Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Sdhc'

54858

Institutional Source

Beutler Lab

Gene Symbol

Sdhc

Ensembl Gene

ENSMUSG00000058076

Gene Name

succinate dehydrogenase complex, subunit C, integral membrane protein

Synonyms

0610010E03Rik

MMRRC Submission

038802-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0613 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

170956726-170978209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 170957413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 156 (V156E)

Ref Sequence

ENSEMBL: ENSMUSP00000106968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027959] [ENSMUST00000081560] [ENSMUST00000111336] [ENSMUST00000124157] [ENSMUST00000127394] [ENSMUST00000129651] [ENSMUST00000143623] [ENSMUST00000151340]

AlphaFold

Q9CZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000027959

SMART Domains

Protein: ENSMUSP00000027959
Gene: ENSMUSG00000026649

Domain	Start	End	E-Value	Type
low complexity region	122	136	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081560
AA Change: V122E

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076
AA Change: V122E

Domain	Start	End	E-Value	Type
Pfam:Sdh_cyt	12	132	2.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111336
AA Change: V156E

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076
AA Change: V156E

Domain	Start	End	E-Value	Type
Pfam:Sdh_cyt	46	166	2.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124157

SMART Domains

Protein: ENSMUSP00000115108
Gene: ENSMUSG00000026649

Domain	Start	End	E-Value	Type
low complexity region	150	164	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127394

Predicted Effect

probably benign
Transcript: ENSMUST00000129651

SMART Domains

Protein: ENSMUSP00000114967
Gene: ENSMUSG00000026649

Domain	Start	End	E-Value	Type
low complexity region	166	180	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143623

Predicted Effect

probably benign
Transcript: ENSMUST00000156789

Predicted Effect

probably benign
Transcript: ENSMUST00000151340

SMART Domains

Protein: ENSMUSP00000123188
Gene: ENSMUSG00000026649

Domain	Start	End	E-Value	Type
low complexity region	122	136	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
PHENOTYPE: Heterozygous compound knockouts (with Sdhb or Sdhb and Sdhd) show reduced increase in blood hemoglobin under hypoxic conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 106,427,200 (GRCm39)		probably null	Het
Adcy9	A	G	16: 4,237,403 (GRCm39)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,248,859 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,004 (GRCm39)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,596,979 (GRCm39)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,611,978 (GRCm39)	I384N	probably damaging	Het
Brca1	A	T	11: 101,399,036 (GRCm39)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,399,850 (GRCm39)	V94A	probably benign	Het
Cep170	T	C	1: 176,602,246 (GRCm39)	T287A	probably benign	Het
Ces1a	A	G	8: 93,752,209 (GRCm39)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,906,228 (GRCm39)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,687,496 (GRCm39)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 95,990,316 (GRCm39)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,019,061 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,102,383 (GRCm39)		probably benign	Het
Entrep1	T	A	19: 23,963,853 (GRCm39)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,848,347 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,824,139 (GRCm39)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,068,297 (GRCm39)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,545,174 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,848,221 (GRCm39)		probably null	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,737,721 (GRCm39)	N293K	probably damaging	Het
Hps6	C	A	19: 45,992,260 (GRCm39)	P66T	probably benign	Het
Hspa9	A	T	18: 35,081,033 (GRCm39)	V216E	probably damaging	Het
Igsf8	T	A	1: 172,145,156 (GRCm39)	M224K	probably benign	Het
Igsf9b	T	C	9: 27,238,216 (GRCm39)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,884,168 (GRCm39)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,696,603 (GRCm39)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,465,458 (GRCm39)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,739,184 (GRCm39)		probably benign	Het
Map1b	T	A	13: 99,578,149 (GRCm39)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,697,855 (GRCm39)		probably benign	Het
Mgst1	G	A	6: 138,133,243 (GRCm39)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,299,630 (GRCm39)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,610,503 (GRCm39)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 31,898,509 (GRCm39)	L443Q	probably damaging	Het
Nelfa	G	A	5: 34,060,807 (GRCm39)		probably benign	Het
Nepn	T	A	10: 52,277,353 (GRCm39)	L363Q	probably damaging	Het
Nfat5	A	G	8: 108,092,927 (GRCm39)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,041,211 (GRCm39)	V328E	probably benign	Het
Or11h4b	T	A	14: 50,918,861 (GRCm39)	I77F	probably benign	Het
Or2y1e	T	A	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or4c122	A	T	2: 89,079,469 (GRCm39)	C178S	probably damaging	Het
Or4d2b	A	T	11: 87,780,053 (GRCm39)	V223E	possibly damaging	Het
Or6c76	T	A	10: 129,612,131 (GRCm39)	M116K	probably damaging	Het
Or8d2	T	A	9: 38,759,909 (GRCm39)	C166*	probably null	Het
Otogl	A	T	10: 107,652,931 (GRCm39)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,680,465 (GRCm39)	Y236*	probably null	Het
Prelid1	C	T	13: 55,472,156 (GRCm39)	R111*	probably null	Het
Prpf8	T	C	11: 75,394,270 (GRCm39)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,138,230 (GRCm39)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,138,283 (GRCm39)	T396A	possibly damaging	Het
Rab3il1	T	C	19: 10,005,728 (GRCm39)	L174P	probably damaging	Het
Rab4a	T	C	8: 124,550,574 (GRCm39)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,302,628 (GRCm39)	M1273L	possibly damaging	Het
Slco3a1	T	C	7: 73,996,382 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,924,371 (GRCm39)	T343A	probably benign	Het
Syt11	A	G	3: 88,669,776 (GRCm39)	C39R	probably damaging	Het
Tll2	G	T	19: 41,093,429 (GRCm39)	D462E	probably damaging	Het
Tmem132e	T	A	11: 82,329,164 (GRCm39)	V481D	probably damaging	Het
Tmem161b	C	T	13: 84,399,439 (GRCm39)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,428,578 (GRCm39)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,213,140 (GRCm39)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 52,994,784 (GRCm39)	D238E	probably damaging	Het
Zfp112	G	A	7: 23,826,453 (GRCm39)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,830,946 (GRCm39)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,791,544 (GRCm39)	E39G	probably benign	Het
Zfp865	A	G	7: 5,032,090 (GRCm39)	H25R	possibly damaging	Het

Other mutations in Sdhc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02531:Sdhc	APN	1	170,963,587 (GRCm39)	missense	probably damaging	1.00
IGL02931:Sdhc	APN	1	170,971,124 (GRCm39)	splice site	probably benign
R0665:Sdhc	UTSW	1	170,963,626 (GRCm39)	missense	probably damaging	1.00
R0714:Sdhc	UTSW	1	170,957,488 (GRCm39)	unclassified	probably benign
R1480:Sdhc	UTSW	1	170,973,370 (GRCm39)	missense	probably benign	0.01
R4807:Sdhc	UTSW	1	170,963,626 (GRCm39)	missense	probably damaging	1.00
R6174:Sdhc	UTSW	1	170,966,271 (GRCm39)	nonsense	probably null
R6533:Sdhc	UTSW	1	170,957,396 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TAAGCCGCTCTACTGCACTCCAAG -3'
(R):5'- AGGGATATGCTGCTTTTCTCGGAAC -3'

Sequencing Primer
(F):5'- TACTGCACTCCAAGGGGATTG -3'
(R):5'- TTTTCTCGGAACCCCAAAAAGG -3'

Posted On

2013-07-11