Incidental Mutation 'IGL01092:Sdhb'
ID50884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdhb
Ensembl Gene ENSMUSG00000009863
Gene Namesuccinate dehydrogenase complex, subunit B, iron sulfur (Ip)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01092
Quality Score
Status
Chromosome4
Chromosomal Location140961203-140979193 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 140977480 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Glycine at position 251 (C251G)
Ref Sequence ENSEMBL: ENSMUSP00000010007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010007]
Predicted Effect probably damaging
Transcript: ENSMUST00000010007
AA Change: C251G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
AA Change: C251G

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
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,529,946 R335G probably damaging Het
Atad2b C T 12: 5,017,987 S995L probably damaging Het
Atrn A T 2: 130,947,636 R340* probably null Het
Ccdc83 A T 7: 90,247,105 D85E probably benign Het
Chd2 A T 7: 73,441,686 H1602Q possibly damaging Het
Cog2 A G 8: 124,545,280 D511G probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Creb3l4 T C 3: 90,237,738 E369G probably damaging Het
Crnkl1 T C 2: 145,919,948 K563R probably benign Het
Dbi T C 1: 120,113,477 K131E probably benign Het
Edn1 A G 13: 42,303,671 D60G probably damaging Het
Erbin T C 13: 103,834,012 N1032S probably damaging Het
Ero1l T C 14: 45,303,586 D107G probably benign Het
Glmn A T 5: 107,578,512 probably null Het
Grxcr1 T C 5: 68,110,562 probably benign Het
Itih3 T A 14: 30,909,781 K593I probably damaging Het
Kmt2b T C 7: 30,580,507 Y1356C probably damaging Het
Lrp1b C T 2: 40,750,947 C3495Y probably damaging Het
Map3k13 A T 16: 21,928,016 T950S probably damaging Het
Me1 A T 9: 86,598,748 V348D probably damaging Het
Morc2a T C 11: 3,684,042 V718A probably benign Het
Myh7 T C 14: 54,971,632 E1883G possibly damaging Het
Olfr1338 T A 4: 118,753,762 I259F possibly damaging Het
Olfr913 T G 9: 38,594,905 I228R probably damaging Het
Pdcd6ip A G 9: 113,680,181 probably benign Het
Plcb3 T A 19: 6,955,322 E1025V probably benign Het
Ppp1r26 C T 2: 28,453,860 probably benign Het
Prkd1 T C 12: 50,383,515 probably benign Het
Rwdd4a C T 8: 47,544,112 T122M possibly damaging Het
Siglec1 A T 2: 131,079,217 I678N probably damaging Het
Snrnp70 T C 7: 45,377,377 D215G probably damaging Het
Ston1 A G 17: 88,644,443 E674G probably benign Het
Tbl3 A T 17: 24,705,252 I177N probably damaging Het
Tbl3 T C 17: 24,701,905 probably benign Het
Tnrc6c T C 11: 117,721,985 V483A probably damaging Het
Other mutations in Sdhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6235:Sdhb UTSW 4 140973673 missense probably damaging 0.98
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
Posted On2013-06-21