Mutagenetix > Incidental Mutation

Incidental Mutation 'R1962:Eml5'

217021

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

039976-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R1962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98876311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 176 (F176S)

Ref Sequence

ENSEMBL: ENSMUSP00000065643 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065716
AA Change: F176S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: F176S

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 damaging
Transcript: ENSMUST00000223282
AA Change: F176S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,341,245	I354M	probably damaging	Het
Abca8a	T	C	11: 110,026,905		probably null	Het
Abca8b	T	C	11: 109,979,898	R143G	probably benign	Het
Actn4	T	C	7: 28,894,622	D840G	probably damaging	Het
Agpat5	T	C	8: 18,878,010	L197P	probably damaging	Het
Akr1d1	T	C	6: 37,536,048	V93A	probably benign	Het
Arap2	T	C	5: 62,676,664	K820R	possibly damaging	Het
Armc9	T	A	1: 86,207,974	C551S	probably damaging	Het
Atg7	T	C	6: 114,706,230	L418P	probably damaging	Het
Awat2	G	A	X: 100,404,559	P148S	probably damaging	Het
Brms1	C	T	19: 5,045,999	R34W	probably damaging	Het
Cbx2	A	G	11: 119,028,569	Q320R	possibly damaging	Het
Ccdc106	G	A	7: 5,059,540	D11N	possibly damaging	Het
Ccdc30	C	T	4: 119,339,791	R426Q	probably benign	Het
Cdc42bpg	T	A	19: 6,306,855	V47E	probably damaging	Het
Cep170b	C	T	12: 112,738,061	S751L	probably damaging	Het
Cfap46	A	T	7: 139,667,041	L328Q	probably damaging	Het
Crtc3	A	G	7: 80,589,931	F558L	probably damaging	Het
Cyp2d34	A	G	15: 82,618,608	V139A	probably benign	Het
Dchs1	A	G	7: 105,764,201	Y1136H	probably damaging	Het
Dhrs4	T	C	14: 55,487,603	V185A	probably damaging	Het
Dnah7b	A	G	1: 46,242,103	K2775E	possibly damaging	Het
Dst	C	A	1: 34,191,016	S2238R	possibly damaging	Het
Duox2	T	C	2: 122,297,372		probably null	Het
Dusp16	G	T	6: 134,718,136	Y577*	probably null	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Esco2	C	A	14: 65,831,533	R109S	probably damaging	Het
Galnt7	C	T	8: 57,532,714	E541K	probably benign	Het
Gbf1	C	T	19: 46,267,219	T707I	probably damaging	Het
Gdf5	A	G	2: 155,941,752	C427R	probably damaging	Het
Glyctk	T	C	9: 106,157,865	M1V	probably null	Het
Gm5478	T	C	15: 101,644,395	E367G	probably damaging	Het
Gm9268	T	C	7: 43,047,400	V620A	probably benign	Het
Golga7b	G	A	19: 42,263,329	V5I	probably benign	Het
Gpt2	T	C	8: 85,493,135	L70P	probably damaging	Het
Gsdmc3	C	A	15: 63,858,466	Q416H	probably damaging	Het
Hoxb5	A	G	11: 96,304,092	E160G	probably benign	Het
Ift81	A	T	5: 122,560,709	Y532N	probably benign	Het
Igf1	G	A	10: 87,864,864	C66Y	probably damaging	Het
Igf1r	T	C	7: 68,207,275	V995A	probably damaging	Het
Ip6k1	T	C	9: 108,041,088		probably null	Het
Jaml	T	C	9: 45,104,197	I333T	possibly damaging	Het
Kdm4c	T	C	4: 74,307,016		probably benign	Het
Kdm6b	T	C	11: 69,401,365		probably benign	Het
Krt6a	C	T	15: 101,691,465	R404H	probably damaging	Het
Larp4b	C	A	13: 9,136,842	H69N	probably benign	Het
Lcat	A	T	8: 105,941,723	W222R	probably damaging	Het
Lrrc40	T	A	3: 158,040,449	C54S	probably benign	Het
Mcpt9	T	A	14: 56,027,567	H159L	probably benign	Het
Megf8	T	C	7: 25,363,551	V2444A	probably damaging	Het
Memo1	T	C	17: 74,245,008	T98A	possibly damaging	Het
Micalcl	A	T	7: 112,412,844	I634L	probably benign	Het
Mov10	C	T	3: 104,796,977	R835Q	probably damaging	Het
Mybpc1	A	T	10: 88,548,826	L546Q	probably damaging	Het
Myo6	T	C	9: 80,260,835	V427A	probably damaging	Het
Myom2	T	A	8: 15,132,599		probably null	Het
Mzt2	G	A	16: 15,848,679	R125C	probably damaging	Het
Neb	T	A	2: 52,272,937	R2031*	probably null	Het
Nphp3	T	C	9: 104,021,338	S447P	probably benign	Het
Nrp2	T	A	1: 62,718,931	D25E	probably benign	Het
Nts	A	G	10: 102,485,057	L57S	probably damaging	Het
Nudt9	G	A	5: 104,065,105	R348H	probably benign	Het
Olfr1299	T	C	2: 111,664,889	I221T	probably damaging	Het
Olfr198	T	A	16: 59,201,908	I173F	possibly damaging	Het
Olfr211	C	T	6: 116,493,764	P52S	probably benign	Het
Olfr401	C	A	11: 74,121,824	D178E	probably benign	Het
Olfr976	T	C	9: 39,956,683	Y84C	probably benign	Het
Pafah1b1	T	C	11: 74,699,351		probably benign	Het
Piezo2	C	A	18: 63,078,840	M1291I	probably damaging	Het
Pik3ca	T	C	3: 32,443,867	F486S	probably benign	Het
Podnl1	C	T	8: 84,127,297	H99Y	probably benign	Het
Prdm6	A	T	18: 53,568,161	Y341F	probably damaging	Het
Prr5l	C	T	2: 101,758,509		probably null	Het
Psmd4	G	T	3: 95,036,701	T24N	possibly damaging	Het
Rbbp8nl	G	A	2: 180,280,874	T242M	probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,579,906		probably benign	Het
Rsf1	GCG	GCGACG	7: 97,579,907		probably benign	Het
Scfd1	T	C	12: 51,422,986	V438A	probably benign	Het
Scn9a	A	G	2: 66,484,311	C1677R	probably damaging	Het
Sgsm2	T	A	11: 74,892,028	H34L	probably damaging	Het
Shank1	T	A	7: 44,344,323		probably null	Het
Smarca2	G	T	19: 26,672,724	E24*	probably null	Het
Sncaip	C	T	18: 52,871,362	H354Y	probably damaging	Het
St8sia2	T	A	7: 73,943,309	D333V	probably damaging	Het
Stxbp2	C	A	8: 3,642,672	R575S	probably benign	Het
Syt9	T	A	7: 107,425,107	V69D	probably damaging	Het
Tanc2	A	G	11: 105,798,732	N240S	probably benign	Het
Tcl1b1	T	C	12: 105,164,468	L70S	probably benign	Het
Tmem44	C	T	16: 30,543,401		probably null	Het
Tor1b	A	G	2: 30,956,919	R293G	probably benign	Het
Trim29	T	C	9: 43,311,318	V148A	probably benign	Het
Trmt10b	C	A	4: 45,314,378	Y271*	probably null	Het
Ubqln5	A	T	7: 104,128,888	V243E	possibly damaging	Het
Ubqln5	T	C	7: 104,128,927	D230G	probably damaging	Het
Ugt2b37	A	G	5: 87,254,334	F146S	probably damaging	Het
Vmn1r160	T	A	7: 22,871,402	V60E	probably damaging	Het
Vmn2r109	T	A	17: 20,553,923	D390V	probably damaging	Het
Vmn2r27	C	T	6: 124,223,834	R388Q	possibly damaging	Het
Vmn2r72	A	T	7: 85,749,161	V537D	probably benign	Het
Vmn2r84	A	G	10: 130,390,722	S416P	probably damaging	Het
Vmn2r98	C	A	17: 19,065,333	Y138*	probably null	Het
Xrra1	A	C	7: 99,911,020	E401A	probably damaging	Het
Zfp280d	T	A	9: 72,335,080	C688*	probably null	Het
Zfp3	T	A	11: 70,772,128	Y304*	probably null	Het
Zfp407	A	T	18: 84,559,336	D1217E	probably benign	Het
Zfp658	T	C	7: 43,573,821	Y507H	possibly damaging	Het
Zfyve16	T	C	13: 92,522,744	T220A	possibly damaging	Het
Zmym4	C	G	4: 126,902,670	K820N	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
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
R2158:Eml5	UTSW	12	98843946	splice site	probably benign
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
R8482:Eml5	UTSW	12	98876301	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98815959	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98852693	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98810570	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98858840	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98844117	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98856028	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98798801	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98882033	nonsense	probably null
R9368:Eml5	UTSW	12	98796578	missense	probably benign	0.31
R9392:Eml5	UTSW	12	98900940	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98876174	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98861295	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98815984	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98841582	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CTTACAGTATGGGCTCCTTGTATTG -3'
(R):5'- ACCGATAAGGATTGAAACTAGTGAC -3'

Sequencing Primer
(F):5'- TGTTCGTATAAGATTGATTCCTTTCC -3'
(R):5'- GGATTGAAACTAGTGACTAATCTGC -3'

Posted On

2014-08-01