Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4354001:Sdhaf3'

554815

Institutional Source

Beutler Lab

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 #

PIT4354001 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

6956004-7039661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6956072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 16 (I16F)

Ref Sequence

ENSEMBL: ENSMUSP00000040935 (fasta)

Gene Model

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

AlphaFold

Q8BQU3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040826
AA Change: I16F

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040935
Gene: ENSMUSG00000042505
AA Change: I16F

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

1x: 92.5%
3x: 90.1%
10x: 83.2%
20x: 69.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	T	5: 62,811,392 (GRCm39)	Y1140N	probably damaging	Het
Ccdc83	A	T	7: 89,873,182 (GRCm39)	M391K	probably benign	Het
Cntnap1	A	T	11: 101,072,123 (GRCm39)	I459F	probably damaging	Het
Cr2	T	A	1: 194,848,617 (GRCm39)	Y302F	probably damaging	Het
Ctu2	A	T	8: 123,205,714 (GRCm39)	D179V	probably damaging	Het
Cubn	G	A	2: 13,473,663 (GRCm39)	Q427*	probably null	Het
Depdc7	A	G	2: 104,558,533 (GRCm39)	S163P	probably benign	Het
Eif2s3y	C	T	Y: 1,020,126 (GRCm39)	R385C	probably benign	Het
Gigyf1	A	G	5: 137,522,366 (GRCm39)	K728R	unknown	Het
Gm1587	G	A	14: 78,034,473 (GRCm39)	R32*	probably null	Het
Hjv	T	C	3: 96,435,761 (GRCm39)	C340R	probably damaging	Het
Isy1	A	G	6: 87,810,653 (GRCm39)	I53T	possibly damaging	Het
Myh8	A	T	11: 67,180,456 (GRCm39)	N564I	probably benign	Het
Neb	A	T	2: 52,135,330 (GRCm39)	I3260N	probably damaging	Het
Npc1	C	T	18: 12,344,592 (GRCm39)	G426E	probably benign	Het
Nrdc	G	A	4: 108,911,222 (GRCm39)		probably null	Het
Or2v1	G	A	11: 49,025,132 (GRCm39)	V38M	probably damaging	Het
Or4c10b	T	A	2: 89,711,852 (GRCm39)	S227R	probably benign	Het
Or4c116	C	A	2: 88,942,830 (GRCm39)	E9*	probably null	Het
Pate8	T	A	9: 36,492,597 (GRCm39)	S103C	possibly damaging	Het
Prss51	T	A	14: 64,334,546 (GRCm39)	V91D	probably damaging	Het
Qpct	A	C	17: 79,389,188 (GRCm39)	Y280S	probably benign	Het
Rbpms	A	G	8: 34,296,866 (GRCm39)	V137A	possibly damaging	Het
Rgl2	T	A	17: 34,152,914 (GRCm39)	M441K	possibly damaging	Het
Slc38a3	T	G	9: 107,534,848 (GRCm39)	N176H	probably benign	Het
Sos1	T	C	17: 80,756,785 (GRCm39)	S256G	possibly damaging	Het
Spg11	A	T	2: 121,918,666 (GRCm39)	C988S	probably damaging	Het
Sync	A	T	4: 129,200,447 (GRCm39)	Q451L	possibly damaging	Het
Tbc1d31	A	G	15: 57,831,329 (GRCm39)	Y929C	probably benign	Het
Thbs2	G	A	17: 14,910,230 (GRCm39)	T123I	probably damaging	Het
Thsd7a	A	C	6: 12,331,926 (GRCm39)		probably null	Het
Tnfrsf11a	T	C	1: 105,749,242 (GRCm39)	L220P	probably damaging	Het
Trbv13-2	G	A	6: 41,098,752 (GRCm39)	C109Y	probably damaging	Het
Ugt3a1	G	A	15: 9,306,446 (GRCm39)	W198*	probably null	Het
Usp14	G	A	18: 9,996,189 (GRCm39)	R464W	probably damaging	Het
Vmn1r2	C	T	4: 3,172,162 (GRCm39)	S27L	probably benign	Het
Vmn1r68	T	A	7: 10,261,958 (GRCm39)	N47Y	probably benign	Het
Zfc3h1	T	A	10: 115,262,944 (GRCm39)	Y1719*	probably null	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
IGL02401:Sdhaf3	APN	6	7,038,855 (GRCm39)	missense	probably benign	0.00
IGL02658:Sdhaf3	APN	6	7,038,992 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- GACAAGATTCTATGACGGACCAAAC -3'
(R):5'- TATTCCAGACGCCCTGTTTG -3'

Sequencing Primer
(F):5'- CCAAACCGGATGAAGGTCGC -3'
(R):5'- TGGGGTCTGAACTGAAAACCC -3'

Posted On

2019-06-07