Mutagenetix > Incidental Mutation

Incidental Mutation 'R9301:Eml5'

704964

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R9301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98882033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 133 (C133*)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

probably null
Transcript: ENSMUST00000065716
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: C133*

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 null
Transcript: ENSMUST00000223282
AA Change: C133*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,087,479	N514K	probably benign	Het
Adssl1	A	T	12: 112,636,448	R358W	probably damaging	Het
Anxa8	T	A	14: 34,097,975	I307N	probably damaging	Het
Atad5	T	A	11: 80,096,019	I644N	probably damaging	Het
Atp5a1	G	T	18: 77,781,238	L437F	probably damaging	Het
Babam1	A	G	8: 71,403,040	K259R	possibly damaging	Het
BC048562	T	G	9: 108,445,855	F130V	probably damaging	Het
Camsap2	T	A	1: 136,274,902		probably null	Het
Ccne2	A	G	4: 11,192,881	I27M	probably benign	Het
Cd302	A	G	2: 60,252,449	V177A	possibly damaging	Het
Cfap46	T	C	7: 139,642,545	K1172R		Het
Cic	T	C	7: 25,291,692	W2141R	probably damaging	Het
Cpeb3	A	G	19: 37,174,073	V301A	possibly damaging	Het
Cpsf3	A	G	12: 21,300,111	K277R	possibly damaging	Het
Cstl1	A	G	2: 148,751,006	H27R	possibly damaging	Het
Dapk1	T	A	13: 60,718,311	I188K	possibly damaging	Het
Dock6	T	C	9: 21,817,815	T1301A	probably benign	Het
Ermap	T	A	4: 119,185,547	I260F	probably damaging	Het
Fbxw22	T	G	9: 109,386,585	E198D	possibly damaging	Het
Flt4	T	C	11: 49,625,414	Y115H	possibly damaging	Het
Fmo9	A	C	1: 166,667,225	I369S	probably damaging	Het
Frmd4a	T	A	2: 4,153,093	S6T	probably benign	Het
Gm20075	T	A	13: 96,081,113	K73*	probably null	Het
Golga5	A	T	12: 102,476,798	I330L	probably benign	Het
Helq	C	A	5: 100,779,292	V643F	probably damaging	Het
Ino80d	A	T	1: 63,065,810	L369H	probably damaging	Het
Kank1	A	T	19: 25,411,434	M824L	probably benign	Het
Lilr4b	T	C	10: 51,480,705		probably benign	Het
Ltbp4	T	A	7: 27,322,153	D1003V	probably damaging	Het
Mapk8ip2	T	C	15: 89,457,683	S366P	probably damaging	Het
Mdga1	T	C	17: 29,850,538	H178R	probably benign	Het
Mlh3	A	G	12: 85,245,839	V1266A	possibly damaging	Het
Nrp1	A	G	8: 128,363,378	E78G	probably damaging	Het
Olfr1080	A	G	2: 86,553,474	S217P	possibly damaging	Het
Olfr1155	A	G	2: 87,942,953	V225A	probably benign	Het
Olfr1427	A	T	19: 12,099,462	M59K	probably damaging	Het
Olfr365	A	T	2: 37,201,243	M1L	probably benign	Het
Ovch2	A	G	7: 107,796,608	S68P	probably damaging	Het
Pappa2	T	A	1: 158,845,044	I1110F	probably damaging	Het
Pcyox1	A	C	6: 86,392,259	L195R	possibly damaging	Het
Pde11a	A	G	2: 76,017,873	L870P	probably damaging	Het
Pgpep1	G	A	8: 70,650,768	T152M	probably damaging	Het
Pik3c2a	A	T	7: 116,346,178	D1464E	probably damaging	Het
Plcb1	A	G	2: 135,325,690	K468R	possibly damaging	Het
Postn	C	T	3: 54,385,238	T742I	probably benign	Het
Ppm1j	T	A	3: 104,783,741	Y274N	probably damaging	Het
Ppp2cb	T	C	8: 33,600,010	C32R	possibly damaging	Het
Prmt9	T	A	8: 77,555,745	Y90*	probably null	Het
Ptk2	T	C	15: 73,274,497	Y441C	probably damaging	Het
Rabggta	T	A	14: 55,719,626	I266L	probably benign	Het
Rft1	C	T	14: 30,676,855	R261W	probably damaging	Het
Rsrc1	C	T	3: 67,290,347	A195V	probably damaging	Het
Rtkn2	T	G	10: 68,035,847	L355R	possibly damaging	Het
Runx1t1	A	T	4: 13,875,477	D427V	possibly damaging	Het
Slc15a4	T	G	5: 127,596,748	H534P	probably benign	Het
Slc16a7	T	C	10: 125,231,011	N253S	probably damaging	Het
Slc29a1	A	G	17: 45,586,137	S408P	probably damaging	Het
Slc52a2	G	A	15: 76,540,206	A215T	probably damaging	Het
Smc1b	T	A	15: 85,127,794	I126L	probably damaging	Het
Sycp2	A	T	2: 178,381,857	N455K	probably benign	Het
Tbck	T	C	3: 132,837,977	V863A	probably benign	Het
Tfap2c	A	G	2: 172,553,427	M263V	probably benign	Het
Tmem45a	A	G	16: 56,806,771	V245A	probably damaging	Het
Top2a	C	T	11: 99,006,964	G759D	probably damaging	Het
Traf5	A	G	1: 191,997,528	S218P		Het
Tsfm	T	C	10: 127,030,633	R20G	probably benign	Het
Ugt2a2	G	T	5: 87,460,523	Q486K	probably damaging	Het
Usp34	T	A	11: 23,472,951	D3108E		Het
Wnt11	A	G	7: 98,846,589	Y100C	probably damaging	Het
Zbtb49	A	G	5: 38,213,587	C317R	probably benign	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
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
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'- CACCAGGCCACAATCTAAGATTTTATG -3'
(R):5'- TGCAATGAATACATCTGTCTGCC -3'

Sequencing Primer
(F):5'- CCGTCTAAAGTTTACAAACCAATGG -3'
(R):5'- GAATACATCTGTCTGCCTTAAAGG -3'

Posted On

2022-03-25