Mutagenetix > Incidental Mutation

Incidental Mutation 'R1071:Eml4'

86203

Institutional Source

Beutler Lab

Gene Symbol

Eml4

Ensembl Gene

ENSMUSG00000032624

Gene Name

echinoderm microtubule associated protein like 4

Synonyms

4930443C24Rik

MMRRC Submission

039157-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R1071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83658360-83787790 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83785468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 878 (E878*)

Ref Sequence

ENSEMBL: ENSMUSP00000107982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049503] [ENSMUST00000096766] [ENSMUST00000112363]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000049503
AA Change: E835*

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: E835*

Domain	Start	End	E-Value	Type
coiled coil region	15	53	N/A	INTRINSIC
WD40	197	246	1.79e-1	SMART
Blast:WD40	252	294	3e-19	BLAST
WD40	297	336	5.97e-1	SMART
WD40	345	382	2.96e1	SMART
low complexity region	388	396	N/A	INTRINSIC
WD40	397	436	1.48e-2	SMART
WD40	480	519	4.95e-4	SMART
WD40	522	560	7.92e1	SMART
WD40	563	602	5.75e-1	SMART
WD40	609	648	2.69e-5	SMART
WD40	722	762	8.04e-4	SMART
low complexity region	793	805	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000096766
AA Change: E947*

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: E947*

Domain	Start	End	E-Value	Type
coiled coil region	15	53	N/A	INTRINSIC
low complexity region	137	155	N/A	INTRINSIC
Pfam:HELP	236	308	1.1e-33	PFAM
WD40	309	358	1.79e-1	SMART
Blast:WD40	364	406	4e-20	BLAST
WD40	409	448	5.97e-1	SMART
WD40	457	494	2.96e1	SMART
low complexity region	500	508	N/A	INTRINSIC
WD40	509	548	1.48e-2	SMART
WD40	592	631	4.95e-4	SMART
WD40	634	672	7.92e1	SMART
WD40	675	714	5.75e-1	SMART
WD40	721	760	2.69e-5	SMART
WD40	834	874	8.04e-4	SMART
low complexity region	905	917	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112363
AA Change: E878*

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: E878*

Domain	Start	End	E-Value	Type
coiled coil region	15	53	N/A	INTRINSIC
WD40	240	289	1.79e-1	SMART
Blast:WD40	295	337	3e-19	BLAST
WD40	340	379	5.97e-1	SMART
WD40	388	425	2.96e1	SMART
low complexity region	431	439	N/A	INTRINSIC
WD40	440	479	1.48e-2	SMART
WD40	523	562	4.95e-4	SMART
WD40	565	603	7.92e1	SMART
WD40	606	645	5.75e-1	SMART
WD40	652	691	2.69e-5	SMART
WD40	765	805	8.04e-4	SMART
low complexity region	836	848	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	T	C	10: 80,147,336 (GRCm39)	S768P	probably damaging	Het
Bub1b	CAT	C	2: 118,462,928 (GRCm39)		probably null	Het
Cplane1	T	A	15: 8,247,910 (GRCm39)	H1486Q	probably benign	Het
Plcb1	A	G	2: 135,167,577 (GRCm39)	D457G	possibly damaging	Het
Prepl	T	C	17: 85,377,940 (GRCm39)	Y480C	probably damaging	Het
Senp6	T	A	9: 80,044,011 (GRCm39)	Y708N	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Ugt3a1	T	C	15: 9,367,454 (GRCm39)	V399A	possibly damaging	Het
Vmn1r30	A	T	6: 58,412,813 (GRCm39)	N6K	possibly damaging	Het
Vmn2r3	G	A	3: 64,182,697 (GRCm39)	T334I	possibly damaging	Het
Vtn	C	A	11: 78,392,602 (GRCm39)	N393K	probably benign	Het
Zfp786	T	C	6: 47,798,239 (GRCm39)	D233G	possibly damaging	Het
Zmym2	A	G	14: 57,197,278 (GRCm39)	T1349A	possibly damaging	Het

Other mutations in Eml4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Eml4	APN	17	83,755,613 (GRCm39)	missense	probably benign	0.05
IGL00815:Eml4	APN	17	83,758,219 (GRCm39)	splice site	probably benign
IGL01969:Eml4	APN	17	83,753,409 (GRCm39)	missense	possibly damaging	0.95
IGL02005:Eml4	APN	17	83,785,132 (GRCm39)	splice site	probably benign
IGL02273:Eml4	APN	17	83,763,808 (GRCm39)	splice site	probably null
IGL02318:Eml4	APN	17	83,748,795 (GRCm39)	missense	probably benign	0.01
IGL02421:Eml4	APN	17	83,785,321 (GRCm39)	missense	probably benign	0.00
IGL02728:Eml4	APN	17	83,780,568 (GRCm39)	splice site	probably null
IGL02814:Eml4	APN	17	83,748,791 (GRCm39)	nonsense	probably null
IGL02900:Eml4	APN	17	83,785,421 (GRCm39)	missense	probably benign	0.00
IGL03205:Eml4	APN	17	83,761,873 (GRCm39)	missense	probably damaging	1.00
erring	UTSW	17	83,755,646 (GRCm39)	missense	probably damaging	1.00
R0147:Eml4	UTSW	17	83,729,081 (GRCm39)	missense	probably damaging	1.00
R0148:Eml4	UTSW	17	83,729,081 (GRCm39)	missense	probably damaging	1.00
R0440:Eml4	UTSW	17	83,753,487 (GRCm39)	critical splice donor site	probably null
R0541:Eml4	UTSW	17	83,747,471 (GRCm39)	missense	probably benign	0.00
R0645:Eml4	UTSW	17	83,770,922 (GRCm39)	splice site	probably benign
R0733:Eml4	UTSW	17	83,761,893 (GRCm39)	missense	possibly damaging	0.88
R0944:Eml4	UTSW	17	83,785,489 (GRCm39)	missense	probably benign	0.08
R1975:Eml4	UTSW	17	83,717,622 (GRCm39)	missense	probably benign	0.00
R2042:Eml4	UTSW	17	83,755,607 (GRCm39)	missense	probably damaging	0.97
R2229:Eml4	UTSW	17	83,758,485 (GRCm39)	missense	probably benign	0.05
R2257:Eml4	UTSW	17	83,785,189 (GRCm39)	missense	probably damaging	0.99
R2878:Eml4	UTSW	17	83,717,603 (GRCm39)	missense	probably benign	0.01
R3820:Eml4	UTSW	17	83,780,494 (GRCm39)	missense	probably damaging	1.00
R4466:Eml4	UTSW	17	83,729,103 (GRCm39)	nonsense	probably null
R4620:Eml4	UTSW	17	83,768,962 (GRCm39)	missense	probably benign	0.13
R4657:Eml4	UTSW	17	83,758,377 (GRCm39)	nonsense	probably null
R4717:Eml4	UTSW	17	83,755,654 (GRCm39)	missense	probably benign	0.38
R4740:Eml4	UTSW	17	83,717,459 (GRCm39)	missense	probably damaging	1.00
R5073:Eml4	UTSW	17	83,771,006 (GRCm39)	missense	probably damaging	1.00
R5699:Eml4	UTSW	17	83,717,514 (GRCm39)	missense	probably benign	0.16
R5834:Eml4	UTSW	17	83,785,170 (GRCm39)	missense	probably damaging	1.00
R5944:Eml4	UTSW	17	83,753,472 (GRCm39)	missense	possibly damaging	0.52
R6044:Eml4	UTSW	17	83,753,379 (GRCm39)	missense	probably damaging	1.00
R6378:Eml4	UTSW	17	83,755,646 (GRCm39)	missense	probably damaging	1.00
R6980:Eml4	UTSW	17	83,758,446 (GRCm39)	missense	probably benign	0.00
R7025:Eml4	UTSW	17	83,732,740 (GRCm39)	missense	probably benign	0.04
R7037:Eml4	UTSW	17	83,732,756 (GRCm39)	missense	probably benign	0.04
R7042:Eml4	UTSW	17	83,768,999 (GRCm39)	missense	probably damaging	0.99
R7192:Eml4	UTSW	17	83,761,890 (GRCm39)	missense	probably benign	0.01
R7525:Eml4	UTSW	17	83,753,379 (GRCm39)	missense	probably damaging	1.00
R7548:Eml4	UTSW	17	83,732,766 (GRCm39)	missense	probably benign	0.18
R7595:Eml4	UTSW	17	83,763,513 (GRCm39)	missense	probably benign	0.18
R7791:Eml4	UTSW	17	83,781,135 (GRCm39)	missense	probably benign	0.45
R7866:Eml4	UTSW	17	83,758,126 (GRCm39)	missense	probably benign	0.00
R7936:Eml4	UTSW	17	83,781,115 (GRCm39)	missense	possibly damaging	0.65
R8435:Eml4	UTSW	17	83,729,070 (GRCm39)	missense	possibly damaging	0.78
R8447:Eml4	UTSW	17	83,755,656 (GRCm39)	missense	probably damaging	0.99
R8698:Eml4	UTSW	17	83,785,345 (GRCm39)	missense	probably benign
R9026:Eml4	UTSW	17	83,764,479 (GRCm39)	missense	probably damaging	0.99
R9054:Eml4	UTSW	17	83,734,640 (GRCm39)	splice site	probably benign
R9630:Eml4	UTSW	17	83,717,572 (GRCm39)	missense	probably damaging	1.00
R9765:Eml4	UTSW	17	83,747,498 (GRCm39)	missense	probably damaging	1.00
Z1176:Eml4	UTSW	17	83,753,394 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATAACAGACGCCAGTGTGACC -3'
(R):5'- ACAGTCTCCTGGATTGCTCTAGCTC -3'

Sequencing Primer
(F):5'- AGTGTGACCAAAACCCCTG -3'
(R):5'- TATCGGACTGCGGACAGTG -3'

Posted On

2013-11-18