Mutagenetix > Incidental Mutation

Incidental Mutation 'R4717:Eml4'

354173

Institutional Source

Beutler Lab

Gene Symbol

Eml4

Ensembl Gene

ENSMUSG00000032624

Gene Name

echinoderm microtubule associated protein like 4

Synonyms

4930443C24Rik

MMRRC Submission

041984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83658360-83787790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83755654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 295 (W295C)

Ref Sequence

ENSEMBL: ENSMUSP00000041880 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049503
AA Change: W295C

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: W295C

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 benign
Transcript: ENSMUST00000096766
AA Change: W407C

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: W407C

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 benign
Transcript: ENSMUST00000112363
AA Change: W338C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: W338C

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,097,783 (GRCm39)	L60P	probably damaging	Het
Acsf2	T	G	11: 94,450,372 (GRCm39)	M512L	probably benign	Het
Ahrr	T	A	13: 74,363,885 (GRCm39)	H312L	probably benign	Het
Akr1c18	T	C	13: 4,186,717 (GRCm39)	M244V	probably benign	Het
Aldh3b2	A	G	19: 4,031,128 (GRCm39)	Y459C	probably damaging	Het
Arhgap29	A	T	3: 121,803,607 (GRCm39)	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,391,406 (GRCm39)	D287V	probably damaging	Het
Astn2	A	T	4: 65,562,991 (GRCm39)	I930N	possibly damaging	Het
Bace2	T	A	16: 97,238,073 (GRCm39)	L508Q	probably damaging	Het
Baz2a	G	T	10: 127,960,811 (GRCm39)	C1537F	possibly damaging	Het
Cad	A	G	5: 31,224,030 (GRCm39)		probably null	Het
Capn5	A	T	7: 97,773,126 (GRCm39)	I626N	probably benign	Het
Car8	A	T	4: 8,169,685 (GRCm39)	N274K	probably damaging	Het
Casp14	T	C	10: 78,550,958 (GRCm39)	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,882,925 (GRCm39)	V1649A	probably benign	Het
Cemip	A	T	7: 83,596,488 (GRCm39)	I1092N	probably damaging	Het
Clspn	A	G	4: 126,453,849 (GRCm39)	N91D	probably damaging	Het
Cpxm2	A	G	7: 131,656,574 (GRCm39)	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,473,749 (GRCm39)	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,318,285 (GRCm39)		probably null	Het
Cyp4x1	T	C	4: 114,978,902 (GRCm39)	H206R	probably benign	Het
Dapk1	T	A	13: 60,874,476 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,290,888 (GRCm39)	W76R	probably damaging	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah2	T	C	11: 69,320,183 (GRCm39)	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,642,113 (GRCm39)	C12S	possibly damaging	Het
Dock1	T	C	7: 134,449,899 (GRCm39)	I804T	probably damaging	Het
Efs	G	T	14: 55,157,801 (GRCm39)	S170Y	probably damaging	Het
Fkbp15	A	G	4: 62,226,306 (GRCm39)	S748P	probably damaging	Het
Ghr	T	G	15: 3,349,235 (GRCm39)	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,523,494 (GRCm39)	I942N	probably damaging	Het
Gpam	T	A	19: 55,064,046 (GRCm39)	E682D	probably benign	Het
Gsr	A	T	8: 34,183,886 (GRCm39)	K383*	probably null	Het
Hapln1	C	A	13: 89,753,579 (GRCm39)	S248R	probably benign	Het
Haus2	G	T	2: 120,449,583 (GRCm39)	R209L	probably benign	Het
Hhatl	A	G	9: 121,618,943 (GRCm39)	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,494,816 (GRCm39)	M4091T	probably benign	Het
Hspb7	A	G	4: 141,149,896 (GRCm39)	D94G	probably damaging	Het
Irf6	T	A	1: 192,849,742 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,381,878 (GRCm39)	L60*	probably null	Het
Jmjd1c	C	T	10: 66,993,830 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 191,959,025 (GRCm39)	D193G	probably damaging	Het
Klhl25	G	T	7: 75,516,528 (GRCm39)	C478F	probably damaging	Het
Klhl3	T	C	13: 58,178,330 (GRCm39)	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,762,708 (GRCm39)	H80Q	probably null	Het
Lhcgr	C	A	17: 89,049,895 (GRCm39)	V544F	probably benign	Het
Mfsd4a	T	C	1: 131,985,633 (GRCm39)	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881 (GRCm39)	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,293,000 (GRCm39)	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394 (GRCm39)	A562V	possibly damaging	Het
Nid1	T	C	13: 13,681,086 (GRCm39)	V1072A	probably benign	Het
Nsf	T	G	11: 103,714,595 (GRCm39)	K728T	probably damaging	Het
Or10ak7	T	C	4: 118,791,626 (GRCm39)	N140D	probably benign	Het
Or12j3	T	C	7: 139,953,328 (GRCm39)	N65S	probably damaging	Het
Or1e17	T	A	11: 73,831,641 (GRCm39)	S190T	possibly damaging	Het
Or2a5	T	C	6: 42,874,158 (GRCm39)	Y258H	probably damaging	Het
Or4k15b	A	T	14: 50,272,821 (GRCm39)	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,502,631 (GRCm39)	C894S	probably damaging	Het
Pde2a	A	G	7: 101,143,879 (GRCm39)	D166G	probably benign	Het
Pfpl	G	A	19: 12,406,618 (GRCm39)	E290K	probably benign	Het
Pi4kb	A	C	3: 94,906,162 (GRCm39)	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,041,622 (GRCm39)	C1727*	probably null	Het
Poln	A	T	5: 34,286,792 (GRCm39)	D125E	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,412 (GRCm39)	D259G	possibly damaging	Het
Prx	A	T	7: 27,216,152 (GRCm39)	M218L	probably benign	Het
Pxn	A	T	5: 115,690,001 (GRCm39)	Q342L	probably damaging	Het
Rhpn2	A	G	7: 35,033,775 (GRCm39)	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,400,174 (GRCm39)	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,591,075 (GRCm39)	T142K	probably damaging	Het
Sacs	T	C	14: 61,450,304 (GRCm39)	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,745,195 (GRCm39)	N700S	probably damaging	Het
Sec62	A	C	3: 30,864,020 (GRCm39)	K101Q	unknown	Het
Sel1l2	A	C	2: 140,071,943 (GRCm39)	L659R	possibly damaging	Het
Septin11	A	G	5: 93,304,815 (GRCm39)	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,642,107 (GRCm39)	E112K	probably damaging	Het
Spem2	T	C	11: 69,708,609 (GRCm39)	N119D	probably benign	Het
Themis	G	A	10: 28,665,748 (GRCm39)	E604K	probably benign	Het
Tie1	T	C	4: 118,343,414 (GRCm39)	K150E	probably damaging	Het
Top6bl	A	G	19: 4,675,901 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,218,333 (GRCm39)	T258I	possibly damaging	Het
Ushbp1	C	T	8: 71,838,313 (GRCm39)	A664T	probably damaging	Het
Vmn1r1	T	C	1: 181,984,774 (GRCm39)	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,402,637 (GRCm39)	I291L	probably damaging	Het
Yy1	A	G	12: 108,759,972 (GRCm39)	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,250,149 (GRCm39)	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,099,069 (GRCm39)	H632L	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
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
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
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'- TCAGTCAGGAGCAAAGCTGG -3'
(R):5'- ACGCCAGCTTTGAAGGTTTATC -3'

Sequencing Primer
(F):5'- ACGAAAGTTAGTGTGTTTCTCTTCC -3'
(R):5'- GCCAGCTTTGAAGGTTTATCTAACTG -3'

Posted On

2015-10-21