Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02608:Etf1'

300348

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 #

IGL02608

Quality Score

Status

Chromosome

Chromosomal Location

35035838-35065060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35064670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000025218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025218] [ENSMUST00000180351]

AlphaFold

Q8BWY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025218
AA Change: E13G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025218
Gene: ENSMUSG00000024360
AA Change: E13G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180351

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	T	A	15: 102,247,627 (GRCm39)	M415L	probably benign	Het
Akap6	T	C	12: 53,057,389 (GRCm39)	S952P	probably benign	Het
Aldh3a1	A	G	11: 61,107,147 (GRCm39)	R284G	probably damaging	Het
Aldh3b1	G	T	19: 3,964,061 (GRCm39)	H414N	probably damaging	Het
Chd5	G	A	4: 152,440,564 (GRCm39)	M141I	possibly damaging	Het
Cntn2	C	T	1: 132,453,654 (GRCm39)	A340T	possibly damaging	Het
Daw1	T	A	1: 83,187,055 (GRCm39)	C288*	probably null	Het
Dcn	A	G	10: 97,319,319 (GRCm39)	E32G	probably damaging	Het
Dock5	C	T	14: 68,065,888 (GRCm39)	V372M	probably benign	Het
Filip1l	A	G	16: 57,392,469 (GRCm39)	E781G	probably benign	Het
Gucy1a2	A	G	9: 3,635,113 (GRCm39)	I386V	probably damaging	Het
Gvin-ps5	T	A	7: 105,928,876 (GRCm39)		noncoding transcript	Het
Hoxb5	T	A	11: 96,195,969 (GRCm39)		probably benign	Het
Iqch	T	A	9: 63,329,110 (GRCm39)		probably benign	Het
Itgal	C	T	7: 126,909,416 (GRCm39)	P423S	probably damaging	Het
Kti12	T	G	4: 108,705,359 (GRCm39)	L91R	probably damaging	Het
Lgals3	T	C	14: 47,623,058 (GRCm39)	M239T	probably benign	Het
Lrrc8a	T	C	2: 30,146,311 (GRCm39)	M375T	possibly damaging	Het
Ly75	T	C	2: 60,152,244 (GRCm39)	E1103G	probably benign	Het
Lyst	A	T	13: 13,887,339 (GRCm39)	E3056V	probably damaging	Het
Map3k7	T	C	4: 31,981,452 (GRCm39)		probably benign	Het
Ncor1	G	A	11: 62,264,040 (GRCm39)	T180I	probably benign	Het
Nectin4	T	C	1: 171,212,341 (GRCm39)	V313A	probably benign	Het
Nol4l	A	G	2: 153,278,213 (GRCm39)	S8P	possibly damaging	Het
Npas2	T	A	1: 39,384,527 (GRCm39)	S607T	probably benign	Het
Nup155	T	A	15: 8,138,955 (GRCm39)	M9K	probably benign	Het
Nwd1	T	C	8: 73,394,003 (GRCm39)	L422P	probably damaging	Het
Or14j3	T	A	17: 37,901,110 (GRCm39)	I45F	probably damaging	Het
Papola	G	T	12: 105,775,818 (GRCm39)	G245C	probably damaging	Het
Pcdhb6	T	C	18: 37,467,747 (GRCm39)	S223P	probably damaging	Het
Pdcd4	T	C	19: 53,915,638 (GRCm39)		probably null	Het
Pigg	T	C	5: 108,460,869 (GRCm39)	F27L	probably damaging	Het
Prpf40a	A	T	2: 53,036,165 (GRCm39)	M588K	probably damaging	Het
Psme4	A	G	11: 30,770,944 (GRCm39)	N764S	probably benign	Het
Ptar1	A	C	19: 23,683,076 (GRCm39)	E110A	possibly damaging	Het
Rbm12	A	T	2: 155,937,818 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,524,576 (GRCm39)	T589A	probably benign	Het
Rpl21-ps4	G	T	14: 11,227,831 (GRCm38)		noncoding transcript	Het
Rpp38	T	C	2: 3,330,198 (GRCm39)	T235A	probably benign	Het
Sbno2	A	T	10: 79,903,236 (GRCm39)		probably null	Het
Scn3a	A	T	2: 65,354,510 (GRCm39)	C337*	probably null	Het
Sec61a2	T	C	2: 5,879,073 (GRCm39)	T312A	probably benign	Het
Snrpg	C	A	6: 86,353,550 (GRCm39)	D43E	probably damaging	Het
Stag1	A	T	9: 100,639,822 (GRCm39)	Q126L	probably null	Het
Taar6	A	G	10: 23,861,081 (GRCm39)	V155A	probably benign	Het
Tet1	G	A	10: 62,715,388 (GRCm39)	H136Y	possibly damaging	Het
Tet1	C	A	10: 62,674,866 (GRCm39)	S1070I	probably damaging	Het
Tfcp2	T	C	15: 100,411,991 (GRCm39)	T327A	possibly damaging	Het
Tnfrsf13c	C	T	15: 82,107,364 (GRCm39)	V144M	probably damaging	Het
Tnfrsf22	T	A	7: 143,198,533 (GRCm39)	K61*	probably null	Het
Trhr	T	C	15: 44,061,074 (GRCm39)	V198A	probably benign	Het
Trp53inp2	A	G	2: 155,228,569 (GRCm39)	R175G	probably damaging	Het
Try10	G	A	6: 41,332,421 (GRCm39)	G26R	probably damaging	Het
Vmn1r205	A	G	13: 22,776,370 (GRCm39)	V244A	probably damaging	Het
Wrnip1	T	A	13: 32,990,857 (GRCm39)	L372H	probably damaging	Het
Zfp280d	T	A	9: 72,215,261 (GRCm39)	L149Q	probably damaging	Het
Zfp445	A	G	9: 122,690,940 (GRCm39)	V85A	probably 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
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