Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Sdhaf2'

29506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdhaf2

Ensembl Gene

ENSMUSG00000024668

Gene Name

succinate dehydrogenase complex assembly factor 2

Synonyms

0610038F07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

10477876-10502573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10494380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 110 (P110S)

Ref Sequence

ENSEMBL: ENSMUSP00000025570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025570]

AlphaFold

Q8C6I2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025570
AA Change: P110S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025570
Gene: ENSMUSG00000024668
AA Change: P110S

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Sdh5	65	138	7.6e-27	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,255,021 (GRCm39)	V112A	probably benign	Het
Atp1a4	T	A	1: 172,074,339 (GRCm39)	I305F	probably damaging	Het
AW209491	A	G	13: 14,811,660 (GRCm39)	N171S	probably damaging	Het
Bank1	G	T	3: 135,953,395 (GRCm39)	A120E	probably damaging	Het
Bdp1	T	A	13: 100,234,087 (GRCm39)	E206D	possibly damaging	Het
Brd1	T	C	15: 88,613,612 (GRCm39)	K428E	possibly damaging	Het
Ccdc42	A	G	11: 68,485,447 (GRCm39)	I191V	probably benign	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cpm	T	G	10: 117,511,971 (GRCm39)	I305S	probably damaging	Het
Cracd	A	G	5: 77,006,833 (GRCm39)	T1065A	unknown	Het
Dlc1	A	T	8: 37,405,368 (GRCm39)	S140R	probably benign	Het
Dnajc14	A	G	10: 128,653,188 (GRCm39)	T674A	probably benign	Het
Dnajc7	A	G	11: 100,475,111 (GRCm39)	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,433,828 (GRCm39)	V147E	probably damaging	Het
Gpr139	A	G	7: 118,783,510 (GRCm39)	C30R	probably benign	Het
Habp4	A	G	13: 64,321,885 (GRCm39)	D174G	probably damaging	Het
Has3	T	C	8: 107,605,231 (GRCm39)	F479S	probably benign	Het
Helb	T	A	10: 119,946,889 (GRCm39)	K141N	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,221,956 (GRCm39)	R465H	probably benign	Het
Lrrc57	A	T	2: 120,436,532 (GRCm39)	M86K	possibly damaging	Het
Map7d1	A	G	4: 126,132,398 (GRCm39)	V258A	probably damaging	Het
Mtcl2	T	G	2: 156,882,625 (GRCm39)	M476L	probably damaging	Het
Mybbp1a	T	A	11: 72,334,393 (GRCm39)	F216Y	probably damaging	Het
Ncan	T	A	8: 70,561,039 (GRCm39)	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,260,626 (GRCm39)	I278T	probably damaging	Het
Or4c104	T	C	2: 88,586,500 (GRCm39)	D173G	possibly damaging	Het
Or9a4	C	T	6: 40,548,388 (GRCm39)	R23C	probably benign	Het
P4hb	G	T	11: 120,454,644 (GRCm39)	Q245K	probably benign	Het
Pcx	G	A	19: 4,670,965 (GRCm39)	V1089I	probably benign	Het
Phc3	A	T	3: 30,990,624 (GRCm39)	M498K	probably damaging	Het
Pkd1	T	A	17: 24,790,601 (GRCm39)	L1025*	probably null	Het
Slc22a20	T	C	19: 6,020,544 (GRCm39)	K538E	probably benign	Het
Spag11b	T	A	8: 19,192,656 (GRCm39)	V78D	probably damaging	Het
Tgm3	T	C	2: 129,880,294 (GRCm39)	C367R	probably damaging	Het
Unc5a	G	A	13: 55,152,327 (GRCm39)	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,486,891 (GRCm39)	L668H	probably damaging	Het
Wdr62	G	A	7: 29,964,643 (GRCm39)	T367I	probably damaging	Het
Wdr62	G	A	7: 29,942,231 (GRCm39)	P603S	probably damaging	Het
Xab2	G	A	8: 3,661,723 (GRCm39)	R577W	probably damaging	Het

Other mutations in Sdhaf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0504:Sdhaf2	UTSW	19	10,494,383 (GRCm39)	missense	probably damaging	0.96
R4296:Sdhaf2	UTSW	19	10,502,439 (GRCm39)	missense	probably benign	0.03
R5513:Sdhaf2	UTSW	19	10,494,394 (GRCm39)	missense	probably damaging	1.00
R9616:Sdhaf2	UTSW	19	10,494,689 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17