:Sdhb'
ID504858
Institutional Source Beutler Lab
Gene Symbol Sdhb
Ensembl Gene ENSMUSG00000009863
Gene Namesuccinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6235 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location140961203-140979193 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140973673 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 147 (N147D)
Ref Sequence ENSEMBL: ENSMUSP00000010007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010007]
Predicted Effect probably damaging
Transcript: ENSMUST00000010007
AA Change: N147D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
AA Change: N147D

DomainStartEndE-ValueType
Pfam:Fer2_3 43 150 5e-36 PFAM
Pfam:Fer4_8 185 259 2.2e-9 PFAM
Pfam:Fer4_17 187 260 1.8e-11 PFAM
Pfam:Fer4_18 193 262 1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129181
Meta Mutation Damage Score 0.0776 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: The gene is involved in the hypoxia-induced RNA editing pathway in monocytes. Heterozygous compound KOs show reduced increase in blood hemoglobin under hypoxic conditions. Homozygous inactivation of this gene results in complete embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T C 12: 113,491,710 F716L probably benign Het
Akip1 A G 7: 109,707,413 M106V probably benign Het
Aldh1l1 A T 6: 90,564,457 I278F probably benign Het
Aplnr A G 2: 85,137,626 T332A probably benign Het
Aqp4 A G 18: 15,398,113 V197A probably damaging Het
Arid4a A T 12: 71,069,772 probably null Het
Baiap2 A T 11: 119,981,408 N99Y probably damaging Het
Ceacam1 A T 7: 25,471,792 probably null Het
Cep78 T C 19: 15,976,486 probably null Het
Cldn3 T C 5: 134,986,719 F92S possibly damaging Het
Clec16a C A 16: 10,694,635 P812Q probably damaging Het
Cnga4 T G 7: 105,407,699 Y336* probably null Het
Copg2 A G 6: 30,816,071 I443T probably damaging Het
Crhbp C A 13: 95,443,850 A81S probably damaging Het
Csad A T 15: 102,178,606 V410D probably damaging Het
Ctps G A 4: 120,558,806 L207F probably benign Het
Dab2ip A G 2: 35,723,087 E1003G probably damaging Het
Ddx31 C G 2: 28,844,842 A5G probably benign Het
Dnah12 A T 14: 26,854,804 I3004F probably damaging Het
Fbxo15 A G 18: 84,980,904 probably benign Het
Fbxw28 C A 9: 109,326,190 W356C probably damaging Het
Gimap6 G T 6: 48,702,457 T215K probably benign Het
Gm5346 T G 8: 43,625,912 N425T probably benign Het
Hspa4 C T 11: 53,262,939 E702K probably benign Het
Hunk A G 16: 90,432,706 I152V probably damaging Het
Itk T C 11: 46,336,428 E456G probably benign Het
Krt40 G A 11: 99,543,094 A22V possibly damaging Het
Lars2 T C 9: 123,411,880 V204A probably damaging Het
Lipo1 A G 19: 33,783,563 Y140H probably damaging Het
Lrp1 G A 10: 127,588,177 R809W probably damaging Het
Magi3 C T 3: 104,016,068 G1111D probably damaging Het
Mis18bp1 A T 12: 65,158,408 V47E probably damaging Het
Mpdz T C 4: 81,385,281 E140G probably damaging Het
Myo1d T C 11: 80,692,944 I81V probably benign Het
Nek10 T A 14: 14,821,113 Y26* probably null Het
Ntng2 C A 2: 29,227,979 E152D probably damaging Het
Olfr1036 T C 2: 86,075,166 L142P possibly damaging Het
Olfr1490 C A 19: 13,654,781 C117* probably null Het
Otud3 A T 4: 138,901,901 V185D probably damaging Het
Parp6 C T 9: 59,630,815 R248W probably benign Het
Pcdhga7 A G 18: 37,716,430 T497A probably benign Het
Ppp1r18 A G 17: 35,873,877 E140G probably damaging Het
Prl3b1 T C 13: 27,247,945 L151P probably damaging Het
Pth1r C T 9: 110,722,316 E572K possibly damaging Het
Ptprq T A 10: 107,635,338 T1401S possibly damaging Het
Rad51ap2 A G 12: 11,457,516 T480A possibly damaging Het
Rax T A 18: 65,935,161 Q291L unknown Het
Reck T C 4: 43,937,450 L734P probably damaging Het
Rgmb A G 17: 15,820,819 F169L probably damaging Het
Rhobtb3 T C 13: 75,892,910 I426M probably damaging Het
Ring1 C A 17: 34,023,306 A76S probably damaging Het
Robo3 T G 9: 37,420,929 Y891S probably damaging Het
Rpusd2 A G 2: 119,034,857 I12V probably benign Het
Rragd T C 4: 32,995,985 V165A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,579,909 probably benign Homo
Ryr1 G T 7: 29,116,181 Q95K probably benign Het
S1pr4 T A 10: 81,498,882 N253Y possibly damaging Het
Scn3a A C 2: 65,461,335 V1689G probably damaging Het
Sdk1 A T 5: 142,034,426 H913L possibly damaging Het
Serpina3i T A 12: 104,266,532 M232K probably damaging Het
Sipa1l2 A T 8: 125,474,871 V646E probably damaging Het
Slc38a1 A T 15: 96,578,792 I396N probably benign Het
Slc6a13 A T 6: 121,302,794 E42D probably benign Het
Stard9 G A 2: 120,713,546 V4442M probably damaging Het
Sumo3 T A 10: 77,616,237 probably benign Het
Syngap1 A G 17: 26,958,130 I356V probably benign Het
Tcam1 C T 11: 106,284,054 Q112* probably null Het
Tdp2 T A 13: 24,840,395 L225* probably null Het
Tmprss7 A G 16: 45,658,122 V747A probably benign Het
Ugt2b34 T A 5: 86,906,364 Y186F probably benign Het
Usp37 G T 1: 74,475,133 S293* probably null Het
Vmn1r36 A G 6: 66,716,246 I109T probably benign Het
Vsig10l T A 7: 43,468,972 V798E probably benign Het
Zfp36l1 G T 12: 80,112,822 C18* probably null Het
Zfp959 T C 17: 55,897,427 Y152H probably damaging Het
Zfyve26 A T 12: 79,249,599 C1949S probably damaging Het
Zswim9 T A 7: 13,261,603 E209V probably damaging Het
Other mutations in Sdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Sdhb APN 4 140977480 missense probably damaging 1.00
IGL01542:Sdhb APN 4 140972967 missense probably benign
IGL01790:Sdhb APN 4 140973727 missense probably benign
IGL03003:Sdhb APN 4 140973000 missense probably damaging 1.00
R1070:Sdhb UTSW 4 140971236 splice site probably benign
R1971:Sdhb UTSW 4 140972949 missense possibly damaging 0.81
R2008:Sdhb UTSW 4 140979029 missense probably damaging 1.00
R2358:Sdhb UTSW 4 140973000 missense probably damaging 1.00
R3821:Sdhb UTSW 4 140979088 nonsense probably null
R4202:Sdhb UTSW 4 140979068 missense possibly damaging 0.64
R4611:Sdhb UTSW 4 140972915 missense probably damaging 1.00
R4782:Sdhb UTSW 4 140977466 missense possibly damaging 0.59
R4799:Sdhb UTSW 4 140977466 missense possibly damaging 0.59
R6426:Sdhb UTSW 4 140973718 missense probably benign 0.01
R6768:Sdhb UTSW 4 140979053 missense probably damaging 1.00
R6787:Sdhb UTSW 4 140976190 missense probably damaging 1.00
R7255:Sdhb UTSW 4 140977418 missense possibly damaging 0.55
R7520:Sdhb UTSW 4 140966571 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TTCCCAGCTCTGTGGCTAAC -3'
(R):5'- CACGATTAGTGTTCTGTGTCAC -3'

Sequencing Primer
(F):5'- GTGGCTAACACTGACCGTG -3'
(R):5'- ACGATTAGTGTTCTGTGTCACTCTAC -3'
Posted On2018-02-28