Mutagenetix > Incidental Mutation

Incidental Mutation 'R4657:Eml4'

352563

Institutional Source

Beutler Lab

Gene Symbol

Eml4

Ensembl Gene

ENSMUSG00000032624

Gene Name

echinoderm microtubule associated protein like 4

Synonyms

4930443C24Rik

MMRRC Submission

041917-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R4657 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83658360-83787790 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 83758377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 397 (K397*)

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: K354*

SMART Domains

Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: K354*

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: K466*

SMART Domains

Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: K466*

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: K397*

SMART Domains

Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: K397*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,904,304 (GRCm39)	V264E	possibly damaging	Het
Abcg1	T	A	17: 31,327,408 (GRCm39)	W368R	probably benign	Het
Acin1	A	G	14: 54,880,504 (GRCm39)	I476T	possibly damaging	Het
Acsm1	T	A	7: 119,239,917 (GRCm39)	I287N	possibly damaging	Het
Adgrv1	C	T	13: 81,553,483 (GRCm39)	V5464I	probably benign	Het
AI429214	T	A	8: 37,461,545 (GRCm39)	L231Q	probably damaging	Het
Akp3	A	G	1: 87,053,556 (GRCm39)		probably benign	Het
Amy2b	C	T	3: 113,060,793 (GRCm39)		noncoding transcript	Het
Apoa5	A	G	9: 46,181,170 (GRCm39)	Q82R	probably benign	Het
Arhgap44	A	G	11: 64,896,278 (GRCm39)		probably null	Het
Arhgef38	C	A	3: 132,940,442 (GRCm39)	G48V	probably damaging	Het
Bltp3a	T	A	17: 28,109,079 (GRCm39)	F1099L	probably benign	Het
Bod1l	G	T	5: 41,975,955 (GRCm39)	N1786K	probably benign	Het
Cav2	A	T	6: 17,281,409 (GRCm39)	D17V	probably null	Het
Ccdc148	G	T	2: 58,891,900 (GRCm39)	N238K	probably benign	Het
Ccin	A	T	4: 43,984,981 (GRCm39)	I463F	probably damaging	Het
Cd8b1	C	T	6: 71,306,758 (GRCm39)	H162Y	possibly damaging	Het
Cdh16	T	A	8: 105,341,858 (GRCm39)		probably null	Het
Cfap65	T	A	1: 74,964,513 (GRCm39)		probably benign	Het
Clec4n	T	C	6: 123,209,155 (GRCm39)		probably null	Het
Cpne7	T	A	8: 123,861,314 (GRCm39)	*558R	probably null	Het
Cs	A	G	10: 128,189,006 (GRCm39)	I172V	probably benign	Het
Cyp2ab1	A	T	16: 20,131,822 (GRCm39)	L306Q	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,814 (GRCm39)	V98E	probably damaging	Het
Dcaf15	A	C	8: 84,829,467 (GRCm39)	S92A	probably damaging	Het
Dkk3	T	C	7: 111,748,253 (GRCm39)		probably null	Het
Dnah11	A	T	12: 118,156,162 (GRCm39)	C163S	probably benign	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Eml6	A	T	11: 29,755,108 (GRCm39)	I889N	possibly damaging	Het
Etaa1	A	T	11: 17,896,964 (GRCm39)	D384E	possibly damaging	Het
Fzr1	T	A	10: 81,203,386 (GRCm39)		probably null	Het
Gm13889	G	T	2: 93,786,921 (GRCm39)	F61L	probably damaging	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gm5828	T	A	1: 16,839,642 (GRCm39)		noncoding transcript	Het
Gm5866	G	A	5: 52,740,262 (GRCm39)		noncoding transcript	Het
Gp2	T	C	7: 119,056,391 (GRCm39)	I27M	probably benign	Het
Gpr83	G	A	9: 14,778,279 (GRCm39)		probably null	Het
Gucd1	T	C	10: 75,346,959 (GRCm39)	N97S	probably benign	Het
H2bc27	C	T	11: 58,839,797 (GRCm39)	P11L	probably benign	Het
H2-Q7	T	A	17: 35,661,735 (GRCm39)	V326E	possibly damaging	Het
Haao	A	T	17: 84,139,774 (GRCm39)	D227E	possibly damaging	Het
Hipk3	C	T	2: 104,264,104 (GRCm39)	S819N	probably benign	Het
Hlcs	A	G	16: 94,063,557 (GRCm39)	V501A	probably benign	Het
Hmcn1	A	G	1: 150,500,301 (GRCm39)	Y3964H	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifi211	A	G	1: 173,735,226 (GRCm39)	F68L	probably benign	Het
Ift57	A	G	16: 49,582,957 (GRCm39)		probably null	Het
Ighv5-12-4	A	T	12: 113,725,887 (GRCm39)	L112*	probably null	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il36a	T	A	2: 24,114,416 (GRCm39)	M97K	possibly damaging	Het
Itsn2	A	G	12: 4,763,197 (GRCm39)	*1686W	probably null	Het
Jkamp	G	T	12: 72,140,823 (GRCm39)	V123F	probably damaging	Het
Kat7	C	A	11: 95,168,424 (GRCm39)	V411L	probably damaging	Het
Kcnj5	A	G	9: 32,233,973 (GRCm39)	V114A	probably benign	Het
Krtap5-4	T	A	7: 141,857,491 (GRCm39)	C54S	unknown	Het
Lats1	T	A	10: 7,581,448 (GRCm39)	N744K	possibly damaging	Het
Lpo	T	C	11: 87,705,173 (GRCm39)	E387G	probably damaging	Het
Lrba	T	G	3: 86,644,471 (GRCm39)	M388R	probably damaging	Het
Lrp2	C	A	2: 69,297,337 (GRCm39)	R3208L	probably damaging	Het
Mterf1b	T	A	5: 4,247,176 (GRCm39)	C272*	probably null	Het
Myh15	A	T	16: 48,992,421 (GRCm39)	R1632*	probably null	Het
Myo3b	T	C	2: 70,069,243 (GRCm39)	V494A	possibly damaging	Het
Myo9a	T	C	9: 59,782,699 (GRCm39)		probably null	Het
Nelfa	T	G	5: 34,059,157 (GRCm39)	S233R	probably benign	Het
Nr4a3	A	T	4: 48,051,522 (GRCm39)	E121V	probably damaging	Het
Obscn	T	A	11: 58,933,116 (GRCm39)	E5406D	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or1j18	T	A	2: 36,624,415 (GRCm39)	Y27*	probably null	Het
Or7e177	A	C	9: 20,211,919 (GRCm39)	H142P	probably damaging	Het
Oxct2b	T	C	4: 123,010,926 (GRCm39)	L282P	probably damaging	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb14	A	G	18: 37,581,900 (GRCm39)	I335M	possibly damaging	Het
Pcsk1	T	A	13: 75,280,354 (GRCm39)	D726E	probably damaging	Het
Pkhd1	T	A	1: 20,434,391 (GRCm39)	Q2349L	possibly damaging	Het
Pkhd1l1	G	A	15: 44,410,743 (GRCm39)	C2750Y	probably damaging	Het
Ppp2r3d	A	G	9: 124,476,821 (GRCm38)	C26R	unknown	Het
Prex2	T	A	1: 11,136,049 (GRCm39)	I74N	probably benign	Het
Ptgir	A	G	7: 16,641,071 (GRCm39)	D121G	probably benign	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Ralbp1	T	C	17: 66,159,686 (GRCm39)	S526G	probably null	Het
Ric8b	T	C	10: 84,828,001 (GRCm39)	Y442H	probably damaging	Het
Rpap1	C	T	2: 119,605,487 (GRCm39)	D385N	probably benign	Het
Sash1	T	C	10: 8,601,424 (GRCm39)	Y1177C	probably damaging	Het
Shroom1	T	C	11: 53,356,415 (GRCm39)	I363T	possibly damaging	Het
Slc26a9	T	C	1: 131,680,876 (GRCm39)	L95P	probably damaging	Het
Slc44a5	A	G	3: 153,962,221 (GRCm39)	T385A	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc7a1	T	A	5: 148,289,209 (GRCm39)	M13L	probably benign	Het
Snrpb2	A	G	2: 142,912,893 (GRCm39)	N172S	possibly damaging	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Srsf6	T	A	2: 162,775,347 (GRCm39)	S86R	probably benign	Het
Stk25	A	T	1: 93,553,378 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,254,866 (GRCm39)	C275S	probably benign	Het
Tcp10b	T	A	17: 13,292,504 (GRCm39)		probably null	Het
Tmem248	T	A	5: 130,260,615 (GRCm39)	L60H	probably damaging	Het
Trim27	T	C	13: 21,367,930 (GRCm39)	I182T	probably damaging	Het
Tspan10	A	G	11: 120,335,324 (GRCm39)	N145D	probably damaging	Het
Vps13d	A	G	4: 144,801,412 (GRCm39)	F487S	probably damaging	Het
Wdr86	A	T	5: 24,923,229 (GRCm39)	D154E	probably benign	Het
Wfdc18	C	A	11: 83,600,695 (GRCm39)	A32D	possibly damaging	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfp811	C	A	17: 33,019,897 (GRCm39)	E7*	probably null	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
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'- GCTGTAGAATTCCACCCAACAG -3'
(R):5'- TCCTTAGAAGGCTCTTTCTGGAG -3'

Sequencing Primer
(F):5'- TTCTGGACCTGGAGTGGCAAC -3'
(R):5'- AGCGCTCTCCTGGTTGGTAAG -3'

Posted On

2015-10-08