Mutagenetix > Incidental Mutations

Incidental Mutation 'R2158:Eml5'

235004

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

040161-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 98843946 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]

Predicted Effect

probably benign
Transcript: ENSMUST00000065716

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166

Domain	Start	End	E-Value	Type
Pfam:HELP	1	49	3.3e-21	PFAM
WD40	50	91	6.42e-1	SMART
WD40	94	136	1.08e-4	SMART
WD40	139	178	1.27e-1	SMART
WD40	184	224	2.75e1	SMART
WD40	225	263	2.65e-4	SMART
Blast:WD40	265	312	2e-22	BLAST
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.2e2	SMART
WD40	397	436	8.59e-1	SMART
WD40	444	479	6.6e1	SMART
WD40	505	546	2.74e2	SMART
WD40	552	592	4.8e-2	SMART
low complexity region	609	632	N/A	INTRINSIC
Pfam:HELP	656	715	1.4e-20	PFAM
WD40	716	757	1.18e-1	SMART
WD40	760	802	2.84e-4	SMART
WD40	805	844	1.91e1	SMART
WD40	853	891	2.64e2	SMART
WD40	892	929	3.45e-3	SMART
WD40	985	1026	4.55e-3	SMART
WD40	1029	1068	6.39e0	SMART
WD40	1071	1111	5.15e-2	SMART
WD40	1180	1221	1.9e2	SMART
WD40	1227	1267	1.38e0	SMART
low complexity region	1280	1297	N/A	INTRINSIC
Pfam:HELP	1335	1410	2.4e-16	PFAM
Blast:WD40	1412	1462	8e-28	BLAST
WD40	1465	1507	1.56e-1	SMART
WD40	1510	1549	2.06e0	SMART
WD40	1558	1597	8.22e1	SMART
WD40	1599	1644	4.26e1	SMART
WD40	1690	1730	2.19e-5	SMART
WD40	1774	1813	5.97e-1	SMART
WD40	1884	1925	2.39e0	SMART
WD40	1931	1971	2.88e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223282

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,716,608	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,385,668	S38T	possibly damaging	Het
Adam4	A	G	12: 81,421,763	L28S	probably damaging	Het
Agmo	T	A	12: 37,357,710	F198I	probably damaging	Het
Akap7	A	G	10: 25,171,164	V45A	probably damaging	Het
Amotl1	G	T	9: 14,575,169	N476K	probably benign	Het
Apcs	A	G	1: 172,894,533	L82P	probably damaging	Het
Armc3	C	A	2: 19,248,633	P195Q	probably damaging	Het
Astn2	A	T	4: 66,404,254	L36Q	unknown	Het
Atad2	A	T	15: 58,098,566	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,434,080	D285V	probably benign	Het
Caskin1	T	C	17: 24,505,154	V972A	probably benign	Het
Ccdc141	T	A	2: 77,030,671	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,390,572	D1019V	probably damaging	Het
Evi5l	T	C	8: 4,193,195	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,091,450		probably benign	Het
Fn3k	A	T	11: 121,448,886	N158I	probably damaging	Het
Galnt17	C	T	5: 130,906,702	R381Q	probably damaging	Het
Golga3	A	T	5: 110,187,361	K180N	probably damaging	Het
Hipk1	A	G	3: 103,760,538	L571P	probably damaging	Het
Hormad2	T	A	11: 4,424,808	K69*	probably null	Het
Hspg2	A	T	4: 137,517,604	D880V	probably damaging	Het
Ido2	T	A	8: 24,540,636	D226V	probably damaging	Het
Irs3	A	G	5: 137,644,699	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,276,859	T38A	probably damaging	Het
Kif11	A	G	19: 37,410,614	I749V	probably benign	Het
Lrp1b	T	G	2: 40,879,555	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,669,618	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,146,372	T106M	probably damaging	Het
Mdga2	C	T	12: 66,689,381	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563	T1479I	probably benign	Het
Myom1	T	C	17: 71,064,597	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047		probably null	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Olfr328	T	A	11: 58,551,942	Q99L	probably damaging	Het
Olfr620	G	C	7: 103,612,236	T39R	possibly damaging	Het
Olfr645	T	G	7: 104,084,826	T85P	probably benign	Het
Olfr69	G	T	7: 103,767,961	C145*	probably null	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Olfr930	T	C	9: 38,930,579	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,757,621	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,418,248	I269F	probably benign	Het
Plch1	A	G	3: 63,721,234	V536A	probably benign	Het
Popdc2	T	A	16: 38,362,826	L57Q	probably damaging	Het
Pramef17	T	C	4: 143,994,315	R19G	possibly damaging	Het
Riox1	A	G	12: 83,950,935	K82E	probably benign	Het
Rnasel	G	A	1: 153,754,901	V388M	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Snx25	A	G	8: 46,041,407	S814P	probably damaging	Het
Spta1	A	T	1: 174,229,258	H1859L	probably benign	Het
Strc	T	C	2: 121,365,862	I1562V	probably benign	Het
Taar5	T	A	10: 23,971,088	I128N	probably damaging	Het
Ttc28	C	T	5: 111,177,617		probably benign	Het
Vcan	A	T	13: 89,703,529	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,900,755	Q335*	probably null	Het
Zic1	T	C	9: 91,364,893	D42G	possibly damaging	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98873209	splice site	probably benign
IGL00473:Eml5	APN	12	98805492	splice site	probably benign
IGL01120:Eml5	APN	12	98844019	missense	probably benign
IGL01308:Eml5	APN	12	98802313	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98798932	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98863280	missense	probably benign
IGL02182:Eml5	APN	12	98802322	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98794424	splice site	probably benign
IGL02375:Eml5	APN	12	98844087	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98790674	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98876243	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98817845	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98858841	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98861245	nonsense	probably null
IGL03158:Eml5	APN	12	98827514	splice site	probably benign
IGL03286:Eml5	APN	12	98860503	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98874647	splice site	probably benign
BB010:Eml5	UTSW	12	98844020	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98844020	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98824772	splice site	probably null
R0624:Eml5	UTSW	12	98865479	missense	probably damaging	1.00
R0993:Eml5	UTSW	12	98861183	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98830973	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98792046	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98831003	splice site	probably benign
R1469:Eml5	UTSW	12	98858823	missense	probably benign
R1469:Eml5	UTSW	12	98858823	missense	probably benign
R1503:Eml5	UTSW	12	98831174	missense	probably damaging	0.99
R1538:Eml5	UTSW	12	98794276	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98830935	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98798839	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98852704	splice site	probably null
R1791:Eml5	UTSW	12	98887056	missense	probably benign	0.31
R1856:Eml5	UTSW	12	98810584	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98798839	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98859961	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98876311	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98791386	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98794266	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98802446	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98810605	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98810605	missense	probably damaging	1.00
R2164:Eml5	UTSW	12	98887097	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98876223	nonsense	probably null
R2200:Eml5	UTSW	12	98825417	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98841581	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98844105	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98865401	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98865401	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98876178	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98880808	splice site	probably null
R3118:Eml5	UTSW	12	98865494	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98855989	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98816024	missense	probably damaging	1.00
R3900:Eml5	UTSW	12	98825523	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98802465	splice site	probably benign
R3976:Eml5	UTSW	12	98802465	splice site	probably benign
R4105:Eml5	UTSW	12	98841548	splice site	probably null
R4107:Eml5	UTSW	12	98841548	splice site	probably null
R4108:Eml5	UTSW	12	98841548	splice site	probably null
R4109:Eml5	UTSW	12	98841548	splice site	probably null
R4258:Eml5	UTSW	12	98865434	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98815955	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98837341	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98798852	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98802307	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98790619	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98830965	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98792616	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98874512	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98792042	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98790688	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98858783	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98794158	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98825555	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98790619	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98876188	missense	probably benign
R6113:Eml5	UTSW	12	98824674	nonsense	probably null
R6131:Eml5	UTSW	12	98861251	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98794456	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98863129	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98870884	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98798868
R6528:Eml5	UTSW	12	98824637	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98791405	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98827506	missense	probably damaging	1.00
R6751:Eml5	UTSW	12	98865400	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98887024	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98887024	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98876180	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98802474	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98825424	missense
R7644:Eml5	UTSW	12	98855944	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98792563	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98794135	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98844020	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98792514	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98858886	nonsense	probably null
T0722:Eml5	UTSW	12	98841582	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGGGATGTGCCACTATGC -3'
(R):5'- ACTGTGGACATTTTGAAAGCAG -3'

Sequencing Primer
(F):5'- GGGATGTGCCACTATGCCATTTAAAG -3'
(R):5'- TACGTAGGCACTCTGGGG -3'

Posted On

2014-10-01