Mutagenetix > Incidental Mutations

Incidental Mutation 'R0555:Etfdh'

45439

Institutional Source

Beutler Lab

Gene Symbol

Etfdh

Ensembl Gene

ENSMUSG00000027809

Gene Name

electron transferring flavoprotein, dehydrogenase

Synonyms

0610010I20Rik

MMRRC Submission

038747-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79603788-79629500 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79605805 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 370 (H370Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029382] [ENSMUST00000029386] [ENSMUST00000120992]

Predicted Effect

probably benign
Transcript: ENSMUST00000029382

SMART Domains

Protein: ENSMUSP00000029382
Gene: ENSMUSG00000027804

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	19	183	1.5e-49	PFAM
low complexity region	208	222	N/A	INTRINSIC
TPR	223	256	1.78e-1	SMART
TPR	273	306	2.59e-3	SMART
TPR	307	340	2.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029386
AA Change: H430Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: H430Q

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: H370Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: H370Q

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: ENSMUST00000160799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195767

Meta Mutation Damage Score

0.0655

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,847,571	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,161,453	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130	E319G	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		probably benign	Het

Other mutations in Etfdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Etfdh	APN	3	79612061	splice site	probably benign
IGL02231:Etfdh	APN	3	79618393	missense	probably damaging	1.00
IGL02414:Etfdh	APN	3	79604096	missense	probably damaging	0.99
IGL02816:Etfdh	APN	3	79622805	missense	probably damaging	1.00
PIT4142001:Etfdh	UTSW	3	79609867	missense	probably damaging	1.00
R0329:Etfdh	UTSW	3	79609844	missense	probably benign
R2255:Etfdh	UTSW	3	79604042	missense	probably benign	0.10
R3040:Etfdh	UTSW	3	79604919	missense	probably damaging	1.00
R4035:Etfdh	UTSW	3	79613711	missense	probably benign	0.01
R4064:Etfdh	UTSW	3	79605791	missense	possibly damaging	0.90
R4693:Etfdh	UTSW	3	79605803	missense	probably damaging	0.97
R4995:Etfdh	UTSW	3	79605788	missense	probably benign	0.03
R5079:Etfdh	UTSW	3	79618398	missense	probably damaging	1.00
R5138:Etfdh	UTSW	3	79623573	missense	probably benign	0.31
R5756:Etfdh	UTSW	3	79613756	missense	probably benign
R5762:Etfdh	UTSW	3	79615954	missense	probably null	1.00
R5824:Etfdh	UTSW	3	79609945	missense	probably damaging	1.00
R5906:Etfdh	UTSW	3	79604115	missense	probably damaging	1.00
R6165:Etfdh	UTSW	3	79604944	missense	probably benign
R6185:Etfdh	UTSW	3	79605807	missense	probably benign	0.00
R6228:Etfdh	UTSW	3	79612029	nonsense	probably null
R6993:Etfdh	UTSW	3	79612031	missense	probably benign	0.43
R7559:Etfdh	UTSW	3	79623579	missense	probably damaging	1.00
R7560:Etfdh	UTSW	3	79623579	missense	probably damaging	1.00
R7562:Etfdh	UTSW	3	79623579	missense	probably damaging	1.00
R7937:Etfdh	UTSW	3	79609816	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGTGAGCAGCCATGTAGCCTGAG -3'
(R):5'- ACTTAAGGTGTTCTTGCCTACTGTGC -3'

Sequencing Primer
(F):5'- ATGTAGCCTGAGGTTCCTAACAC -3'
(R):5'- TGCATAAAGCCCCAGTGCC -3'

Posted On

2013-06-11