Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02273:Eml4'

287266

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eml4

Ensembl Gene

ENSMUSG00000032624

Gene Name

echinoderm microtubule associated protein like 4

Synonyms

4930443C24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

IGL02273

Quality Score

Status

Chromosome

Chromosomal Location

83658360-83787790 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 83763808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107982 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000049503

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624

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: ENSMUST00000049503

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624

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: ENSMUST00000049503

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624

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

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624

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: ENSMUST00000096766

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624

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: ENSMUST00000096766

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624

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

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624

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

Predicted Effect

probably null
Transcript: ENSMUST00000112363

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624

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

Predicted Effect

probably null
Transcript: ENSMUST00000112363

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	T	C	7: 126,429,931 (GRCm39)	T89A	probably benign	Het
Amhr2	T	C	15: 102,360,924 (GRCm39)	V353A	probably benign	Het
Bbox1	A	T	2: 110,105,961 (GRCm39)	Y194*	probably null	Het
Bltp1	T	A	3: 36,975,586 (GRCm39)		probably benign	Het
Bnipl	C	A	3: 95,153,086 (GRCm39)	R131L	possibly damaging	Het
Casp8ap2	T	C	4: 32,643,974 (GRCm39)	S1016P	probably damaging	Het
Cblb	A	G	16: 51,867,657 (GRCm39)	I88M	possibly damaging	Het
Cyp24a1	A	T	2: 170,338,278 (GRCm39)	Y89N	probably damaging	Het
Ddx25	G	T	9: 35,458,122 (GRCm39)	N332K	possibly damaging	Het
Dnaaf5	C	T	5: 139,163,671 (GRCm39)	Q348*	probably null	Het
Dnah3	A	T	7: 119,550,494 (GRCm39)	I3264N	probably damaging	Het
Farsa	C	T	8: 85,594,455 (GRCm39)	A368V	probably damaging	Het
Fat1	T	C	8: 45,403,368 (GRCm39)	Y40H	probably damaging	Het
Glt1d1	T	A	5: 127,734,208 (GRCm39)		probably benign	Het
Gm5422	A	G	10: 31,126,003 (GRCm39)		noncoding transcript	Het
Gpr135	A	G	12: 72,116,732 (GRCm39)	I345T	probably damaging	Het
Hmcn2	G	A	2: 31,314,389 (GRCm39)	V3616I	probably benign	Het
Kif9	A	T	9: 110,339,538 (GRCm39)	K460M	probably damaging	Het
Ldhd	T	C	8: 112,353,922 (GRCm39)	E426G	probably benign	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Nfkb1	A	T	3: 135,310,968 (GRCm39)	C444S	probably benign	Het
Pfkfb2	G	A	1: 130,635,319 (GRCm39)	R81C	probably damaging	Het
Pfpl	T	C	19: 12,407,327 (GRCm39)	V526A	possibly damaging	Het
Phf20l1	T	A	15: 66,511,874 (GRCm39)	V951E	probably damaging	Het
Pik3cg	A	T	12: 32,226,809 (GRCm39)	L1026Q	probably damaging	Het
Pms1	T	C	1: 53,247,156 (GRCm39)	N263S	probably damaging	Het
Prkcb	T	A	7: 122,226,990 (GRCm39)	F659I	probably damaging	Het
Prr14	A	G	7: 127,075,108 (GRCm39)	I69M	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Senp5	T	C	16: 31,808,690 (GRCm39)	H161R	probably benign	Het
Spc25	A	G	2: 69,035,273 (GRCm39)		probably benign	Het
Spty2d1	A	G	7: 46,647,321 (GRCm39)	V536A	probably damaging	Het
Susd2	A	G	10: 75,476,772 (GRCm39)	S84P	possibly damaging	Het
Tacc1	A	C	8: 25,649,797 (GRCm39)	L768V	probably damaging	Het
Tbpl2	A	T	2: 23,986,531 (GRCm39)	I5N	probably benign	Het
Tmc2	A	G	2: 130,071,126 (GRCm39)	D285G	probably damaging	Het
Tns3	A	T	11: 8,384,531 (GRCm39)	V1429E	probably damaging	Het
Trmt44	T	C	5: 35,731,457 (GRCm39)	Y190C	probably damaging	Het
Ubr4	G	A	4: 139,199,889 (GRCm39)	R4591H	possibly damaging	Het
Zfc3h1	T	A	10: 115,263,004 (GRCm39)	D1739E	probably benign	Het
Zfp26	A	G	9: 20,352,744 (GRCm39)	V107A	probably 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
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
R1071:Eml4	UTSW	17	83,785,468 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16