Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02568:Etf1'

298910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Etf1

Ensembl Gene

ENSMUSG00000024360

Gene Name

eukaryotic translation termination factor 1

Synonyms

TB3-1, SUP45L1, ERF1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL02568

Quality Score

Status

Chromosome

Chromosomal Location

35035838-35065060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35046714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 99 (T99A)

Ref Sequence

ENSEMBL: ENSMUSP00000025218 (fasta)

Gene Model

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

AlphaFold

Q8BWY3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025218
AA Change: T99A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025218
Gene: ENSMUSG00000024360
AA Change: T99A

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,033,184 (GRCm39)		probably benign	Het
Abcg5	C	T	17: 84,977,827 (GRCm39)	R143Q	probably damaging	Het
Arap3	G	A	18: 38,129,711 (GRCm39)	T150I	probably benign	Het
Arhgap32	T	C	9: 32,158,490 (GRCm39)	V175A	probably damaging	Het
Bpifb3	A	G	2: 153,766,721 (GRCm39)	E208G	probably benign	Het
C2	T	A	17: 35,083,325 (GRCm39)	D518V	possibly damaging	Het
C6	T	A	15: 4,820,646 (GRCm39)	C552*	probably null	Het
Ccdc38	A	T	10: 93,415,685 (GRCm39)	D447V	probably damaging	Het
Cept1	C	T	3: 106,411,035 (GRCm39)	R386H	probably benign	Het
Comt	A	G	16: 18,230,454 (GRCm39)	V85A	probably damaging	Het
Ddx24	G	T	12: 103,383,571 (GRCm39)	L627I	probably damaging	Het
Efemp1	T	C	11: 28,866,971 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,660,105 (GRCm39)	E68G	probably null	Het
Fzd3	C	A	14: 65,473,389 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,606 (GRCm39)	F119L	probably benign	Het
Golga5	G	T	12: 102,438,338 (GRCm39)	V18L	probably benign	Het
Il16	C	A	7: 83,310,484 (GRCm39)	R474M	probably damaging	Het
Itpr1	C	A	6: 108,316,515 (GRCm39)	Q71K	possibly damaging	Het
Kif21b	T	G	1: 136,100,605 (GRCm39)	L1562R	probably damaging	Het
Lamc2	T	C	1: 153,042,008 (GRCm39)	E42G	possibly damaging	Het
Mmp3	T	G	9: 7,446,001 (GRCm39)	L35R	probably benign	Het
Naip6	C	A	13: 100,452,780 (GRCm39)	G94W	probably damaging	Het
Nccrp1	G	A	7: 28,243,905 (GRCm39)	A226V	probably damaging	Het
Nckap5l	A	G	15: 99,323,564 (GRCm39)	Y980H	probably damaging	Het
Ncoa3	T	C	2: 165,911,277 (GRCm39)	S1345P	probably damaging	Het
Nop2	T	C	6: 125,117,813 (GRCm39)	S455P	probably damaging	Het
Nup93	T	C	8: 95,036,263 (GRCm39)	F689S	probably damaging	Het
Or5b112	T	C	19: 13,319,583 (GRCm39)	F154L	probably benign	Het
Plekhm1	T	A	11: 103,285,876 (GRCm39)	E186D	probably damaging	Het
Plxdc1	T	C	11: 97,869,390 (GRCm39)	Q66R	probably damaging	Het
Prkdc	T	G	16: 15,544,406 (GRCm39)	Y1799D	probably damaging	Het
Rasa2	A	G	9: 96,462,563 (GRCm39)	F220L	probably damaging	Het
Rftn1	T	C	17: 50,344,027 (GRCm39)	D87G	probably damaging	Het
Rgs6	C	T	12: 83,117,376 (GRCm39)	T266M	probably benign	Het
Sec16a	A	G	2: 26,326,054 (GRCm39)	Y1208H	probably damaging	Het
Slc12a1	G	T	2: 125,026,648 (GRCm39)	V428L	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Svep1	T	A	4: 58,135,441 (GRCm39)	T556S	probably benign	Het
Tanc2	T	A	11: 105,667,777 (GRCm39)	N119K	probably benign	Het
Tpgs1	T	A	10: 79,505,238 (GRCm39)		probably benign	Het
Tpm3-rs7	A	G	14: 113,552,370 (GRCm39)	E88G	probably damaging	Het
Tsr1	T	C	11: 74,791,204 (GRCm39)	V261A	probably benign	Het
Usp18	C	T	6: 121,238,050 (GRCm39)	T143I	probably benign	Het
Vmn2r24	T	C	6: 123,792,812 (GRCm39)	I713T	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Etf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1396:Etf1	UTSW	18	35,041,220 (GRCm39)	missense	possibly damaging	0.73
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

Posted On

2015-04-16