Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02801:Eml5'

360174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98817845 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1361 (V1361A)

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: V1314A

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: V1314A

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

unknown
Transcript: ENSMUST00000222128
AA Change: V143A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222872

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223282
AA Change: V1361A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,328,995	K400N	probably benign	Het
Aox2	A	T	1: 58,354,177	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,291,507	L10Q	probably damaging	Het
Arl10	T	C	13: 54,575,883	V106A	probably benign	Het
Bmi1	T	C	2: 18,681,881	Y24H	probably damaging	Het
Cd163	T	A	6: 124,320,529	I878K	probably benign	Het
Col12a1	A	G	9: 79,608,414		probably null	Het
Csmd2	T	C	4: 128,552,075		probably null	Het
Dcp2	G	T	18: 44,417,711	M417I	probably damaging	Het
Ddx11	T	A	17: 66,148,033	C662S	probably benign	Het
Dhx29	G	A	13: 112,964,646	C1241Y	probably damaging	Het
Dnajc6	C	T	4: 101,597,813	P37L	probably benign	Het
Dqx1	A	G	6: 83,060,495		probably null	Het
Dzip1	T	A	14: 118,885,655	K643*	probably null	Het
Ecel1	A	G	1: 87,152,003	S463P	probably damaging	Het
Fads2	C	A	19: 10,082,645	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,593,317	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,441,076	F199S	possibly damaging	Het
Frem2	A	G	3: 53,652,175	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,912,393	S442P	probably damaging	Het
Gprin3	T	C	6: 59,354,981	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,706,568	E27G	probably damaging	Het
Isl2	A	G	9: 55,545,532		probably null	Het
Lamc2	T	A	1: 153,136,783	H715L	probably benign	Het
Lrif1	T	C	3: 106,734,614	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,578,346	N254S	possibly damaging	Het
Med13l	T	C	5: 118,745,113	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930	I570T	probably damaging	Het
Mlkl	G	A	8: 111,316,432	T361M	probably benign	Het
Myo1f	T	A	17: 33,578,137	M94K	probably damaging	Het
Naip1	A	G	13: 100,444,368	C124R	probably damaging	Het
Nek1	G	A	8: 61,121,061		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Pde1c	G	T	6: 56,173,666	N289K	probably damaging	Het
Pfas	G	A	11: 68,988,277		probably benign	Het
Pms2	A	T	5: 143,925,835	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,307,684	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,878,827	I435V	probably benign	Het
Psip1	C	T	4: 83,458,120	S494N	probably benign	Het
Ranbp3	T	C	17: 56,710,766	V474A	probably benign	Het
Rnf220	C	T	4: 117,273,251	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603	I99V	probably benign	Het
Slc36a1	A	T	11: 55,226,053	I303F	probably benign	Het
Slc4a1	C	T	11: 102,359,146		probably null	Het
Syncrip	A	T	9: 88,479,809	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,830	Y593H	probably damaging	Het
Tenm2	G	T	11: 36,047,030	Y1605*	probably null	Het
Tmem135	T	A	7: 89,154,125	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,122	Q211L	probably benign	Het
Txlna	T	C	4: 129,640,408	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,448,632	I4V	probably benign	Het
Wdfy3	A	G	5: 101,907,587	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,726,819		probably null	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
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	not run
T0722:Eml5	UTSW	12	98841582	missense	probably null	1.00

Posted On

2015-12-18