Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Etfdh'

53482

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 #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

79511095-79536074 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 79519368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113888 (fasta)

Gene Model

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

AlphaFold

Q921G7

Predicted Effect

probably benign
Transcript: ENSMUST00000029386

SMART Domains

Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809

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

SMART Domains

Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809

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: ENSMUST00000195767

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,279,934 (GRCm39)	R517*	probably null	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Cnbp	C	T	6: 87,822,682 (GRCm39)	R27H	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
H1f6	C	T	13: 23,880,032 (GRCm39)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Or5h22	T	A	16: 58,894,793 (GRCm39)	T217S	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,404,740 (GRCm39)	D202G	probably damaging	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,916,563 (GRCm39)	Q915*	probably null	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	probably benign	Het

Other mutations in Etfdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02231:Etfdh	APN	3	79,525,700 (GRCm39)	missense	probably damaging	1.00
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

2013-06-28