Mutagenetix > Incidental Mutation

Incidental Mutation 'R5906:Etfdh'

460609

Institutional Source

Beutler Lab

Gene Symbol

Etfdh

Ensembl Gene

ENSMUSG00000027809

Gene Name

electron transferring flavoprotein, dehydrogenase

Synonyms

0610010I20Rik

MMRRC Submission

044103-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5906 (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 79511422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 520 (I520V)

Ref Sequence

ENSEMBL: ENSMUSP00000113888 (fasta)

Gene Model

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

AlphaFold

Q921G7

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 damaging
Transcript: ENSMUST00000029386
AA Change: I580V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809
AA Change: I580V

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: I520V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809
AA Change: I520V

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

95% (81/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
9130023H24Rik	G	A	7: 127,835,664 (GRCm39)	P310S	probably benign	Het
Abcc10	G	T	17: 46,627,485 (GRCm39)	H652Q	probably benign	Het
Actl6b	A	G	5: 137,565,591 (GRCm39)	I396V	possibly damaging	Het
Acvr1b	T	C	15: 101,091,772 (GRCm39)		probably benign	Het
Adamts18	A	T	8: 114,436,251 (GRCm39)	H989Q	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Angptl3	A	G	4: 98,925,804 (GRCm39)	T377A	probably benign	Het
Ankmy2	G	A	12: 36,226,632 (GRCm39)	V109M	probably damaging	Het
Anpep	G	A	7: 79,483,423 (GRCm39)	A689V	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cacna1d	C	T	14: 29,818,917 (GRCm39)	V1213I	probably damaging	Het
Capn1	A	G	19: 6,061,451 (GRCm39)	F156L	possibly damaging	Het
Catsperb	C	A	12: 101,476,721 (GRCm39)	F408L	probably damaging	Het
Ccdc146	A	T	5: 21,506,350 (GRCm39)	L697Q	possibly damaging	Het
Cdc37l1	T	A	19: 28,989,386 (GRCm39)	V281E	probably benign	Het
Chia1	A	T	3: 106,039,304 (GRCm39)	T465S	probably benign	Het
Cidec	A	T	6: 113,405,282 (GRCm39)		probably null	Het
Clcnkb	T	C	4: 141,139,610 (GRCm39)	T131A	probably benign	Het
Clec5a	T	A	6: 40,558,793 (GRCm39)	M98L	probably benign	Het
Cnga1	A	T	5: 72,768,201 (GRCm39)	F162I	probably benign	Het
Cyp27b1	A	T	10: 126,884,267 (GRCm39)	I40F	probably damaging	Het
Edrf1	A	G	7: 133,265,144 (GRCm39)	S1027G	probably benign	Het
Entpd1	C	A	19: 40,727,283 (GRCm39)	A448E	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gabra4	G	A	5: 71,781,253 (GRCm39)	P386L	probably benign	Het
Gckr	G	T	5: 31,463,922 (GRCm39)	V281L	probably damaging	Het
Gfy	T	C	7: 44,827,167 (GRCm39)	T310A	probably benign	Het
Gjc2	C	A	11: 59,067,667 (GRCm39)	V272L	probably benign	Het
Gm13441	G	C	2: 31,777,511 (GRCm39)		silent	Het
H2-DMb2	T	A	17: 34,367,582 (GRCm39)	M1K	probably null	Het
Hipk3	T	C	2: 104,302,153 (GRCm39)	Y13C	probably damaging	Het
Kcnt1	A	T	2: 25,784,536 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,788,413 (GRCm39)	F336S	probably damaging	Het
Klhdc7b	A	G	15: 89,271,359 (GRCm39)	D747G	probably benign	Het
Krt78	T	A	15: 101,857,030 (GRCm39)	E359V	probably damaging	Het
Mast4	T	C	13: 102,872,252 (GRCm39)	D2195G	probably benign	Het
Matk	C	T	10: 81,096,753 (GRCm39)	L188F	probably damaging	Het
Mcoln2	T	C	3: 145,889,496 (GRCm39)	I399T	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nap1l1	A	T	10: 111,326,891 (GRCm39)	K151*	probably null	Het
Ncbp3	T	A	11: 72,964,327 (GRCm39)	S426T	probably benign	Het
Nisch	T	A	14: 30,893,985 (GRCm39)		probably null	Het
Or4k15b	T	C	14: 50,272,306 (GRCm39)	T185A	probably benign	Het
Or5b113	T	C	19: 13,342,369 (GRCm39)	C126R	probably damaging	Het
Or8a1b	A	G	9: 37,623,101 (GRCm39)	I158T	probably benign	Het
Or8b8	A	G	9: 37,809,174 (GRCm39)	H158R	probably damaging	Het
Peg3	T	C	7: 6,720,854 (GRCm39)	D17G	probably damaging	Het
Pkd1	G	A	17: 24,791,894 (GRCm39)	V1194M	probably benign	Het
Pkd1l2	A	T	8: 117,756,387 (GRCm39)	I1615N	probably damaging	Het
Pkd2	A	T	5: 104,625,045 (GRCm39)		probably null	Het
Pkp4	T	A	2: 59,135,420 (GRCm39)	N97K	possibly damaging	Het
Prrx2	C	T	2: 30,769,522 (GRCm39)	R78C	probably damaging	Het
Pycr1	T	A	11: 120,532,988 (GRCm39)	I91F	probably damaging	Het
Rap1a	T	C	3: 105,645,081 (GRCm39)	N87S	possibly damaging	Het
Sbk2	T	G	7: 4,960,627 (GRCm39)	Y181S	probably damaging	Het
Scart1	T	A	7: 139,808,712 (GRCm39)	D874E	probably damaging	Het
Sec16a	A	T	2: 26,328,843 (GRCm39)	H1057Q	possibly damaging	Het
Sfswap	G	A	5: 129,619,107 (GRCm39)	E486K	probably benign	Het
Shank3	T	C	15: 89,433,119 (GRCm39)	V1213A	probably damaging	Het
Slfn5	T	A	11: 82,848,102 (GRCm39)	I329K	probably benign	Het
Slit1	T	A	19: 41,594,813 (GRCm39)	N1186Y	probably damaging	Het
Ssbp3	A	G	4: 106,867,018 (GRCm39)		probably benign	Het
Steap3	T	A	1: 120,171,731 (GRCm39)	I125F	probably damaging	Het
Synpr	C	A	14: 13,608,788 (GRCm38)		probably benign	Het
Tom1	T	C	8: 75,776,886 (GRCm39)	L69P	probably damaging	Het
Traf3ip3	T	A	1: 192,880,314 (GRCm39)	D5V	possibly damaging	Het
Vmn1r29	G	A	6: 58,284,736 (GRCm39)	S152N	probably benign	Het
Vmn1r68	T	C	7: 10,261,550 (GRCm39)	I183V	probably benign	Het
Wdr17	C	G	8: 55,092,503 (GRCm39)	V1094L	probably benign	Het
Wdr95	A	G	5: 149,487,692 (GRCm39)	I109V	possibly damaging	Het
Zfp39	T	C	11: 58,793,717 (GRCm39)	D7G	probably benign	Het
Zfp512	A	T	5: 31,637,408 (GRCm39)	Q443L	probably damaging	Het
Zfp974	T	A	7: 27,610,230 (GRCm39)	K498N	possibly damaging	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
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
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'- TGTTTGAAGGACACTTGTTCAG -3'
(R):5'- TCTGGGAGTAAACATGAAAACCC -3'

Sequencing Primer
(F):5'- CATACAGGAAGTTAGTTTGGCATAC -3'
(R):5'- CCCCAAAAGTTTCCATAGTTCTAAG -3'

Posted On

2017-02-28