Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:Sdha'

308785

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

040795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74470374-74498359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74487311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 159 (P159Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022062 (fasta)

Gene Model

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

AlphaFold

Q8K2B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022062
AA Change: P159Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
AA Change: P159Q

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: ENSMUST00000159003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161086

Predicted Effect

unknown
Transcript: ENSMUST00000221594
AA Change: P156Q

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,548,417 (GRCm39)	K44T	possibly damaging	Het
4933402N03Rik	T	C	7: 130,740,823 (GRCm39)	E131G	probably benign	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,397 (GRCm39)	S201P	probably damaging	Het
Cep95	A	G	11: 106,697,118 (GRCm39)	I257V	probably damaging	Het
Clca4a	T	C	3: 144,663,079 (GRCm39)	N590S	probably benign	Het
Cyfip2	A	G	11: 46,099,162 (GRCm39)	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,502,818 (GRCm39)	Q136L	probably benign	Het
Def6	T	C	17: 28,439,189 (GRCm39)	C267R	probably damaging	Het
Dgat2	G	A	7: 98,818,950 (GRCm39)	Q69*	probably null	Het
Dlgap1	T	A	17: 71,093,810 (GRCm39)	S710R	probably damaging	Het
Dnah10	T	C	5: 124,850,095 (GRCm39)	I1539T	probably benign	Het
Dnah2	T	A	11: 69,342,173 (GRCm39)	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,783,088 (GRCm39)	S76P	probably damaging	Het
Esr2	T	C	12: 76,214,394 (GRCm39)	D19G	probably damaging	Het
Fam13b	A	T	18: 34,595,112 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,100,262 (GRCm39)	V464D	possibly damaging	Het
Fcgbpl1	T	A	7: 27,839,463 (GRCm39)	C425*	probably null	Het
Gm21961	A	G	15: 64,886,716 (GRCm39)		probably null	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Hps5	A	G	7: 46,421,420 (GRCm39)	V648A	possibly damaging	Het
Ints4	A	G	7: 97,165,464 (GRCm39)	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,332,814 (GRCm39)	N1860S	probably benign	Het
Itsn2	G	A	12: 4,684,546 (GRCm39)		probably benign	Het
Jup	A	G	11: 100,269,207 (GRCm39)	V402A	probably benign	Het
Letm2	C	A	8: 26,083,884 (GRCm39)	E116*	probably null	Het
Ly6c1	T	C	15: 74,917,436 (GRCm39)	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,342,280 (GRCm39)	S1591N	probably benign	Het
Mier2	C	T	10: 79,384,584 (GRCm39)		probably null	Het
Mocs2	T	A	13: 114,955,882 (GRCm39)	L10*	probably null	Het
Myo6	A	G	9: 80,171,538 (GRCm39)	D513G	probably damaging	Het
Myoz2	T	C	3: 122,807,369 (GRCm39)	Y147C	probably damaging	Het
Nin	C	T	12: 70,089,315 (GRCm39)	V1367M	probably benign	Het
Nr2f6	C	T	8: 71,828,675 (GRCm39)	A200T	probably damaging	Het
Obscn	C	T	11: 58,947,775 (GRCm39)	C4418Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,550 (GRCm39)	M191V	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or5g26	T	A	2: 85,494,769 (GRCm39)	H3L	probably benign	Het
Paxip1	C	T	5: 27,953,837 (GRCm39)	R953Q	probably damaging	Het
Pcdha1	A	T	18: 37,064,454 (GRCm39)	I373F	possibly damaging	Het
Pcdha7	G	A	18: 37,108,432 (GRCm39)	E486K	probably benign	Het
Recql5	G	A	11: 115,784,780 (GRCm39)	P849L	probably benign	Het
Recql5	G	T	11: 115,784,781 (GRCm39)	P849T	probably benign	Het
Rnf180	A	T	13: 105,386,915 (GRCm39)	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,821,704 (GRCm39)	S3P	probably benign	Het
Rpp38	T	A	2: 3,330,283 (GRCm39)	R206S	probably benign	Het
Shank2	T	C	7: 143,959,121 (GRCm39)	V199A	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Timm50	C	A	7: 28,010,432 (GRCm39)	A41S	probably benign	Het
Tmbim1	A	G	1: 74,329,157 (GRCm39)		probably benign	Het
Tmprss11a	C	T	5: 86,593,664 (GRCm39)	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,331,106 (GRCm39)	H411L	probably damaging	Het
Ube4b	A	T	4: 149,449,861 (GRCm39)		probably null	Het
Zdhhc22	T	A	12: 87,030,400 (GRCm39)	M183L	probably benign	Het
Zfp106	A	G	2: 120,362,630 (GRCm39)	S830P	probably benign	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
R3894:Sdha	UTSW	13	74,482,510 (GRCm39)	missense	probably benign	0.03
R4063:Sdha	UTSW	13	74,472,077 (GRCm39)	intron	probably benign
R4384:Sdha	UTSW	13	74,475,104 (GRCm39)	missense	possibly damaging	0.89
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'- CCCATAGGATGACATTTCCACTG -3'
(R):5'- CCCTGGTAATGATGAGCCAATG -3'

Sequencing Primer
(F):5'- CATAGGATGACATTTCCACTGTTATC -3'
(R):5'- GATGAGCCAATGAGGAAAGTTTTTC -3'

Posted On

2015-04-17