Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02401:Sdhaf3'

291883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdhaf3

Ensembl Gene

ENSMUSG00000042505

Gene Name

succinate dehydrogenase complex assembly factor 3

Synonyms

4933430A16Rik, Acn9, 0610005M07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02401

Quality Score

Status

Chromosome

Chromosomal Location

6956004-7039661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7038855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 59 (T59M)

Ref Sequence

ENSEMBL: ENSMUSP00000040935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040826]

AlphaFold

Q8BQU3

Predicted Effect

probably benign
Transcript: ENSMUST00000040826
AA Change: T59M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000040935
Gene: ENSMUSG00000042505
AA Change: T59M

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	63	6e-8	PFAM
Pfam:Complex1_LYR_2	9	105	3.8e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef18	C	T	8: 3,487,078 (GRCm39)	R266C	probably damaging	Het
Asb11	A	T	X: 163,241,753 (GRCm39)		probably benign	Het
Cnot1	G	A	8: 96,482,761 (GRCm39)	T764M	possibly damaging	Het
Galns	A	G	8: 123,331,938 (GRCm39)	M59T	probably damaging	Het
Gm5884	A	G	6: 128,622,377 (GRCm39)		noncoding transcript	Het
Gm9312	A	C	12: 24,302,106 (GRCm39)		noncoding transcript	Het
Lama3	T	C	18: 12,690,784 (GRCm39)	F1268S	probably benign	Het
Lrp5	A	G	19: 3,643,585 (GRCm39)	C1347R	probably damaging	Het
Lrrfip1	T	C	1: 91,042,650 (GRCm39)	S352P	probably benign	Het
Mcfd2	T	C	17: 87,564,592 (GRCm39)	T97A	probably damaging	Het
Mroh2b	A	G	15: 4,929,983 (GRCm39)	N23S	possibly damaging	Het
Nr1i3	A	T	1: 171,043,942 (GRCm39)		probably benign	Het
Or4c10b	T	C	2: 89,711,797 (GRCm39)	F209S	probably damaging	Het
Or8b48	C	T	9: 38,492,651 (GRCm39)	P26L	probably damaging	Het
Orm2	A	C	4: 63,281,568 (GRCm39)	I100L	probably benign	Het
Pbsn	A	G	X: 76,886,129 (GRCm39)	M126T	probably benign	Het
Rpgr	G	T	X: 10,024,956 (GRCm39)	T1026K	possibly damaging	Het
Shq1	T	C	6: 100,625,208 (GRCm39)	Y217C	probably damaging	Het
Slc17a8	A	T	10: 89,412,522 (GRCm39)		probably null	Het
Slc6a19	A	G	13: 73,848,709 (GRCm39)	I15T	probably damaging	Het
Smarcd3	A	T	5: 24,798,717 (GRCm39)	V335E	probably damaging	Het
Sugp2	A	G	8: 70,695,821 (GRCm39)	T265A	possibly damaging	Het
Tfrc	T	G	16: 32,435,999 (GRCm39)	S225R	probably damaging	Het
Vsig10l	T	A	7: 43,113,468 (GRCm39)	L140Q	probably damaging	Het
Zbtb46	T	A	2: 181,065,245 (GRCm39)	T302S	probably benign	Het
Znhit1	T	C	5: 137,011,513 (GRCm39)	Y105C	probably damaging	Het

Other mutations in Sdhaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Sdhaf3	APN	6	6,956,141 (GRCm39)	missense	probably damaging	1.00
IGL02658:Sdhaf3	APN	6	7,038,992 (GRCm39)	missense	probably damaging	0.99
PIT4354001:Sdhaf3	UTSW	6	6,956,072 (GRCm39)	missense	possibly damaging	0.94
R1647:Sdhaf3	UTSW	6	6,956,126 (GRCm39)	missense	probably damaging	1.00
R1693:Sdhaf3	UTSW	6	7,038,964 (GRCm39)	missense	probably benign	0.04
R2085:Sdhaf3	UTSW	6	6,956,048 (GRCm39)	missense	probably benign	0.00
R5436:Sdhaf3	UTSW	6	7,038,855 (GRCm39)	missense	probably benign	0.02
R7170:Sdhaf3	UTSW	6	6,956,043 (GRCm39)	missense	probably benign	0.07
R7561:Sdhaf3	UTSW	6	6,956,079 (GRCm39)	missense	not run
R7877:Sdhaf3	UTSW	6	7,038,855 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16