Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Etfdh'

285686

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Etfdh

Ensembl Gene

ENSMUSG00000027809

Gene Name

electron transferring flavoprotein, dehydrogenase

Synonyms

0610010I20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

79511095-79536074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79525700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 173 (V173I)

Ref Sequence

ENSEMBL: ENSMUSP00000029386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029386] [ENSMUST00000120992]

AlphaFold

Q921G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029386
AA Change: V173I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: V173I

Domain	Start	End	E-Value	Type
Pfam:Thi4	57	123	5.3e-9	PFAM
Pfam:FAD_binding_2	69	120	1.7e-7	PFAM
Pfam:Lycopene_cycl	69	125	5.7e-8	PFAM
Pfam:NAD_binding_8	72	122	9.7e-8	PFAM
Pfam:ETF_QO	511	614	1.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120992
AA Change: V113I

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

SMART Domains

Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: V113I

Domain	Start	End	E-Value	Type
Pfam:Thi4	1	63	2e-8	PFAM
Pfam:FAD_binding_2	9	59	4.7e-8	PFAM
Pfam:Pyr_redox_2	9	209	1.7e-7	PFAM
Pfam:NAD_binding_9	11	56	2.1e-7	PFAM
Pfam:NAD_binding_8	12	61	2.8e-8	PFAM
Pfam:ETF_QO	402	511	3e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153039

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 component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	A	16: 52,094,413 (GRCm39)		probably benign	Het
Alox15	A	C	11: 70,240,382 (GRCm39)	D266E	probably benign	Het
Atcay	A	T	10: 81,046,382 (GRCm39)	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,683,455 (GRCm39)	G758R	possibly damaging	Het
Bltp2	G	A	11: 78,170,722 (GRCm39)	G1647D	probably benign	Het
Cacna2d4	T	A	6: 119,254,869 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,719,709 (GRCm39)	V2429A	probably damaging	Het
Clspn	T	G	4: 126,453,021 (GRCm39)	D11E	probably damaging	Het
Cnot3	A	G	7: 3,661,209 (GRCm39)	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Edem1	A	G	6: 108,805,849 (GRCm39)	D50G	probably benign	Het
Emilin3	G	A	2: 160,750,435 (GRCm39)	T438I	probably damaging	Het
Fat2	T	C	11: 55,171,918 (GRCm39)	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,292,469 (GRCm39)	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,292,470 (GRCm39)	E154V	probably damaging	Het
G3bp1	T	A	11: 55,386,273 (GRCm39)	L244*	probably null	Het
Itgae	A	T	11: 72,981,448 (GRCm39)	K2M	possibly damaging	Het
Kcnq2	T	C	2: 180,723,508 (GRCm39)	I654V	probably benign	Het
Ksr2	C	T	5: 117,638,841 (GRCm39)	R82C	probably damaging	Het
Lrig3	A	T	10: 125,833,041 (GRCm39)	D305V	probably damaging	Het
Me1	T	C	9: 86,493,908 (GRCm39)	K322E	possibly damaging	Het
Med12l	T	A	3: 59,153,303 (GRCm39)	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,772 (GRCm39)	K73E	possibly damaging	Het
Nup155	T	G	15: 8,173,548 (GRCm39)	L881R	probably damaging	Het
Ocln	A	T	13: 100,677,622 (GRCm39)	S2T	probably damaging	Het
Oosp3	T	C	19: 11,676,803 (GRCm39)	L54S	probably damaging	Het
Pkp3	G	A	7: 140,664,151 (GRCm39)	E443K	probably damaging	Het
Plk2	T	A	13: 110,536,603 (GRCm39)	C632S	probably benign	Het
Ptk6	C	T	2: 180,838,794 (GRCm39)	V320I	probably damaging	Het
Ptprt	A	T	2: 162,079,980 (GRCm39)	I273N	probably damaging	Het
Ptprt	A	G	2: 162,119,966 (GRCm39)		probably null	Het
Rab3gap2	T	C	1: 184,999,095 (GRCm39)		probably benign	Het
Rabgef1	G	A	5: 130,240,816 (GRCm39)	A312T	probably damaging	Het
Rabl6	T	A	2: 25,488,196 (GRCm39)	K109N	probably benign	Het
Rbp7	C	T	4: 149,539,334 (GRCm39)		probably null	Het
Reg3a	C	T	6: 78,359,224 (GRCm39)	H75Y	possibly damaging	Het
Rnf123	G	T	9: 107,943,598 (GRCm39)	P546T	probably benign	Het
Rnmt	C	A	18: 68,447,152 (GRCm39)	C345*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,252,236 (GRCm39)	S25N	possibly damaging	Het
Spata16	G	T	3: 26,967,413 (GRCm39)	G388W	probably damaging	Het
Speg	C	T	1: 75,400,031 (GRCm39)	R2493W	probably damaging	Het
Thada	T	A	17: 84,736,125 (GRCm39)	D970V	probably damaging	Het
Tmem184c	A	G	8: 78,331,441 (GRCm39)	Y103H	probably damaging	Het
Ttn	A	T	2: 76,628,440 (GRCm39)	D12827E	probably damaging	Het
Utp20	A	G	10: 88,627,030 (GRCm39)	L976S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp936	T	A	7: 42,836,909 (GRCm39)		probably null	Het

Other mutations in Etfdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Etfdh	APN	3	79,519,368 (GRCm39)	splice site	probably benign
IGL02414:Etfdh	APN	3	79,511,403 (GRCm39)	missense	probably damaging	0.99
IGL02816:Etfdh	APN	3	79,530,112 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Etfdh	UTSW	3	79,517,174 (GRCm39)	missense	probably damaging	1.00
R0329:Etfdh	UTSW	3	79,517,151 (GRCm39)	missense	probably benign
R0555:Etfdh	UTSW	3	79,513,112 (GRCm39)	missense	probably benign	0.01
R2255:Etfdh	UTSW	3	79,511,349 (GRCm39)	missense	probably benign	0.10
R3040:Etfdh	UTSW	3	79,512,226 (GRCm39)	missense	probably damaging	1.00
R4035:Etfdh	UTSW	3	79,521,018 (GRCm39)	missense	probably benign	0.01
R4064:Etfdh	UTSW	3	79,513,098 (GRCm39)	missense	possibly damaging	0.90
R4693:Etfdh	UTSW	3	79,513,110 (GRCm39)	missense	probably damaging	0.97
R4995:Etfdh	UTSW	3	79,513,095 (GRCm39)	missense	probably benign	0.03
R5079:Etfdh	UTSW	3	79,525,705 (GRCm39)	missense	probably damaging	1.00
R5138:Etfdh	UTSW	3	79,530,880 (GRCm39)	missense	probably benign	0.31
R5756:Etfdh	UTSW	3	79,521,063 (GRCm39)	missense	probably benign
R5762:Etfdh	UTSW	3	79,523,261 (GRCm39)	missense	probably null	1.00
R5824:Etfdh	UTSW	3	79,517,252 (GRCm39)	missense	probably damaging	1.00
R5906:Etfdh	UTSW	3	79,511,422 (GRCm39)	missense	probably damaging	1.00
R6165:Etfdh	UTSW	3	79,512,251 (GRCm39)	missense	probably benign
R6185:Etfdh	UTSW	3	79,513,114 (GRCm39)	missense	probably benign	0.00
R6228:Etfdh	UTSW	3	79,519,336 (GRCm39)	nonsense	probably null
R6993:Etfdh	UTSW	3	79,519,338 (GRCm39)	missense	probably benign	0.43
R7559:Etfdh	UTSW	3	79,530,886 (GRCm39)	missense	probably damaging	1.00
R7560:Etfdh	UTSW	3	79,530,886 (GRCm39)	missense	probably damaging	1.00
R7562:Etfdh	UTSW	3	79,530,886 (GRCm39)	missense	probably damaging	1.00
R7937:Etfdh	UTSW	3	79,517,123 (GRCm39)	missense	probably benign	0.00
R9366:Etfdh	UTSW	3	79,519,271 (GRCm39)	missense	probably benign	0.37

Posted On

2015-04-16