Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Eml4'

515159

Institutional Source

Beutler Lab

Gene Symbol

Eml4

Ensembl Gene

ENSMUSG00000032624

Gene Name

echinoderm microtubule associated protein like 4

Synonyms

4930443C24Rik

MMRRC Submission

044528-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83658360-83787790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83755646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 336 (W336R)

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 damaging
Transcript: ENSMUST00000049503
AA Change: W293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: W293R

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 damaging
Transcript: ENSMUST00000096766
AA Change: W405R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: W405R

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 damaging
Transcript: ENSMUST00000112363
AA Change: W336R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: W336R

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

Meta Mutation Damage Score

0.9638

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,853,168 (GRCm39)		probably null	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,677,233 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,196,021 (GRCm39)	D581G	probably benign	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Nxf1	T	A	19: 8,741,910 (GRCm39)	D145E	probably benign	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or6b2	A	G	1: 92,408,178 (GRCm39)	L55P	probably damaging	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Pmfbp1	T	C	8: 110,256,898 (GRCm39)	I534T	probably damaging	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	probably benign	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
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
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'- CGCCAGCTTTGAAGGTTTATC -3'

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

Posted On

2018-05-04