Mutagenetix > Incidental Mutation

Incidental Mutation 'R4384:Sdha'

326130

Institutional Source

Beutler Lab

Gene Symbol

Sdha

Ensembl Gene

ENSMUSG00000021577

Gene Name

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

Synonyms

FP, SDHF, 2310034D06Rik, SDH2

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74470374-74498359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74475104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 579 (I579K)

Ref Sequence

ENSEMBL: ENSMUSP00000022062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022062]

AlphaFold

Q8K2B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022062
AA Change: I579K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
AA Change: I579K

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
Pfam:FAD_binding_2	63	457	1.2e-128	PFAM
Pfam:Succ_DH_flav_C	512	664	3.4e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161434

Predicted Effect

probably benign
Transcript: ENSMUST00000221594

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,805 (GRCm39)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Brip1	A	T	11: 86,039,255 (GRCm39)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,987 (GRCm39)	Q654L	probably benign	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,896,274 (GRCm39)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Ddias	G	A	7: 92,507,431 (GRCm39)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Dscam	T	A	16: 96,510,416 (GRCm39)	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,569,141 (GRCm39)		probably benign	Het
E2f8	G	A	7: 48,516,847 (GRCm39)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,476,590 (GRCm39)	H603L	probably benign	Het
Esrrg	G	A	1: 187,775,908 (GRCm39)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,599,374 (GRCm39)	R467*	probably null	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Gpat4	A	G	8: 23,664,602 (GRCm39)	I446T	probably benign	Het
Klhl12	T	G	1: 134,415,392 (GRCm39)	D435E	probably damaging	Het
Luc7l	T	C	17: 26,498,936 (GRCm39)		probably benign	Het
Marchf2	C	A	17: 33,915,167 (GRCm39)	M142I	probably benign	Het
Marf1	T	A	16: 13,960,505 (GRCm39)	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,532,344 (GRCm39)	D114G	possibly damaging	Het
Med1	G	A	11: 98,043,688 (GRCm39)		probably benign	Het
Meikin	C	T	11: 54,308,613 (GRCm39)	Q404*	probably null	Het
Myh9	A	T	15: 77,675,912 (GRCm39)		probably benign	Het
Mylip	T	C	13: 45,543,434 (GRCm39)	M1T	probably null	Het
Ncapg2	T	C	12: 116,403,497 (GRCm39)		probably null	Het
Nmd3	T	C	3: 69,631,731 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,914 (GRCm39)	L1166H	probably damaging	Het
Or1j13	A	G	2: 36,370,010 (GRCm39)	L44P	probably damaging	Het
Or8b48	T	C	9: 38,493,349 (GRCm39)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,677,272 (GRCm39)	I71T	probably damaging	Het
Rwdd3	T	C	3: 120,952,406 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,620,119 (GRCm39)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,446,116 (GRCm39)	Q273R	probably benign	Het
Sema4d	A	G	13: 51,856,919 (GRCm39)	L771P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,224,688 (GRCm39)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,347,340 (GRCm39)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,614,161 (GRCm39)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,482,427 (GRCm39)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,753,559 (GRCm39)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,246,546 (GRCm39)	S80P	probably benign	Het
Usp54	A	T	14: 20,600,153 (GRCm39)		probably null	Het
Vmn2r27	A	G	6: 124,201,115 (GRCm39)	Y281H	probably benign	Het
Vwf	T	A	6: 125,632,079 (GRCm39)	I37N	unknown	Het
Zfp329	G	A	7: 12,545,584 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,005 (GRCm39)	L91F	possibly damaging	Het

Other mutations in Sdha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0270:Sdha	UTSW	13	74,480,366 (GRCm39)	missense	probably damaging	1.00
R0480:Sdha	UTSW	13	74,475,452 (GRCm39)	missense	probably benign	0.36
R0960:Sdha	UTSW	13	74,471,303 (GRCm39)	splice site	probably benign
R1883:Sdha	UTSW	13	74,481,255 (GRCm39)	missense	probably damaging	0.98
R1884:Sdha	UTSW	13	74,481,255 (GRCm39)	missense	probably damaging	0.98
R2068:Sdha	UTSW	13	74,472,087 (GRCm39)	splice site	probably null
R3881:Sdha	UTSW	13	74,487,311 (GRCm39)	missense	probably damaging	1.00
R3894:Sdha	UTSW	13	74,482,510 (GRCm39)	missense	probably benign	0.03
R4063:Sdha	UTSW	13	74,472,077 (GRCm39)	intron	probably benign
R5046:Sdha	UTSW	13	74,475,452 (GRCm39)	missense	probably damaging	1.00
R5432:Sdha	UTSW	13	74,475,068 (GRCm39)	missense	probably damaging	0.97
R5521:Sdha	UTSW	13	74,498,218 (GRCm39)	intron	probably benign
R5645:Sdha	UTSW	13	74,471,958 (GRCm39)	critical splice donor site	probably null
R5770:Sdha	UTSW	13	74,471,239 (GRCm39)	nonsense	probably null
R5797:Sdha	UTSW	13	74,482,476 (GRCm39)	missense	probably damaging	1.00
R5920:Sdha	UTSW	13	74,475,044 (GRCm39)	critical splice donor site	probably null
R6450:Sdha	UTSW	13	74,482,412 (GRCm39)	splice site	probably null
R7677:Sdha	UTSW	13	74,481,172 (GRCm39)	nonsense	probably null
R7793:Sdha	UTSW	13	74,479,555 (GRCm39)	missense	probably damaging	1.00
R8284:Sdha	UTSW	13	74,479,416 (GRCm39)	critical splice donor site	probably null
R8912:Sdha	UTSW	13	74,475,323 (GRCm39)	intron	probably benign
R8923:Sdha	UTSW	13	74,487,179 (GRCm39)	missense	probably damaging	1.00
R9256:Sdha	UTSW	13	74,475,483 (GRCm39)	intron	probably benign
R9281:Sdha	UTSW	13	74,472,056 (GRCm39)	nonsense	probably null
R9296:Sdha	UTSW	13	74,472,062 (GRCm39)	missense	probably damaging	0.98
Z1177:Sdha	UTSW	13	74,498,312 (GRCm39)	missense	unknown
Z1177:Sdha	UTSW	13	74,487,751 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACGGGCTAACTCAAAAC -3'
(R):5'- ACCTTAGTCCATGCCTGCTG -3'

Sequencing Primer
(F):5'- AGATATTGAAGGAAAAAGTGTTCTCC -3'
(R):5'- AGTCCATGCCTGCTGTCCAG -3'

Posted On

2015-07-06