Mutagenetix > Incidental Mutation

Incidental Mutation 'R1396:Etf1'

162685

Institutional Source

Beutler Lab

Gene Symbol

Etf1

Ensembl Gene

ENSMUSG00000024360

Gene Name

eukaryotic translation termination factor 1

Synonyms

TB3-1, SUP45L1, ERF1

MMRRC Submission

039458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R1396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35035838-35065060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35041220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 298 (T298I)

Ref Sequence

ENSEMBL: ENSMUSP00000025218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025218]

AlphaFold

Q8BWY3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025218
AA Change: T298I

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025218
Gene: ENSMUSG00000024360
AA Change: T298I

Domain	Start	End	E-Value	Type
eRF1_1	5	141	8.02e-48	SMART
Pfam:eRF1_2	145	277	3.2e-51	PFAM
Pfam:eRF1_3	280	417	1.5e-41	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 61,001,057 (GRCm39)	P160S	probably benign	Het
Adamts12	G	T	15: 11,311,558 (GRCm39)	D1272Y	probably benign	Het
Akr1c20	A	T	13: 4,557,726 (GRCm39)	V267D	probably damaging	Het
C1s1	A	G	6: 124,508,010 (GRCm39)	S660P	probably damaging	Het
Ccdc202	A	G	14: 96,119,987 (GRCm39)	N248S	probably benign	Het
Ccdc40	A	G	11: 119,122,629 (GRCm39)	T144A	possibly damaging	Het
Cdk20	T	C	13: 64,585,217 (GRCm39)	I167T	probably damaging	Het
Chd6	A	G	2: 160,825,023 (GRCm39)	L1212S	probably damaging	Het
Clock	G	C	5: 76,414,649 (GRCm39)	D15E	probably benign	Het
Clstn2	A	G	9: 97,343,446 (GRCm39)	V667A	probably benign	Het
Cr2	A	T	1: 194,851,561 (GRCm39)		probably null	Het
Cyp2e1	A	G	7: 140,352,992 (GRCm39)	D343G	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Gm5431	T	C	11: 48,786,261 (GRCm39)		probably benign	Het
Gss	G	A	2: 155,409,641 (GRCm39)	T265I	probably damaging	Het
Heatr1	C	T	13: 12,420,927 (GRCm39)	S406L	possibly damaging	Het
Hgsnat	C	A	8: 26,447,363 (GRCm39)	M310I	possibly damaging	Het
Inpp5b	G	A	4: 124,682,873 (GRCm39)	R598H	probably damaging	Het
Ints2	G	T	11: 86,140,074 (GRCm39)	Q253K	probably damaging	Het
Kng1	A	G	16: 22,897,730 (GRCm39)	M377V	probably benign	Het
Krt72	C	T	15: 101,694,440 (GRCm39)		probably null	Het
Lemd2	G	C	17: 27,409,706 (GRCm39)	R482G	probably damaging	Het
Lrpprc	C	T	17: 85,033,731 (GRCm39)	D1049N	possibly damaging	Het
Lrrc49	A	T	9: 60,587,810 (GRCm39)	H117Q	probably damaging	Het
Mcm6	A	T	1: 128,279,213 (GRCm39)	F191Y	probably damaging	Het
Mecom	T	C	3: 30,033,949 (GRCm39)	T252A	possibly damaging	Het
Mgat4e	T	C	1: 134,469,271 (GRCm39)	T258A	probably benign	Het
Mpeg1	A	G	19: 12,440,168 (GRCm39)	N542S	probably damaging	Het
Nln	C	T	13: 104,198,261 (GRCm39)	V184I	probably benign	Het
Nova1	A	C	12: 46,863,676 (GRCm39)	F91L	unknown	Het
Polk	T	C	13: 96,620,716 (GRCm39)	I516V	probably benign	Het
Ppig	C	T	2: 69,579,362 (GRCm39)	P357S	unknown	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rasal2	A	T	1: 156,992,236 (GRCm39)	H552Q	probably damaging	Het
Rnf41	G	A	10: 128,271,440 (GRCm39)	E117K	probably benign	Het
Sbk3	A	G	7: 4,970,452 (GRCm39)	Y306H	possibly damaging	Het
Senp1	A	G	15: 97,974,435 (GRCm39)	S126P	probably benign	Het
Sfr1	A	G	19: 47,722,129 (GRCm39)	K182E	probably benign	Het
Slc25a4	C	A	8: 46,662,325 (GRCm39)	R111L	probably damaging	Het
Slc9c1	A	T	16: 45,393,710 (GRCm39)	Y551F	probably benign	Het
Stard4	A	T	18: 33,339,263 (GRCm39)	N80K	probably damaging	Het
Tbk1	G	A	10: 121,407,821 (GRCm39)	T104M	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tmem102	A	T	11: 69,695,196 (GRCm39)	W259R	probably damaging	Het
Tnk1	A	T	11: 69,743,962 (GRCm39)	C466S	probably benign	Het
Tspoap1	A	C	11: 87,656,946 (GRCm39)	Q307P	probably damaging	Het
Ugt2b35	A	G	5: 87,159,389 (GRCm39)	N528D	possibly damaging	Het
Usp6nl	A	G	2: 6,431,809 (GRCm39)		probably null	Het
Vmn1r203	C	T	13: 22,708,678 (GRCm39)	T153M	probably benign	Het
Vmn1r89	T	A	7: 12,953,938 (GRCm39)	S157T	probably damaging	Het
Vmn2r103	A	T	17: 20,013,230 (GRCm39)	Y117F	probably benign	Het
Vmn2r116	A	C	17: 23,605,115 (GRCm39)	M143L	probably benign	Het
Vmn2r62	A	T	7: 42,414,261 (GRCm39)	D727E	probably damaging	Het
Vps13c	A	G	9: 67,862,304 (GRCm39)	I2974V	probably benign	Het
Wrn	C	T	8: 33,758,847 (GRCm39)	G769D	probably damaging	Het
Zhx3	T	A	2: 160,622,940 (GRCm39)	H409L	possibly damaging	Het

Other mutations in Etf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02568:Etf1	APN	18	35,046,714 (GRCm39)	missense	possibly damaging	0.89
IGL02608:Etf1	APN	18	35,064,670 (GRCm39)	missense	probably damaging	0.98
IGL02706:Etf1	APN	18	35,064,690 (GRCm39)	missense	possibly damaging	0.71
R1480:Etf1	UTSW	18	35,042,276 (GRCm39)	missense	probably damaging	0.96
R2112:Etf1	UTSW	18	35,042,154 (GRCm39)	splice site	probably null
R5579:Etf1	UTSW	18	35,046,654 (GRCm39)	missense	probably damaging	1.00
R7042:Etf1	UTSW	18	35,043,219 (GRCm39)	missense	probably benign	0.29
R7246:Etf1	UTSW	18	35,064,964 (GRCm39)	missense	unknown
R7354:Etf1	UTSW	18	35,039,040 (GRCm39)	missense	probably damaging	1.00
R7392:Etf1	UTSW	18	35,039,103 (GRCm39)	missense	probably benign	0.09
R8097:Etf1	UTSW	18	35,064,697 (GRCm39)	missense	probably benign
R8290:Etf1	UTSW	18	35,064,891 (GRCm39)	missense	unknown
R8704:Etf1	UTSW	18	35,039,139 (GRCm39)	missense	probably damaging	1.00
R9459:Etf1	UTSW	18	35,039,134 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTTAGCCTGGCTCACAAAGTACC -3'
(R):5'- AGCTTTGCTCCACAGTACACATTGG -3'

Sequencing Primer
(F):5'- CTGTGTCTGAAACCAAGGATTTCTG -3'
(R):5'- TTGTGGAAACCAAGAGCCAC -3'

Posted On

2014-03-17