Mutagenetix > Incidental Mutation

Incidental Mutation 'R3821:Sdhb'

274907

Institutional Source

Beutler Lab

Gene Symbol

Sdhb

Ensembl Gene

ENSMUSG00000009863

Gene Name

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

Synonyms

0710008N11Rik

MMRRC Submission

040883-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140688582-140706509 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 140706399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 279 (R279*)

Ref Sequence

ENSEMBL: ENSMUSP00000010007 (fasta)

Gene Model

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

AlphaFold

Q9CQA3

Predicted Effect

probably null
Transcript: ENSMUST00000010007
AA Change: R279*

SMART Domains

Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
AA Change: R279*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Acp3	G	T	9: 104,201,916 (GRCm39)	Q76K	probably damaging	Het
Adamtsl3	G	T	7: 82,255,687 (GRCm39)		probably benign	Het
Alox8	T	A	11: 69,077,308 (GRCm39)	I481F	probably damaging	Het
Anp32e	A	T	3: 95,842,181 (GRCm39)	I100L	probably benign	Het
Arpin	G	A	7: 79,579,408 (GRCm39)	R72C	probably damaging	Het
C6	A	G	15: 4,819,066 (GRCm39)	E466G	probably benign	Het
Ccdc13	C	A	9: 121,660,085 (GRCm39)	L76F	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Clgn	A	G	8: 84,147,106 (GRCm39)	I353V	probably null	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cramp1	G	A	17: 25,193,756 (GRCm39)	T908I	probably damaging	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Ehd3	A	T	17: 74,134,390 (GRCm39)	I250F	probably benign	Het
Eml2	T	C	7: 18,936,911 (GRCm39)	V555A	possibly damaging	Het
Erbb4	A	G	1: 68,345,072 (GRCm39)	S550P	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flad1	T	A	3: 89,318,494 (GRCm39)	I20F	probably damaging	Het
Frem2	A	T	3: 53,559,836 (GRCm39)	L1557Q	probably damaging	Het
Gbf1	T	C	19: 46,253,246 (GRCm39)	I506T	probably damaging	Het
Gm20730	C	T	6: 43,058,656 (GRCm39)	S52N	probably benign	Het
Hoxc9	A	G	15: 102,890,596 (GRCm39)	K171R	probably benign	Het
Hscb	A	T	5: 110,984,194 (GRCm39)	D52E	probably damaging	Het
Htr1b	A	T	9: 81,514,487 (GRCm39)	I40N	probably benign	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Irs1	T	C	1: 82,267,770 (GRCm39)	T149A	probably benign	Het
Itgam	A	G	7: 127,711,458 (GRCm39)		probably null	Het
Itpr2	A	T	6: 146,319,224 (GRCm39)	H244Q	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Kdm3a	A	T	6: 71,588,661 (GRCm39)	D449E	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lhfpl4	A	G	6: 113,171,069 (GRCm39)	V39A	probably benign	Het
Marf1	A	T	16: 13,960,418 (GRCm39)	L542Q	probably damaging	Het
Mns1	A	G	9: 72,346,730 (GRCm39)	E71G	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrpl19	C	A	6: 81,938,987 (GRCm39)	E272*	probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Neto2	C	A	8: 86,389,924 (GRCm39)	E180*	probably null	Het
Or2a51	A	G	6: 43,178,604 (GRCm39)	T9A	probably benign	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Ptprb	G	T	10: 116,185,979 (GRCm39)	R1678L	probably benign	Het
Ptprg	A	T	14: 12,226,375 (GRCm38)	I1323L	probably benign	Het
Rab40b	T	A	11: 121,248,874 (GRCm39)	N127I	probably damaging	Het
Scn10a	A	G	9: 119,467,699 (GRCm39)	C814R	probably benign	Het
Shroom4	C	T	X: 6,536,276 (GRCm39)	Q1165*	probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Slc20a2	A	G	8: 23,028,918 (GRCm39)	I130V	probably benign	Het
Slitrk3	T	C	3: 72,956,549 (GRCm39)	Y741C	possibly damaging	Het
Tas1r1	G	T	4: 152,119,138 (GRCm39)	L144I	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmbim1	A	G	1: 74,333,089 (GRCm39)	V92A	probably damaging	Het
Tmem131	T	A	1: 36,847,477 (GRCm39)	H1207L	probably damaging	Het
Tmem209	G	T	6: 30,505,959 (GRCm39)	P116T	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Tnfsf8	A	G	4: 63,779,127 (GRCm39)	V57A	probably benign	Het
Topaz1	A	G	9: 122,626,848 (GRCm39)	D1492G	possibly damaging	Het
Trank1	G	A	9: 111,207,887 (GRCm39)	G1711R	probably damaging	Het
Trpc6	A	T	9: 8,610,279 (GRCm39)	D249V	probably damaging	Het
Ubr3	G	A	2: 69,824,157 (GRCm39)		probably null	Het
Ufc1	A	G	1: 171,117,172 (GRCm39)		probably benign	Het
Unc5cl	T	C	17: 48,767,001 (GRCm39)	L125P	possibly damaging	Het
Usb1	G	A	8: 96,060,061 (GRCm39)	S57N	probably benign	Het
Wdfy1	A	G	1: 79,684,017 (GRCm39)	S373P	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	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
R2358:Sdhb	UTSW	4	140,700,311 (GRCm39)	missense	probably damaging	1.00
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'- CATGGGTCATCGTGGGATAG -3'
(R):5'- CTTGGTTGTGTGCAATCCTC -3'

Sequencing Primer
(F):5'- CATCGTGGGATAGGCCTGG -3'
(R):5'- TCATCGGAGCTCAGGTCTG -3'

Posted On

2015-04-02