Incidental Mutation 'R4782:Sdhb'
ID 366582
Institutional Source Beutler Lab
Gene Symbol Sdhb
Ensembl Gene ENSMUSG00000009863
Gene Name succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Synonyms 0710008N11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4782 (G1)
Quality Score 190
Status Not validated
Chromosome 4
Chromosomal Location 140688582-140706509 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140704777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 246 (H246R)
Ref Sequence ENSEMBL: ENSMUSP00000010007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010007]
AlphaFold Q9CQA3
Predicted Effect possibly damaging
Transcript: ENSMUST00000010007
AA Change: H246R

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
AA Change: H246R

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 0.4054 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,278,096 (GRCm39) E3092G probably damaging Het
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Abtb2 A T 2: 103,547,644 (GRCm39) D1006V probably benign Het
Abtb3 A C 10: 85,490,414 (GRCm39) I1027L probably damaging Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ahnak A G 19: 8,989,863 (GRCm39) probably benign Het
Akap6 CA C 12: 52,934,406 (GRCm39) probably null Het
Amotl2 T G 9: 102,597,322 (GRCm39) probably null Het
Ankrd34b T A 13: 92,574,813 (GRCm39) I15N probably damaging Het
Ap3d1 C T 10: 80,557,420 (GRCm39) probably null Het
Appl2 A T 10: 83,436,855 (GRCm39) D635E probably damaging Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atp10a T C 7: 58,440,843 (GRCm39) M496T probably benign Het
Atp2c2 A G 8: 120,475,891 (GRCm39) K595E probably damaging Het
Atpaf2 T C 11: 60,295,238 (GRCm39) H204R probably damaging Het
Atr G A 9: 95,744,850 (GRCm39) V56I probably benign Het
Bod1l G A 5: 41,991,006 (GRCm39) T183I probably benign Het
Ccdc168 T C 1: 44,098,203 (GRCm39) D965G possibly damaging Het
Ccdc171 A T 4: 83,599,253 (GRCm39) E689D probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cert1 T C 13: 96,748,773 (GRCm39) V281A probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Col22a1 T A 15: 71,673,774 (GRCm39) T981S unknown Het
Cpox G A 16: 58,492,986 (GRCm39) A207T probably damaging Het
Cym G A 3: 107,123,413 (GRCm39) T160I possibly damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddx4 C T 13: 112,750,230 (GRCm39) probably null Het
Ddx4 A T 13: 112,787,894 (GRCm39) V15E probably benign Het
Depdc1a G A 3: 159,232,273 (GRCm39) E675K probably damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Dlg4 C T 11: 69,917,780 (GRCm39) P21L probably damaging Het
Dmxl1 A T 18: 49,996,059 (GRCm39) N395I probably damaging Het
Dzank1 A T 2: 144,346,319 (GRCm39) C249S probably damaging Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,982,552 (GRCm39) I244S probably damaging Het
Ewsr1 A T 11: 5,020,423 (GRCm39) M584K unknown Het
Fam193b A G 13: 55,691,284 (GRCm39) S197P probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbxo31 A T 8: 122,279,178 (GRCm39) Y436* probably null Het
Fbxo31 A G 8: 122,279,180 (GRCm39) Y436H probably damaging Het
Fcna T A 2: 25,515,338 (GRCm39) D215V probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gcnt4 A T 13: 97,083,914 (GRCm39) L403F possibly damaging Het
Gdf10 A G 14: 33,653,870 (GRCm39) T126A probably benign Het
Ggcx A G 6: 72,405,875 (GRCm39) K569E probably benign Het
Gm10250 C T 15: 5,150,578 (GRCm39) probably benign Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Ifi44 G A 3: 151,451,229 (GRCm39) P241S probably damaging Het
Irs1 T C 1: 82,265,184 (GRCm39) T1011A probably benign Het
Jag2 A T 12: 112,877,869 (GRCm39) S595T probably benign Het
Kif5a T A 10: 127,066,823 (GRCm39) Q960L probably benign Het
Kifc2 A G 15: 76,548,548 (GRCm39) E430G possibly damaging Het
Lama3 T A 18: 12,544,627 (GRCm39) C323* probably null Het
Lgsn T C 1: 31,242,823 (GRCm39) Y302H probably benign Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrpap1 A G 5: 35,256,622 (GRCm39) V120A probably damaging Het
Macrod2 T A 2: 140,261,858 (GRCm39) D46E possibly damaging Het
Mbd4 C A 6: 115,822,283 (GRCm39) R63L possibly damaging Het
Mfsd10 T C 5: 34,792,293 (GRCm39) probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Ngb G A 12: 87,146,999 (GRCm39) H73Y probably benign Het
Npepps G A 11: 97,117,652 (GRCm39) T549I probably damaging Het
Nr1h2 A G 7: 44,199,923 (GRCm39) V329A possibly damaging Het
Nsun6 T C 2: 15,041,137 (GRCm39) I151M possibly damaging Het
Ofcc1 T C 13: 40,155,368 (GRCm39) probably null Het
Or1e31 C T 11: 73,689,665 (GRCm39) C306Y probably benign Het
Or2y16 T A 11: 49,334,696 (GRCm39) F6Y probably benign Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or51h1 T A 7: 102,308,041 (GRCm39) N4K possibly damaging Het
Or5an1c C T 19: 12,218,936 (GRCm39) V30I probably benign Het
Or8b46 A G 9: 38,450,371 (GRCm39) Y60C probably damaging Het
Parp6 A G 9: 59,542,267 (GRCm39) probably null Het
Pcnt C A 10: 76,245,411 (GRCm39) R1075S possibly damaging Het
Pla2g4f T C 2: 120,133,757 (GRCm39) E548G probably damaging Het
Polrmt G T 10: 79,575,357 (GRCm39) H725N probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Prtn3 C A 10: 79,717,899 (GRCm39) P169H probably damaging Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Ptprh A T 7: 4,572,576 (GRCm39) H467Q probably benign Het
Raph1 A T 1: 60,528,273 (GRCm39) I996N probably damaging Het
Rasa4 G A 5: 136,120,083 (GRCm39) W53* probably null Het
Rasgrp1 C T 2: 117,115,356 (GRCm39) R744Q probably benign Het
Rmnd5a T C 6: 71,390,333 (GRCm39) E141G probably damaging Het
Rps12 T C 10: 23,662,688 (GRCm39) I51M possibly damaging Het
Scn10a T G 9: 119,451,976 (GRCm39) S1316R possibly damaging Het
Setx G A 2: 29,034,058 (GRCm39) R332Q probably damaging Het
Siglec1 A C 2: 130,917,843 (GRCm39) S1011R probably damaging Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Slc11a1 T G 1: 74,423,247 (GRCm39) L366R probably damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Slc30a1 A C 1: 191,641,160 (GRCm39) K269Q probably benign Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Slf2 T A 19: 44,923,364 (GRCm39) probably null Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spta1 A T 1: 174,058,232 (GRCm39) Q1900L probably benign Het
Srgn C T 10: 62,333,631 (GRCm39) E49K possibly damaging Het
Ssu2 A C 6: 112,353,411 (GRCm39) C238G probably damaging Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Thra G A 11: 98,646,990 (GRCm39) S37N probably benign Het
Toporsl A G 4: 52,610,845 (GRCm39) D246G probably damaging Het
Ubap2l G A 3: 89,928,210 (GRCm39) T553M probably damaging Het
Usp10 A G 8: 120,667,930 (GRCm39) Y77C probably benign Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r204 T G 13: 22,740,867 (GRCm39) F166C probably benign Het
Vmn2r14 T C 5: 109,369,370 (GRCm39) I68V probably benign Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Wsb1 A G 11: 79,131,199 (GRCm39) M399T probably benign Het
Xbp1 C T 11: 5,471,167 (GRCm39) T58M probably damaging Het
Zbtb46 A T 2: 181,032,929 (GRCm39) D577E probably benign Het
Zfp366 A G 13: 99,382,991 (GRCm39) D718G probably damaging Het
Zfp408 A T 2: 91,475,369 (GRCm39) V595E possibly damaging Het
Zfp493 T A 13: 67,934,322 (GRCm39) W60R probably null Het
Zfp606 A T 7: 12,227,932 (GRCm39) K626N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V probably benign Het
Other mutations in Sdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Sdhb APN 4 140,704,791 (GRCm39) missense probably damaging 1.00
IGL01542:Sdhb APN 4 140,700,278 (GRCm39) missense probably benign
IGL01790:Sdhb APN 4 140,701,038 (GRCm39) missense probably benign
IGL03003:Sdhb APN 4 140,700,311 (GRCm39) missense probably damaging 1.00
R1070:Sdhb UTSW 4 140,698,547 (GRCm39) splice site probably benign
R1971:Sdhb UTSW 4 140,700,260 (GRCm39) missense possibly damaging 0.81
R2008:Sdhb UTSW 4 140,706,340 (GRCm39) missense probably damaging 1.00
R2358:Sdhb UTSW 4 140,700,311 (GRCm39) missense probably damaging 1.00
R3821:Sdhb UTSW 4 140,706,399 (GRCm39) nonsense probably null
R4202:Sdhb UTSW 4 140,706,379 (GRCm39) missense possibly damaging 0.64
R4611:Sdhb UTSW 4 140,700,226 (GRCm39) missense probably damaging 1.00
R4799:Sdhb UTSW 4 140,704,777 (GRCm39) missense possibly damaging 0.59
R6235:Sdhb UTSW 4 140,700,984 (GRCm39) missense probably damaging 0.98
R6426:Sdhb UTSW 4 140,701,029 (GRCm39) missense probably benign 0.01
R6768:Sdhb UTSW 4 140,706,364 (GRCm39) missense probably damaging 1.00
R6787:Sdhb UTSW 4 140,703,501 (GRCm39) missense probably damaging 1.00
R7255:Sdhb UTSW 4 140,704,729 (GRCm39) missense possibly damaging 0.55
R7520:Sdhb UTSW 4 140,693,882 (GRCm39) missense possibly damaging 0.88
R9335:Sdhb UTSW 4 140,700,250 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-12-29