Mutagenetix > Incidental Mutations

Incidental Mutation 'R2083:Etfb'

230148

Institutional Source

Beutler Lab

Gene Symbol

Etfb

Ensembl Gene

ENSMUSG00000004610

Gene Name

electron transferring flavoprotein, beta polypeptide

Synonyms

0610009I16Rik, 2810441H06Rik

MMRRC Submission

040088-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.726) question?

Stock #

R2083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43444083-43457800 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43456500 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 101 (T101A)

Ref Sequence

ENSEMBL: ENSMUSP00000145608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004729] [ENSMUST00000203633] [ENSMUST00000204680] [ENSMUST00000206196] [ENSMUST00000206286]

Predicted Effect

probably benign
Transcript: ENSMUST00000004729
AA Change: T154A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004729
Gene: ENSMUSG00000004610
AA Change: T154A

Domain	Start	End	E-Value	Type
ETF	26	218	4.15e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184167

Predicted Effect

probably benign
Transcript: ENSMUST00000203633
AA Change: T154A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482
AA Change: T154A

Domain	Start	End	E-Value	Type
ETF	26	216	2.7e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204680

SMART Domains

Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482

Domain	Start	End	E-Value	Type
ETF	26	168	2.4e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205363

Predicted Effect

probably benign
Transcript: ENSMUST00000206196
AA Change: T154A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206286
AA Change: T101A

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

Predicted Effect

unknown
Transcript: ENSMUST00000206411
AA Change: T153A

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	A	5: 146,184,871	M73L	possibly damaging	Het
AA986860	A	T	1: 130,741,069	I58F	probably damaging	Het
Acsl3	A	T	1: 78,699,811	K507N	probably damaging	Het
Adcy3	T	C	12: 4,173,512	Y245H	probably damaging	Het
Adgra1	T	C	7: 139,875,631	S392P	probably damaging	Het
Ahnak	C	T	19: 9,011,557	P3402S	probably damaging	Het
Ambra1	T	A	2: 91,766,600	I12N	possibly damaging	Het
Atp10b	A	G	11: 43,212,423	T545A	probably benign	Het
Atxn2	G	T	5: 121,784,006	A638S	probably benign	Het
Cd109	T	C	9: 78,667,293	S520P	probably damaging	Het
Col6a3	T	C	1: 90,782,011	D1821G	unknown	Het
Cyp4a10	T	C	4: 115,525,308	V265A	possibly damaging	Het
Dmrtb1	C	T	4: 107,683,612	R184Q	possibly damaging	Het
Dnah7b	A	T	1: 46,241,067	I2719F	possibly damaging	Het
En2	T	C	5: 28,167,073	S183P	probably damaging	Het
Etl4	T	A	2: 20,743,549	S364T	probably damaging	Het
Fam196b	A	G	11: 34,402,141	D61G	probably benign	Het
Gm17728	C	A	17: 9,422,289	S77Y	possibly damaging	Het
Golga4	A	G	9: 118,532,590	E221G	probably damaging	Het
Gpr37	T	C	6: 25,688,417	N227S	possibly damaging	Het
Kctd1	A	T	18: 14,974,055	N784K	possibly damaging	Het
Klhl22	A	G	16: 17,776,525	T173A	probably benign	Het
Ly6e	T	A	15: 74,958,319	C41S	probably damaging	Het
Mapkbp1	T	C	2: 120,015,482	L444P	possibly damaging	Het
Mkx	A	T	18: 6,992,855	I143K	probably damaging	Het
Mlh3	A	G	12: 85,269,041	F124L	probably benign	Het
Nlrp1a	A	T	11: 71,124,220	L68H	possibly damaging	Het
Obscn	A	C	11: 59,073,631	Y726*	probably null	Het
Olfr1312	C	T	2: 112,042,553	V160I	probably benign	Het
Olfr26	T	G	9: 38,855,341	V93G	probably benign	Het
Peak1	G	A	9: 56,258,949	S565L	probably damaging	Het
Pter	T	A	2: 12,978,436	L84Q	probably damaging	Het
Ptpn4	A	G	1: 119,687,759	L555P	possibly damaging	Het
Rpp40	A	T	13: 35,898,992	M171K	probably benign	Het
Sacs	A	G	14: 61,206,506	I2000M	possibly damaging	Het
Scn5a	T	C	9: 119,492,123	I1458V	probably benign	Het
Slc38a4	T	C	15: 97,008,993	D288G	probably benign	Het
Slc8a2	T	G	7: 16,134,515	V224G	probably damaging	Het
Sptbn4	T	C	7: 27,428,256	E173G	probably benign	Het
Tas1r1	T	A	4: 152,028,391	H735L	probably benign	Het
Trps1	G	T	15: 50,822,305	Q155K	probably damaging	Het
Tspyl5	T	C	15: 33,686,746	H351R	probably damaging	Het
Ttf2	A	T	3: 100,969,501	D21E	probably benign	Het
Ttll7	A	G	3: 146,930,104	R398G	possibly damaging	Het
Tubgcp6	A	T	15: 89,122,376	Y148N	probably damaging	Het
Vmn1r8	T	A	6: 57,036,340	H125Q	probably benign	Het
Zfhx4	A	G	3: 5,403,163	T2794A	possibly damaging	Het
Zfp27	T	C	7: 29,894,783	I586V	probably benign	Het
Zfyve16	T	C	13: 92,524,262	D13G	probably damaging	Het

Other mutations in Etfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Etfb	APN	7	43452959	critical splice donor site	probably null
IGL01782:Etfb	APN	7	43454542	missense	probably damaging	0.97
IGL03264:Etfb	APN	7	43452473	missense	probably damaging	1.00
R0547:Etfb	UTSW	7	43454578	nonsense	probably null
R1999:Etfb	UTSW	7	43454563	missense	probably benign	0.01
R4229:Etfb	UTSW	7	43456560	missense	probably damaging	1.00
R4731:Etfb	UTSW	7	43444200	missense	probably damaging	1.00
R4732:Etfb	UTSW	7	43444200	missense	probably damaging	1.00
R4733:Etfb	UTSW	7	43444200	missense	probably damaging	1.00
R6366:Etfb	UTSW	7	43452941	missense	probably damaging	1.00
R6993:Etfb	UTSW	7	43456554	missense	possibly damaging	0.88
R7493:Etfb	UTSW	7	43454576	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACCAGAGTTTGCAGTG -3'
(R):5'- CATCCAATCACTGAGGAGGCAC -3'

Sequencing Primer
(F):5'- CACCAGAGTTTGCAGTGCTGTG -3'
(R):5'- TCACTGAGGAGGCACCAAGTC -3'

Posted On

2014-09-18