Mutagenetix > Incidental Mutation

Incidental Mutation 'R6235:Sdhb'

504858

Institutional Source

Beutler Lab

Gene Symbol

Sdhb

Ensembl Gene

ENSMUSG00000009863

Gene Name

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

Synonyms

0710008N11Rik

MMRRC Submission

044433-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140688582-140706509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140700984 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q9CQA3

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

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

0.0776

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adam6b	T	C	12: 113,455,330 (GRCm39)	F716L	probably benign	Het
Akip1	A	G	7: 109,306,620 (GRCm39)	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,541,439 (GRCm39)	I278F	probably benign	Het
Aplnr	A	G	2: 84,967,970 (GRCm39)	T332A	probably benign	Het
Aqp4	A	G	18: 15,531,170 (GRCm39)	V197A	probably damaging	Het
Arid4a	A	T	12: 71,116,546 (GRCm39)		probably null	Het
Baiap2	A	T	11: 119,872,234 (GRCm39)	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,171,217 (GRCm39)		probably null	Het
Cep78	T	C	19: 15,953,850 (GRCm39)		probably null	Het
Cldn3	T	C	5: 135,015,573 (GRCm39)	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,512,499 (GRCm39)	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Copg2	A	G	6: 30,793,006 (GRCm39)	I443T	probably damaging	Het
Crhbp	C	A	13: 95,580,358 (GRCm39)	A81S	probably damaging	Het
Csad	A	T	15: 102,087,041 (GRCm39)	V410D	probably damaging	Het
Ctps1	G	A	4: 120,416,003 (GRCm39)	L207F	probably benign	Het
Dab2ip	A	G	2: 35,613,099 (GRCm39)	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,734,854 (GRCm39)	A5G	probably benign	Het
Dnah12	A	T	14: 26,576,761 (GRCm39)	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,999,029 (GRCm39)		probably benign	Het
Fbxw28	C	A	9: 109,155,258 (GRCm39)	W356C	probably damaging	Het
Gimap6	G	T	6: 48,679,391 (GRCm39)	T215K	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Hunk	A	G	16: 90,229,594 (GRCm39)	I152V	probably damaging	Het
Itk	T	C	11: 46,227,255 (GRCm39)	E456G	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lars2	T	C	9: 123,240,945 (GRCm39)	V204A	probably damaging	Het
Lipo3	A	G	19: 33,760,963 (GRCm39)	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,424,046 (GRCm39)	R809W	probably damaging	Het
Magi3	C	T	3: 103,923,384 (GRCm39)	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,205,182 (GRCm39)	V47E	probably damaging	Het
Mpdz	T	C	4: 81,303,518 (GRCm39)	E140G	probably damaging	Het
Myo1d	T	C	11: 80,583,770 (GRCm39)	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113 (GRCm38)	Y26*	probably null	Het
Ntng2	C	A	2: 29,117,991 (GRCm39)	E152D	probably damaging	Het
Or10w1	C	A	19: 13,632,145 (GRCm39)	C117*	probably null	Het
Or5m9b	T	C	2: 85,905,510 (GRCm39)	L142P	possibly damaging	Het
Otud3	A	T	4: 138,629,212 (GRCm39)	V185D	probably damaging	Het
Parp6	C	T	9: 59,538,098 (GRCm39)	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,849,483 (GRCm39)	T497A	probably benign	Het
Ppp1r18	A	G	17: 36,184,769 (GRCm39)	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,431,928 (GRCm39)	L151P	probably damaging	Het
Pth1r	C	T	9: 110,551,384 (GRCm39)	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,471,199 (GRCm39)	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,517 (GRCm39)	T480A	possibly damaging	Het
Rax	T	A	18: 66,068,232 (GRCm39)	Q291L	unknown	Het
Reck	T	C	4: 43,937,450 (GRCm39)	L734P	probably damaging	Het
Rgmb	A	G	17: 16,041,081 (GRCm39)	F169L	probably damaging	Het
Rhobtb3	T	C	13: 76,041,029 (GRCm39)	I426M	probably damaging	Het
Ring1	C	A	17: 34,242,280 (GRCm39)	A76S	probably damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rpusd2	A	G	2: 118,865,338 (GRCm39)	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985 (GRCm39)	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Ryr1	G	T	7: 28,815,606 (GRCm39)	Q95K	probably benign	Het
S1pr4	T	A	10: 81,334,716 (GRCm39)	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,291,679 (GRCm39)	V1689G	probably damaging	Het
Sdk1	A	T	5: 142,020,181 (GRCm39)	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,232,791 (GRCm39)	M232K	probably damaging	Het
Sipa1l2	A	T	8: 126,201,610 (GRCm39)	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,476,673 (GRCm39)	I396N	probably benign	Het
Slc6a13	A	T	6: 121,279,753 (GRCm39)	E42D	probably benign	Het
Stard9	G	A	2: 120,544,027 (GRCm39)	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,452,071 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,177,104 (GRCm39)	I356V	probably benign	Het
Tcam1	C	T	11: 106,174,880 (GRCm39)	Q112*	probably null	Het
Tdp2	T	A	13: 25,024,378 (GRCm39)	L225*	probably null	Het
Tmprss7	A	G	16: 45,478,485 (GRCm39)	V747A	probably benign	Het
Ugt2b34	T	A	5: 87,054,223 (GRCm39)	Y186F	probably benign	Het
Usp37	G	T	1: 74,514,292 (GRCm39)	S293*	probably null	Het
Vmn1r36	A	G	6: 66,693,230 (GRCm39)	I109T	probably benign	Het
Vsig10l	T	A	7: 43,118,396 (GRCm39)	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,159,596 (GRCm39)	C18*	probably null	Het
Zfp959	T	C	17: 56,204,427 (GRCm39)	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,296,373 (GRCm39)	C1949S	probably damaging	Het
Zswim9	T	A	7: 12,995,529 (GRCm39)	E209V	probably 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
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
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'- TTCCCAGCTCTGTGGCTAAC -3'
(R):5'- CACGATTAGTGTTCTGTGTCAC -3'

Sequencing Primer
(F):5'- GTGGCTAACACTGACCGTG -3'
(R):5'- ACGATTAGTGTTCTGTGTCACTCTAC -3'

Posted On

2018-02-28