Mutagenetix > Incidental Mutation

Incidental Mutation 'R9276:Eml5'

703325

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 #

R9276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98798801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1630 (K1630E)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065716
AA Change: K1583E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: K1583E

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: K1630E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,942,688	R102S	probably benign	Het
Acvr2b	C	T	9: 119,402,550	T2M	probably benign	Het
Adamtsl3	A	G	7: 82,557,502		probably benign	Het
Adcy7	A	G	8: 88,325,386	Y894C	probably damaging	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Amt	C	A	9: 108,301,211	T339K	probably benign	Het
Ankrd27	G	T	7: 35,620,570	V639L	probably benign	Het
Anxa10	G	T	8: 62,096,719	Q31K	probably damaging	Het
Ap1g2	T	C	14: 55,102,361	T454A	probably benign	Het
Boll	A	T	1: 55,360,653	I43N	possibly damaging	Het
Cacna1c	T	C	6: 118,624,433	D1472G		Het
Calcrl	T	C	2: 84,375,299	N16S	probably benign	Het
Ccdc191	C	T	16: 43,943,678	Q501*	probably null	Het
Cchcr1	T	C	17: 35,530,208	L658P	probably damaging	Het
Cfap46	A	T	7: 139,621,291	C1919S	unknown	Het
Col6a3	G	A	1: 90,807,681	L1356F	possibly damaging	Het
Dlc1	A	G	8: 36,579,404	S680P	possibly damaging	Het
Dock4	T	G	12: 40,649,405	M206R	possibly damaging	Het
Fam206a	A	T	4: 56,806,141	K184N	probably benign	Het
Fat1	A	G	8: 45,035,477	T3432A	probably damaging	Het
Fcrl5	G	T	3: 87,435,831		probably benign	Het
Fcrla	A	G	1: 170,927,566		probably benign	Het
Fut4	C	A	9: 14,751,276	D241Y	probably benign	Het
Fzd6	A	G	15: 39,007,567		probably benign	Het
Gjc2	T	C	11: 59,177,627	T10A	probably damaging	Het
Gle1	C	T	2: 29,939,502	H203Y	possibly damaging	Het
Gm5565	A	T	5: 146,160,107	I74N	probably damaging	Het
Gm5615	A	T	9: 36,534,431	C75S	probably damaging	Het
Gnl2	T	A	4: 125,053,457	I624K	possibly damaging	Het
Gnpat	C	A	8: 124,887,785	N653K	probably benign	Het
Gstcd	A	G	3: 133,071,904	L382S	probably damaging	Het
Ipcef1	A	G	10: 6,907,936		probably benign	Het
Jmjd7	T	C	2: 120,030,414	V115A	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Ltbp2	T	G	12: 84,830,111	D440A	possibly damaging	Het
Macf1	T	G	4: 123,434,708	D4744A	probably damaging	Het
Mapk11	T	C	15: 89,145,169	D230G	probably damaging	Het
Mfsd6	A	C	1: 52,708,355	Y450*	probably null	Het
Mtmr9	A	G	14: 63,543,552	C30R	probably damaging	Het
Ncf1	G	A	5: 134,221,839	Q376*	probably null	Het
Ncor2	C	A	5: 125,036,086	R296M		Het
Olfr1077-ps1	A	T	2: 86,526,048	L43*	probably null	Het
Olfr1164	A	G	2: 88,093,462	V158A	probably benign	Het
Olfr145	C	A	9: 37,898,119	S238R	probably benign	Het
Olfr175-ps1	A	G	16: 58,824,371	F113L	probably benign	Het
Olfr615	A	T	7: 103,560,797	T107S	probably damaging	Het
Olfr983	A	T	9: 40,092,336	I210K	possibly damaging	Het
Pcsk6	A	T	7: 65,910,202	I92F	probably damaging	Het
Plec	A	G	15: 76,176,245	V3164A	probably benign	Het
Prss16	A	G	13: 22,006,005		probably benign	Het
Ptch2	T	A	4: 117,110,308	H724Q	probably damaging	Het
Pzp	A	T	6: 128,522,114	F190Y	probably damaging	Het
Rab6a	A	G	7: 100,626,602	T41A	probably benign	Het
Rbm6	A	G	9: 107,783,727	L879P	probably damaging	Het
Rem1	T	A	2: 152,628,049		probably benign	Het
Rnf17	T	C	14: 56,482,097	S935P	probably damaging	Het
Ryr1	C	A	7: 29,102,829	V789L	probably damaging	Het
Scgb2b3	A	T	7: 31,360,103	M82K	possibly damaging	Het
Sgce	T	A	6: 4,674,585	L451F	probably damaging	Het
Slc25a17	A	C	15: 81,323,613	V258G	probably benign	Het
Spidr	G	A	16: 15,966,848	T452I	probably benign	Het
Tas2r129	A	G	6: 132,951,613	N171S	probably benign	Het
Tbc1d24	A	T	17: 24,186,140	V10E	probably damaging	Het
Tdo2	T	G	3: 81,969,578	M115L	probably benign	Het
Tdrd9	T	C	12: 112,014,501		probably null	Het
Tead1	T	A	7: 112,894,394	I376N	probably damaging	Het
Tmem26	A	G	10: 68,778,658	H301R	possibly damaging	Het
Tnxb	A	G	17: 34,710,160	T2726A	possibly damaging	Het
Trim43c	T	C	9: 88,841,913	M164T	probably benign	Het
Trpc1	G	A	9: 95,708,235	S723L	probably benign	Het
Txndc15	A	G	13: 55,718,101	D126G	probably benign	Het
Urb1	C	T	16: 90,772,575		probably benign	Het
Usp25	C	T	16: 77,113,833	H926Y	probably benign	Het
Uvssa	T	A	5: 33,414,836	M700K	possibly damaging	Het
Vdac1	T	A	11: 52,383,962	Y146N	probably damaging	Het
Vmn1r231	A	T	17: 20,890,298	S118R	probably benign	Het
Vmn1r41	A	G	6: 89,747,098	Y207C	probably damaging	Het
Vmn2r79	A	G	7: 87,037,837	I809V	probably damaging	Het
Vnn1	G	A	10: 23,900,896	G382R	probably damaging	Het
Xcr1	A	T	9: 123,856,615	H27Q	probably benign	Het
Yeats2	T	A	16: 20,157,036	N94K	probably benign	Het
Zfp28	C	T	7: 6,394,441	T625M	probably damaging	Het
Zfp521	T	C	18: 13,844,641	Q905R	probably benign	Het
Zfp804b	T	C	5: 6,771,398	D555G	probably 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
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
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'- TAGAACCCTGGCTGCAGTTC -3'
(R):5'- GCGAGCTCTCTTTGAACTTTTG -3'

Sequencing Primer
(F):5'- GTTTGGCCTCAATGCACACAG -3'
(R):5'- CGAGCTCTCTTTGAACTTTTGATGAG -3'

Posted On

2022-03-25