Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:Sdha'

592527

Institutional Source

Beutler Lab

Gene Symbol

Sdha

Ensembl Gene

ENSMUSG00000021577

Gene Name

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

Synonyms

FP, SDHF, 2310034D06Rik, SDH2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74470374-74498359 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74481172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 345 (R345*)

Ref Sequence

ENSEMBL: ENSMUSP00000022062 (fasta)

Gene Model

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

AlphaFold

Q8K2B3

Predicted Effect

probably null
Transcript: ENSMUST00000022062
AA Change: R345*

SMART Domains

Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
AA Change: R345*

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

probably benign
Transcript: ENSMUST00000221594

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,349 (GRCm39)	R2699*	probably null	Het
Adra2a	G	A	19: 54,035,375 (GRCm39)	V244M	probably damaging	Het
Apba2	A	G	7: 64,344,845 (GRCm39)	S12G	probably benign	Het
Arhgap20	T	A	9: 51,751,698 (GRCm39)	M383K	probably damaging	Het
Armc12	T	C	17: 28,756,865 (GRCm39)	V210A	probably benign	Het
Ash1l	A	T	3: 88,950,500 (GRCm39)	H2131L	probably damaging	Het
Atg5	T	C	10: 44,223,035 (GRCm39)	L219P	probably damaging	Het
Atp2c2	A	T	8: 120,474,915 (GRCm39)	M507L	probably benign	Het
Atr	T	A	9: 95,767,515 (GRCm39)	L1191I	probably damaging	Het
B4galt5	T	C	2: 167,146,998 (GRCm39)	T279A	probably damaging	Het
Bglap2	T	C	3: 88,285,280 (GRCm39)	E62G	probably damaging	Het
Card6	A	G	15: 5,127,926 (GRCm39)	S1157P	unknown	Het
Ccdc17	T	C	4: 116,454,962 (GRCm39)		probably null	Het
Cdc6	T	A	11: 98,810,191 (GRCm39)	L500*	probably null	Het
Dst	G	T	1: 34,208,403 (GRCm39)		probably null	Het
Fbxw7	C	T	3: 84,811,373 (GRCm39)	T166I		Het
Fer1l6	T	C	15: 58,474,139 (GRCm39)	V955A	probably benign	Het
Fezf2	T	C	14: 12,344,941 (GRCm38)	E82G	probably benign	Het
Flii	T	C	11: 60,610,971 (GRCm39)	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,804,854 (GRCm39)	T476A	probably benign	Het
Gbp3	C	T	3: 142,266,264 (GRCm39)		probably benign	Het
Hebp2	T	C	10: 18,421,547 (GRCm39)		probably benign	Het
Hhipl2	T	A	1: 183,204,951 (GRCm39)	M88K	possibly damaging	Het
Hip1	A	G	5: 135,459,171 (GRCm39)	C605R	probably benign	Het
Hoxd13	T	C	2: 74,498,909 (GRCm39)	S86P	probably benign	Het
Hspa12a	G	T	19: 58,849,317 (GRCm39)	A2E	probably benign	Het
Il1rl1	A	C	1: 40,485,864 (GRCm39)	*338C	probably null	Het
Lrrc37a	G	T	11: 103,390,464 (GRCm39)	P1654T	probably benign	Het
Mybpc3	A	T	2: 90,959,376 (GRCm39)	D704V	probably benign	Het
Napsa	A	T	7: 44,231,130 (GRCm39)	K120*	probably null	Het
Nat3	A	C	8: 68,000,139 (GRCm39)	Y6S	probably damaging	Het
Negr1	C	T	3: 156,774,823 (GRCm39)	Q180*	probably null	Het
Nynrin	T	A	14: 56,107,693 (GRCm39)	D933E	probably benign	Het
Or10al3	T	A	17: 38,011,957 (GRCm39)	I132K	probably damaging	Het
Or10c1	A	T	17: 37,522,386 (GRCm39)	Y119*	probably null	Het
Or2l5	G	A	16: 19,333,678 (GRCm39)	A236V	probably benign	Het
Or6k2	A	T	1: 173,986,614 (GRCm39)	I92F	probably damaging	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Or8c16	T	A	9: 38,130,324 (GRCm39)	N65K	probably damaging	Het
Or9s23	C	T	1: 92,500,983 (GRCm39)	T30I	not run	Het
Pbx1	A	T	1: 168,030,995 (GRCm39)	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,144,605 (GRCm39)	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,558,593 (GRCm39)	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,195,983 (GRCm39)	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm2	G	A	5: 124,261,632 (GRCm39)	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,699,788 (GRCm39)	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837 (GRCm38)	D16G	probably benign	Het
Pth2r	C	A	1: 65,427,605 (GRCm39)	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,705,928 (GRCm39)	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,664,245 (GRCm39)	Q1702L	probably benign	Het
Sars2	A	G	7: 28,446,176 (GRCm39)	Y135C	probably benign	Het
Selp	A	T	1: 163,961,525 (GRCm39)	S413C	probably damaging	Het
Sirt2	G	A	7: 28,484,835 (GRCm39)	C221Y	probably damaging	Het
Skic2	A	T	17: 35,067,140 (GRCm39)	S100T	probably benign	Het
Socs7	C	A	11: 97,280,468 (GRCm39)	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,436,056 (GRCm39)	V151M	probably benign	Het
Srcap	A	G	7: 127,158,980 (GRCm39)	D2952G	unknown	Het
Srd5a2	A	T	17: 74,354,749 (GRCm39)	L25Q	probably damaging	Het
Srrt	A	T	5: 137,298,410 (GRCm39)	V254D	probably damaging	Het
Tap2	T	C	17: 34,424,494 (GRCm39)	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,704,815 (GRCm39)	*371R	probably null	Het
Tm9sf3	A	T	19: 41,209,743 (GRCm39)	F441I	probably damaging	Het
Tmem259	C	T	10: 79,814,414 (GRCm39)	R314Q	probably damaging	Het
Trim28	G	T	7: 12,762,040 (GRCm39)	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,562,829 (GRCm39)	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube2v2	T	C	16: 15,398,964 (GRCm39)	T42A	probably benign	Het
Vmn2r-ps158	A	C	7: 42,674,163 (GRCm39)	H414P	probably damaging	Het
Zfp609	A	T	9: 65,604,456 (GRCm39)	S1342R	possibly damaging	Het
Zg16	A	T	7: 126,649,763 (GRCm39)	V66E	probably 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
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
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'- TGAGAATCTCAGCTCATACCAAG -3'
(R):5'- GAAGTAGTTTCCTAGTGCTCGTTC -3'

Sequencing Primer
(F):5'- GATGATACACTTATGTGAAGACTCTC -3'
(R):5'- TCCTAGTGCTCGTTCATTTATAAAC -3'

Posted On

2019-11-12