Mutagenetix > Incidental Mutation

Incidental Mutation 'R2267:Etfa'

242139

Institutional Source

Beutler Lab

Gene Symbol

Etfa

Ensembl Gene

ENSMUSG00000032314

Gene Name

electron transferring flavoprotein, alpha polypeptide

Synonyms

2010200I21Rik, D9Ertd394e

MMRRC Submission

040267-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R2267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55361792-55419527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55394015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 212 (L212Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034866]

AlphaFold

Q99LC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034866
AA Change: L212Q

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

SMART Domains

Protein: ENSMUSP00000034866
Gene: ENSMUSG00000032314
AA Change: L212Q

Domain	Start	End	E-Value	Type
ETF	22	203	4.71e-48	SMART
Pfam:ETF_alpha	210	293	6.4e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153186

Meta Mutation Damage Score

0.9751

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (108/110)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8b	G	A	11: 109,845,974 (GRCm39)	T820M	probably benign	Het
Acot2	C	T	12: 84,037,334 (GRCm39)	A216V	probably damaging	Het
Agap2	T	A	10: 126,918,297 (GRCm39)		probably benign	Het
Ak7	T	C	12: 105,713,473 (GRCm39)	V419A	probably benign	Het
Apmap	A	G	2: 150,430,821 (GRCm39)		probably null	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Cachd1	T	A	4: 100,806,266 (GRCm39)		probably benign	Het
Ccdc39	T	A	3: 33,869,633 (GRCm39)	E731D	probably damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgke	T	A	11: 88,943,295 (GRCm39)	E231D	probably benign	Het
Dhrs9	A	G	2: 69,223,197 (GRCm39)		probably benign	Het
Dhx30	C	T	9: 109,916,102 (GRCm39)	G662R	probably damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnah7b	T	A	1: 46,273,075 (GRCm39)	M2401K	probably damaging	Het
Dnmt3a	T	A	12: 3,947,551 (GRCm39)		probably null	Het
Dst	C	T	1: 34,334,547 (GRCm39)	T4874I	probably damaging	Het
Eef2kmt	G	A	16: 5,073,804 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,727,859 (GRCm39)	T107A	probably damaging	Het
Exosc5	T	C	7: 25,363,809 (GRCm39)	L107P	possibly damaging	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fam186b	T	G	15: 99,183,524 (GRCm39)	D40A	probably damaging	Het
Fga	T	C	3: 82,940,257 (GRCm39)	L637P	probably damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gcc1	A	G	6: 28,418,498 (GRCm39)	S612P	probably benign	Het
Gjd3	C	T	11: 98,873,227 (GRCm39)	V206M	probably damaging	Het
Gpam	A	T	19: 55,061,142 (GRCm39)		probably null	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Gphb5	C	G	12: 75,459,720 (GRCm39)	V92L	probably benign	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
Gsdmc	T	C	15: 63,648,647 (GRCm39)	E429G	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hmcn1	T	C	1: 150,474,761 (GRCm39)	S4709G	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnt2	G	A	1: 140,501,421 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Klrb1	A	T	6: 128,699,937 (GRCm39)	S25T	probably damaging	Het
L3mbtl3	C	T	10: 26,207,755 (GRCm39)	W321*	probably null	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrtm1	C	A	6: 77,220,996 (GRCm39)	A151E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mcc	T	C	18: 44,652,608 (GRCm39)	D272G	probably damaging	Het
Mgst3	T	A	1: 167,201,368 (GRCm39)	T106S	probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mlh3	G	T	12: 85,307,585 (GRCm39)	H1181N	possibly damaging	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mro	T	C	18: 74,006,368 (GRCm39)	I104T	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Neurod2	C	A	11: 98,218,582 (GRCm39)	C194F	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Nup205	T	C	6: 35,218,284 (GRCm39)	S1819P	possibly damaging	Het
Obsl1	T	C	1: 75,482,342 (GRCm39)	H176R	probably damaging	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or7g21	A	T	9: 19,032,737 (GRCm39)	H162L	probably benign	Het
Or8d2b	A	G	9: 38,789,359 (GRCm39)	T296A	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Plxnd1	A	G	6: 115,939,704 (GRCm39)	V1425A	probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Ptpn12	A	T	5: 21,203,409 (GRCm39)	N456K	probably damaging	Het
Scarb1	A	T	5: 125,364,439 (GRCm39)	S97T	possibly damaging	Het
Scyl1	C	T	19: 5,811,749 (GRCm39)	D440N	possibly damaging	Het
Sema5a	C	A	15: 32,575,065 (GRCm39)	T391K	probably benign	Het
Sipa1l3	T	A	7: 29,099,027 (GRCm39)	N414I	probably damaging	Het
Skint6	T	C	4: 112,700,019 (GRCm39)		probably null	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spib	T	A	7: 44,178,348 (GRCm39)	M141L	probably benign	Het
Srebf1	A	G	11: 60,097,973 (GRCm39)	S44P	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Taf15	T	G	11: 83,388,088 (GRCm39)	S200R	probably damaging	Het
Tanc1	G	A	2: 59,667,563 (GRCm39)		probably null	Het
Tas2r134	A	G	2: 51,518,249 (GRCm39)	T243A	probably benign	Het
Tatdn1	A	T	15: 58,777,601 (GRCm39)	M218K	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmprss11d	A	G	5: 86,521,208 (GRCm39)	Y2H	probably benign	Het
Trps1	G	A	15: 50,685,794 (GRCm39)	R544C	probably damaging	Het
Ttc22	T	C	4: 106,496,282 (GRCm39)	V444A	possibly damaging	Het
Ttc28	A	G	5: 111,373,869 (GRCm39)	T1071A	possibly damaging	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Ube2j1	T	A	4: 33,049,943 (GRCm39)	F257I	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Wwp1	T	C	4: 19,638,618 (GRCm39)	D575G	probably damaging	Het

Other mutations in Etfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02214:Etfa	APN	9	55,372,095 (GRCm39)	missense	probably damaging	1.00
IGL02471:Etfa	APN	9	55,393,984 (GRCm39)	critical splice donor site	probably null
IGL03068:Etfa	APN	9	55,394,766 (GRCm39)	missense	probably benign
R0944:Etfa	UTSW	9	55,396,122 (GRCm39)	missense	probably damaging	1.00
R2913:Etfa	UTSW	9	55,389,613 (GRCm39)	missense	probably damaging	1.00
R4528:Etfa	UTSW	9	55,407,334 (GRCm39)	missense	probably damaging	1.00
R4769:Etfa	UTSW	9	55,403,051 (GRCm39)	missense	possibly damaging	0.57
R5055:Etfa	UTSW	9	55,407,417 (GRCm39)	missense	probably damaging	1.00
R5089:Etfa	UTSW	9	55,396,150 (GRCm39)	nonsense	probably null
R5402:Etfa	UTSW	9	55,362,023 (GRCm39)	missense	probably benign
R6141:Etfa	UTSW	9	55,372,103 (GRCm39)	missense	probably damaging	1.00
R6363:Etfa	UTSW	9	55,407,417 (GRCm39)	missense	probably damaging	1.00
R6574:Etfa	UTSW	9	55,402,910 (GRCm39)	missense	probably damaging	1.00
R6835:Etfa	UTSW	9	55,403,103 (GRCm39)	missense	probably benign
R9300:Etfa	UTSW	9	55,396,152 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGCAACTTACCAACTTCTG -3'
(R):5'- TATCAACTTCTCAAGAGTCGTACCC -3'

Sequencing Primer
(F):5'- GATTCAGTTCTACAGCAGTATAGAGC -3'
(R):5'- CTCAAGAGTCGTACCCTCTTAAC -3'

Posted On

2014-10-16