Mutagenetix > Incidental Mutation

Incidental Mutation 'R7842:Eml5'

606398

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

045896-MU

Accession Numbers

Essential gene?

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

Stock #

R7842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98794135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1785 (R1785Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065716
AA Change: R1738Q

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: R1738Q

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: ENSMUST00000222097

Predicted Effect

probably damaging
Transcript: ENSMUST00000223282
AA Change: R1785Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,953,536	T3A	unknown	Het
4933412E24Rik	T	C	15: 60,016,573	E6G	probably damaging	Het
Abca6	A	G	11: 110,196,697	L1135P	possibly damaging	Het
Agps	A	G	2: 75,851,532	D113G	probably damaging	Het
Ankhd1	G	T	18: 36,647,828	V1978L	probably benign	Het
Ankrd31	T	A	13: 96,821,458		probably null	Het
Arhgap5	T	A	12: 52,518,697	M817K	possibly damaging	Het
Bdp1	C	A	13: 100,099,129	V105F	probably damaging	Het
Brdt	A	G	5: 107,348,588	N189D	possibly damaging	Het
Ccdc180	A	T	4: 45,909,428	N532I	probably benign	Het
Ccnc	A	C	4: 21,730,480	K39T	probably damaging	Het
Cfap57	C	A	4: 118,554,755	G1231*	probably null	Het
Chd7	A	T	4: 8,854,115	T1896S	probably benign	Het
Clk4	A	T	11: 51,281,129	H412L	probably benign	Het
Creld1	T	C	6: 113,488,139	L109P	probably damaging	Het
Cxxc4	A	T	3: 134,240,332	I225L	possibly damaging	Het
Cyp4f39	A	T	17: 32,483,317	R263W	probably benign	Het
Dip2c	T	C	13: 9,606,533		probably null	Het
Dnah14	A	G	1: 181,627,898	T863A	probably damaging	Het
Dnah17	C	A	11: 118,079,682		probably null	Het
Dnajc10	A	G	2: 80,345,065	K599E	probably benign	Het
Dnajc7	C	A	11: 100,598,718	R101L	probably benign	Het
Dnttip2	G	A	3: 122,276,341	E402K	probably benign	Het
Dusp22	T	A	13: 30,668,791		probably null	Het
Egflam	C	A	15: 7,251,194	R450M	probably null	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fam45a	G	A	19: 60,830,879	A263T	not run	Het
Fam78b	G	T	1: 167,001,609	R15L	probably damaging	Het
Fbxl5	A	T	5: 43,758,603	I489N	probably damaging	Het
Flt3	G	A	5: 147,334,453	P893S	probably damaging	Het
Gm17019	T	C	5: 15,031,035	M131V	possibly damaging	Het
Gm21560	T	A	14: 6,216,262	I194F	probably benign	Het
Gm28729	T	C	9: 96,517,652	D158G	probably damaging	Het
Gucy2c	C	T	6: 136,769,816		probably null	Het
Hectd1	C	T	12: 51,772,560	G1247S	probably damaging	Het
Ireb2	T	A	9: 54,909,686	I946K	probably benign	Het
Itgb4	A	T	11: 115,982,705	D249V	probably benign	Het
Klhdc7a	A	G	4: 139,967,238	S133P	probably damaging	Het
Lsr	A	T	7: 30,966,012	D172E	possibly damaging	Het
Macf1	T	C	4: 123,526,909	E184G	probably benign	Het
Map2	T	A	1: 66,416,411	D1421E	probably benign	Het
Map3k4	A	T	17: 12,271,143	L467H	possibly damaging	Het
Mogat1	T	C	1: 78,522,865		probably null	Het
Mxra8	A	G	4: 155,842,910	D384G	probably damaging	Het
Myo15b	A	G	11: 115,871,495	T1214A		Het
Naip1	T	C	13: 100,426,998	Y553C	probably damaging	Het
Nln	A	T	13: 104,052,629	I278K	probably benign	Het
Nsmaf	T	A	4: 6,435,109		probably null	Het
Nynrin	A	G	14: 55,865,096	R741G	probably damaging	Het
Olfr1045	G	T	2: 86,198,172	Y193*	probably null	Het
Olfr1166	C	T	2: 88,124,986		probably benign	Het
Olfr1208	A	G	2: 88,896,961	V212A	possibly damaging	Het
Olfr603	A	G	7: 103,383,576	V142A	probably benign	Het
Orc1	A	G	4: 108,605,547	H607R	probably benign	Het
Pate2	A	T	9: 35,670,533	Y41F	probably damaging	Het
Pcdhb20	A	T	18: 37,505,059	T213S	possibly damaging	Het
Pcm1	G	A	8: 41,327,584	E1858K	possibly damaging	Het
Pla2g2d	A	G	4: 138,778,778	T59A	probably damaging	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Prl2c2	A	G	13: 13,005,322	L2P	probably benign	Het
Proz	G	A	8: 13,063,406	V76I	probably benign	Het
Prr36	A	G	8: 4,210,953	S955P	probably benign	Het
Pter	T	C	2: 12,978,541	V119A	probably damaging	Het
Qrich1	T	A	9: 108,556,368		probably null	Het
Rbm15b	T	C	9: 106,885,889	E360G	probably damaging	Het
Skint11	G	A	4: 114,244,771	C327Y	possibly damaging	Het
Spag17	T	A	3: 100,053,858	S987T	probably benign	Het
Tbx1	T	C	16: 18,586,615	S100G	unknown	Het
Tiam2	C	T	17: 3,518,124	S1515L	possibly damaging	Het
Togaram1	C	A	12: 64,966,459	D161E	probably damaging	Het
Trhde	A	T	10: 114,696,098	S366T	possibly damaging	Het
Ttc12	A	G	9: 49,438,424	I691T	possibly damaging	Het
Ube4a	A	G	9: 44,949,727		probably null	Het
Uggt2	A	T	14: 118,998,104	I1453N	probably damaging	Het
Unc79	T	C	12: 103,092,054	S972P	probably damaging	Het
Wdr20	G	A	12: 110,738,215	D63N	probably benign	Het
Wdr66	T	C	5: 123,254,424	V207A	unknown	Het
Wls	T	A	3: 159,873,179	I126N	probably benign	Het
Xirp2	A	G	2: 67,524,945	D3350G	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
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'- TTGTGTCAAAGGCATGAAGC -3'
(R):5'- CTCAACTGCTAGCTTTAACTTGG -3'

Sequencing Primer
(F):5'- CCATAGGTATGGTTTCCCCC -3'
(R):5'- GTAATTGTTTCCTGTGACTCTTGC -3'

Posted On

2019-12-20