Mutagenetix > Incidental Mutations

Incidental Mutation 'R3894:Sdha'

310465

Institutional Source

Beutler Lab

Gene Symbol

Sdha

Ensembl Gene

ENSMUSG00000021577

Gene Name

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

Synonyms

SDHF, FP, 2310034D06Rik, SDH2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74322254-74350280 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74334391 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 268 (S268T)

Ref Sequence

ENSEMBL: ENSMUSP00000022062 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022062
AA Change: S268T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
AA Change: S268T

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: ENSMUST00000160667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161086

Predicted Effect

probably benign
Transcript: ENSMUST00000221594

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,853,939	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,696,398	Y457*	probably null	Het
Alpk3	C	T	7: 81,078,390	P423S	possibly damaging	Het
Aox2	A	T	1: 58,334,678		probably null	Het
Crebbp	T	C	16: 4,096,102	T1316A	probably benign	Het
Cul3	C	A	1: 80,283,690	V273F	probably damaging	Het
Dnah1	G	T	14: 31,307,028	R582S	probably benign	Het
Fbxl2	T	C	9: 114,003,193	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gdf7	A	G	12: 8,298,845	S151P	unknown	Het
Gm10277	T	C	11: 77,786,001		probably benign	Het
Hdac4	T	C	1: 91,970,968	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,443,237	E259G	probably benign	Het
Ifi204	T	C	1: 173,749,208	H609R	possibly damaging	Het
Ift80	T	C	3: 68,917,999	D541G	probably damaging	Het
Il18r1	A	T	1: 40,474,874	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mesd	T	A	7: 83,897,785	L152H	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mut	G	A	17: 40,955,139	C531Y	probably damaging	Het
Myo15	A	G	11: 60,504,319	T2480A	probably benign	Het
Olfr1284	C	A	2: 111,379,637	F212L	probably benign	Het
Olfr1317	T	C	2: 112,142,014	I23T	probably benign	Het
Olfr1387	G	A	11: 49,459,939	G87R	possibly damaging	Het
Olfr180	A	G	16: 58,916,339	F101L	probably benign	Het
Olfr437	A	T	6: 43,167,258	I67F	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcbp4	A	T	9: 106,461,371	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Rad50	T	A	11: 53,678,870	I905L	probably benign	Het
Rp1l1	T	C	14: 64,029,307	S781P	probably benign	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rtn3	T	A	19: 7,435,085	T86S	probably damaging	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,355,288	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,464,720	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,566,442	V165A	probably benign	Het
Slco3a1	A	G	7: 74,284,613	W604R	probably damaging	Het
Tet2	A	G	3: 133,469,477	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 122,921,319		probably null	Het
Tsga13	A	G	6: 30,912,263	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,329,590	T317A	probably benign	Het
Zcchc4	A	T	5: 52,784,100	D79V	probably damaging	Het

Other mutations in Sdha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0270:Sdha	UTSW	13	74332247	missense	probably damaging	1.00
R0480:Sdha	UTSW	13	74327333	missense	probably benign	0.36
R0960:Sdha	UTSW	13	74323184	splice site	probably benign
R1883:Sdha	UTSW	13	74333136	missense	probably damaging	0.98
R1884:Sdha	UTSW	13	74333136	missense	probably damaging	0.98
R2068:Sdha	UTSW	13	74323968	splice site	probably null
R3881:Sdha	UTSW	13	74339192	missense	probably damaging	1.00
R4063:Sdha	UTSW	13	74323958	intron	probably benign
R4384:Sdha	UTSW	13	74326985	missense	possibly damaging	0.89
R5046:Sdha	UTSW	13	74327333	missense	probably damaging	1.00
R5432:Sdha	UTSW	13	74326949	missense	probably damaging	0.97
R5521:Sdha	UTSW	13	74350099	intron	probably benign
R5645:Sdha	UTSW	13	74323839	critical splice donor site	probably null
R5770:Sdha	UTSW	13	74323120	nonsense	probably null
R5797:Sdha	UTSW	13	74334357	missense	probably damaging	1.00
R5920:Sdha	UTSW	13	74326925	critical splice donor site	probably null
R6450:Sdha	UTSW	13	74334293	splice site	probably null
R7677:Sdha	UTSW	13	74333053	nonsense	probably null
R7793:Sdha	UTSW	13	74331436	missense	probably damaging	1.00
R8284:Sdha	UTSW	13	74331297	critical splice donor site	probably null
Z1177:Sdha	UTSW	13	74339632	missense	probably damaging	1.00
Z1177:Sdha	UTSW	13	74350193	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAAACTCCCTGAGGACTCAAG -3'
(R):5'- CATCACAAGTATGGCCTCCC -3'

Sequencing Primer
(F):5'- TCCCTGAGGACTCAAGGTGGAG -3'
(R):5'- ACAAGTATGGCCTCCCACGTATTG -3'

Posted On

2015-04-17