Mutagenetix > Incidental Mutation

Incidental Mutation 'R5079:Etfdh'

387006

Institutional Source

Beutler Lab

Gene Symbol

Etfdh

Ensembl Gene

ENSMUSG00000027809

Gene Name

electron transferring flavoprotein, dehydrogenase

Synonyms

0610010I20Rik

MMRRC Submission

042668-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79511095-79536074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79525705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 111 (Y111C)

Ref Sequence

ENSEMBL: ENSMUSP00000113888 (fasta)

Gene Model

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

AlphaFold

Q921G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029386
AA Change: Y171C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: Y171C

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 damaging
Transcript: ENSMUST00000120992
AA Change: Y111C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: Y111C

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

Meta Mutation Damage Score

0.9737

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

90% (63/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,885,196 (GRCm39)	S221G	probably benign	Het
Abca9	A	T	11: 110,036,395 (GRCm39)	F571L	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Ankrd16	A	G	2: 11,783,710 (GRCm39)	D104G	probably damaging	Het
Bpifc	T	C	10: 85,817,168 (GRCm39)	D230G	probably damaging	Het
Casc3	C	T	11: 98,701,252 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,965,153 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,756,014 (GRCm39)		probably null	Het
Crisp1	A	T	17: 40,619,867 (GRCm39)		probably null	Het
Crybg2	T	C	4: 133,801,564 (GRCm39)	I908T	possibly damaging	Het
Csn3	T	C	5: 88,077,626 (GRCm39)	V44A	possibly damaging	Het
Dipk1c	A	T	18: 84,748,702 (GRCm39)	H100L	probably benign	Het
Dop1a	T	A	9: 86,369,474 (GRCm39)	D102E	probably damaging	Het
Fat3	T	C	9: 15,910,423 (GRCm39)	S1860G	probably benign	Het
Gba2	G	T	4: 43,568,640 (GRCm39)		probably benign	Het
Ggta1	A	G	2: 35,312,249 (GRCm39)	I43T	possibly damaging	Het
Glb1l2	T	C	9: 26,682,405 (GRCm39)	I149V	probably benign	Het
Gm5084	T	A	13: 60,360,639 (GRCm39)		noncoding transcript	Het
Gm5591	G	T	7: 38,221,560 (GRCm39)	P170T	probably benign	Het
Gucy2d	A	T	7: 98,107,475 (GRCm39)		probably null	Het
Itpr3	T	C	17: 27,317,397 (GRCm39)	F851L	probably damaging	Het
Kat2b	T	A	17: 53,970,666 (GRCm39)	I684N	probably damaging	Het
Klra17	C	A	6: 129,849,159 (GRCm39)	K138N	possibly damaging	Het
Lrrc4	T	A	6: 28,830,769 (GRCm39)	H282L	possibly damaging	Het
Lyst	T	C	13: 13,931,938 (GRCm39)	I3522T	probably benign	Het
Man2c1	A	G	9: 57,044,000 (GRCm39)	T312A	probably damaging	Het
Mapkbp1	A	G	2: 119,844,214 (GRCm39)	R313G	probably damaging	Het
N4bp2	G	A	5: 65,969,320 (GRCm39)	G1361R	probably damaging	Het
Nbas	A	T	12: 13,424,712 (GRCm39)	I984F	probably damaging	Het
Ncor1	T	A	11: 62,236,063 (GRCm39)	Q579L	possibly damaging	Het
Nme9	A	G	9: 99,341,755 (GRCm39)	Y35C	probably damaging	Het
Or5w13	C	A	2: 87,523,552 (GRCm39)	V225F	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Paxbp1	C	A	16: 90,822,034 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 82,025,863 (GRCm39)	S1530*	probably null	Het
Pogk	A	G	1: 166,226,733 (GRCm39)	W473R	probably damaging	Het
Pot1b	A	T	17: 55,976,801 (GRCm39)	S374T	probably benign	Het
Rcn1	A	G	2: 105,229,402 (GRCm39)	F50S	probably damaging	Het
Rcvrn	T	A	11: 67,593,767 (GRCm39)	I186N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror1	T	A	4: 100,298,619 (GRCm39)	I664N	probably damaging	Het
Sall2	G	T	14: 52,552,211 (GRCm39)	A326E	probably damaging	Het
Sh2d6	G	A	6: 72,496,833 (GRCm39)	P66S	probably benign	Het
Slc6a20b	T	A	9: 123,427,563 (GRCm39)	S449C	probably damaging	Het
Slc9a3	A	T	13: 74,312,406 (GRCm39)	N668Y	probably damaging	Het
Slco1a8	A	C	6: 141,918,073 (GRCm39)	I601R	probably benign	Het
Sorcs2	T	G	5: 36,200,796 (GRCm39)	K584T	probably damaging	Het
Stam	T	C	2: 14,079,350 (GRCm39)	M8T	probably benign	Het
Styk1	G	A	6: 131,278,676 (GRCm39)	P333S	probably damaging	Het
Sycp1	A	G	3: 102,786,116 (GRCm39)	C589R	possibly damaging	Het
Tas2r123	A	G	6: 132,824,681 (GRCm39)	I193V	probably benign	Het
Tnks1bp1	C	A	2: 84,892,970 (GRCm39)	Q304K	probably damaging	Het
Traf3ip2	T	C	10: 39,502,473 (GRCm39)	L207P	probably damaging	Het
Usp49	A	G	17: 47,984,146 (GRCm39)	S384G	possibly damaging	Het
Vezt	T	C	10: 93,856,486 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,866,253 (GRCm39)	M11I	probably benign	Het
Vmn2r39	A	G	7: 9,026,489 (GRCm39)	V504A	probably benign	Het
Wapl	G	A	14: 34,446,714 (GRCm39)	A607T	probably damaging	Het
Zfp638	A	G	6: 83,906,438 (GRCm39)	N201S	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAACAGAAGAAATTCAGTTCCTC -3'
(R):5'- AAAGAGCCTTGAAAGCCAGC -3'

Sequencing Primer
(F):5'- CAGAAGAAATTCAGTTCCTCTTTGG -3'
(R):5'- GCCAGCCAGGAATTTTTAATTTCAGG -3'

Posted On

2016-06-06