Mutagenetix > Incidental Mutation

Incidental Mutation 'R2358:Sdhb'

247003

Institutional Source

Beutler Lab

Gene Symbol

Sdhb

Ensembl Gene

ENSMUSG00000009863

Gene Name

succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

Synonyms

0710008N11Rik

MMRRC Submission

040340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140688582-140706509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140700311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000010007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010007]

AlphaFold

Q9CQA3

Predicted Effect

probably damaging
Transcript: ENSMUST00000010007
AA Change: V137A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
AA Change: V137A

Domain	Start	End	E-Value	Type
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

0.9581

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Ankzf1	C	T	1: 75,171,895 (GRCm39)	H209Y	probably damaging	Het
Ate1	A	T	7: 130,117,895 (GRCm39)	M30K	probably damaging	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Cela1	A	G	15: 100,579,109 (GRCm39)	I183T	probably benign	Het
Copg2	A	T	6: 30,803,168 (GRCm39)	L259*	probably null	Het
Dennd2b	A	T	7: 109,155,653 (GRCm39)	S366T	probably benign	Het
Efcab7	T	A	4: 99,719,823 (GRCm39)		probably benign	Het
Fcrl5	A	G	3: 87,353,726 (GRCm39)	E357G	probably damaging	Het
Fzr1	C	T	10: 81,203,474 (GRCm39)		probably null	Het
Il12rb2	C	T	6: 67,275,179 (GRCm39)	A649T	probably damaging	Het
Itfg1	C	A	8: 86,464,758 (GRCm39)	V438F	probably damaging	Het
Jaml	A	C	9: 45,012,361 (GRCm39)	I283L	possibly damaging	Het
Kif28	A	T	1: 179,537,024 (GRCm39)	H486Q	probably damaging	Het
Lrch4	A	G	5: 137,636,810 (GRCm39)		probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mrpl32	A	T	13: 14,785,165 (GRCm39)	V157E	probably damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nlrp4a	A	G	7: 26,163,623 (GRCm39)	D930G	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or7a35	T	C	10: 78,854,022 (GRCm39)	F289L	probably damaging	Het
Ovch2	A	T	7: 107,394,122 (GRCm39)	H110Q	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Ptpn12	G	A	5: 21,203,690 (GRCm39)	P363S	probably damaging	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,825,785 (GRCm39)		probably benign	Het
Rpl13-ps3	A	G	14: 59,131,265 (GRCm39)		noncoding transcript	Het
Sap18b	G	A	8: 96,552,191 (GRCm39)	R67H	probably benign	Het
Shmt2	T	C	10: 127,353,897 (GRCm39)	T459A	probably benign	Het
Siglecg	A	G	7: 43,058,846 (GRCm39)	S200G	possibly damaging	Het
Slc6a15	T	G	10: 103,252,646 (GRCm39)	I603S	probably benign	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Spata31d1a	G	A	13: 59,851,702 (GRCm39)	S142L	probably benign	Het
Spopfm2	G	A	3: 94,082,854 (GRCm39)	A319V	possibly damaging	Het
Spopfm2	C	A	3: 94,082,855 (GRCm39)	A319S	possibly damaging	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Strip1	A	G	3: 107,523,135 (GRCm39)	V633A	probably benign	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Terb2	T	A	2: 122,028,913 (GRCm39)	C157S	probably benign	Het
Themis	T	A	10: 28,739,376 (GRCm39)	N615K	possibly damaging	Het
Tlnrd1	A	T	7: 83,531,488 (GRCm39)	D314E	probably benign	Het
Vmn1r205	T	A	13: 22,776,566 (GRCm39)	T179S	probably benign	Het
Vsig10l	G	A	7: 43,118,185 (GRCm39)	R689H	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Zfp423	G	T	8: 88,507,179 (GRCm39)	A1034D	possibly damaging	Het
Zfy2	T	C	Y: 2,107,272 (GRCm39)	E454G	possibly damaging	Het
Zyg11a	G	T	4: 108,053,343 (GRCm39)	Q440K	possibly damaging	Het

Other mutations in Sdhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4782:Sdhb	UTSW	4	140,704,777 (GRCm39)	missense	possibly damaging	0.59
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
(F):5'- TACATCCTCTGTTAGCGCAG -3'
(R):5'- TGGGAAGGGGTTCCTAATGC -3'

Sequencing Primer
(F):5'- CAGCTACTGATGTGAGCAGTG -3'
(R):5'- AATGCCTCTGTGGACTCTGGAAAC -3'

Posted On

2014-10-30