Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Eml5'

169476

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98831174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 1059 (L1059I)

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: L1020I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: L1020I

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

noncoding transcript
Transcript: ENSMUST00000221662

Predicted Effect

probably benign
Transcript: ENSMUST00000222128

Predicted Effect

probably damaging
Transcript: ENSMUST00000223282
AA Change: L1059I

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 57,338,562 (GRCm38)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867 (GRCm38)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424 (GRCm38)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm38)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510 (GRCm38)	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655 (GRCm38)	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946 (GRCm38)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280 (GRCm38)	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989 (GRCm38)	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525 (GRCm38)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239 (GRCm38)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478 (GRCm38)	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847 (GRCm38)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575 (GRCm38)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034 (GRCm38)	D189G	probably benign	Het
Cit	T	A	5: 115,873,900 (GRCm38)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565 (GRCm38)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799 (GRCm38)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179 (GRCm38)		probably null	Het
Dmxl2	A	T	9: 54,446,988 (GRCm38)	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692 (GRCm38)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660 (GRCm38)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073 (GRCm38)	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679 (GRCm38)	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301 (GRCm38)	M277K	possibly damaging	Het
Erbb4	G	T	1: 68,346,546 (GRCm38)	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874 (GRCm38)	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477 (GRCm38)	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018 (GRCm38)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337 (GRCm38)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529 (GRCm38)		probably null	Het
Gml2	C	A	15: 74,821,352 (GRCm38)	S68*	probably null	Het
Gphn	A	G	12: 78,504,629 (GRCm38)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819 (GRCm38)	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432 (GRCm38)	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025 (GRCm38)	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781 (GRCm38)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm38)	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121 (GRCm38)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492 (GRCm38)	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408 (GRCm38)	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438 (GRCm38)	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909 (GRCm38)	W241*	probably null	Het
Krt32	T	C	11: 100,084,110 (GRCm38)		probably null	Het
Loxl1	A	G	9: 58,293,640 (GRCm38)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923 (GRCm38)	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291 (GRCm38)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672 (GRCm38)	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674 (GRCm38)	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817 (GRCm38)	T952A	probably benign	Het
Neb	T	C	2: 52,298,620 (GRCm38)	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204 (GRCm38)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331 (GRCm38)	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436 (GRCm38)	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528 (GRCm38)	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179 (GRCm38)	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471 (GRCm38)	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312 (GRCm38)	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873 (GRCm38)	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568 (GRCm38)		probably null	Het
Olfr750	A	G	14: 51,070,734 (GRCm38)	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519 (GRCm38)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804 (GRCm38)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399 (GRCm38)	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022 (GRCm38)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826 (GRCm38)	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929 (GRCm38)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289 (GRCm38)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911 (GRCm38)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376 (GRCm38)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992 (GRCm38)	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928 (GRCm38)	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019 (GRCm38)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877 (GRCm38)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400 (GRCm38)	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136 (GRCm38)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653 (GRCm38)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137 (GRCm38)	A83V	possibly damaging	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98,873,209 (GRCm38)	splice site	probably benign
IGL00473:Eml5	APN	12	98,805,492 (GRCm38)	splice site	probably benign
IGL01120:Eml5	APN	12	98,844,019 (GRCm38)	missense	probably benign
IGL01308:Eml5	APN	12	98,802,313 (GRCm38)	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98,798,932 (GRCm38)	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98,863,280 (GRCm38)	missense	probably benign
IGL02182:Eml5	APN	12	98,802,322 (GRCm38)	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98,794,424 (GRCm38)	splice site	probably benign
IGL02375:Eml5	APN	12	98,844,087 (GRCm38)	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98,790,674 (GRCm38)	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98,876,243 (GRCm38)	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98,817,845 (GRCm38)	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98,858,841 (GRCm38)	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98,861,245 (GRCm38)	nonsense	probably null
IGL03158:Eml5	APN	12	98,827,514 (GRCm38)	splice site	probably benign
IGL03286:Eml5	APN	12	98,860,503 (GRCm38)	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98,874,647 (GRCm38)	splice site	probably benign
BB010:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98,824,772 (GRCm38)	splice site	probably null
R0624:Eml5	UTSW	12	98,865,479 (GRCm38)	missense	probably damaging	1.00
R0993:Eml5	UTSW	12	98,861,183 (GRCm38)	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98,830,973 (GRCm38)	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98,792,046 (GRCm38)	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98,831,003 (GRCm38)	splice site	probably benign
R1469:Eml5	UTSW	12	98,858,823 (GRCm38)	missense	probably benign
R1469:Eml5	UTSW	12	98,858,823 (GRCm38)	missense	probably benign
R1538:Eml5	UTSW	12	98,794,276 (GRCm38)	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98,830,935 (GRCm38)	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98,798,839 (GRCm38)	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98,852,704 (GRCm38)	splice site	probably null
R1791:Eml5	UTSW	12	98,887,056 (GRCm38)	missense	probably benign	0.31
R1856:Eml5	UTSW	12	98,810,584 (GRCm38)	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98,798,839 (GRCm38)	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98,859,961 (GRCm38)	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98,876,311 (GRCm38)	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98,791,386 (GRCm38)	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98,794,266 (GRCm38)	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98,802,446 (GRCm38)	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98,810,605 (GRCm38)	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98,810,605 (GRCm38)	missense	probably damaging	1.00
R2158:Eml5	UTSW	12	98,843,946 (GRCm38)	splice site	probably benign
R2164:Eml5	UTSW	12	98,887,097 (GRCm38)	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98,876,223 (GRCm38)	nonsense	probably null
R2200:Eml5	UTSW	12	98,825,417 (GRCm38)	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98,841,581 (GRCm38)	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98,844,105 (GRCm38)	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98,865,401 (GRCm38)	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98,865,401 (GRCm38)	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98,876,178 (GRCm38)	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98,880,808 (GRCm38)	splice site	probably null
R3118:Eml5	UTSW	12	98,865,494 (GRCm38)	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98,855,989 (GRCm38)	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98,816,024 (GRCm38)	missense	probably damaging	1.00
R3900:Eml5	UTSW	12	98,825,523 (GRCm38)	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98,802,465 (GRCm38)	splice site	probably benign
R3976:Eml5	UTSW	12	98,802,465 (GRCm38)	splice site	probably benign
R4105:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4107:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4108:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4109:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4258:Eml5	UTSW	12	98,865,434 (GRCm38)	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98,815,955 (GRCm38)	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98,837,341 (GRCm38)	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98,798,852 (GRCm38)	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98,802,307 (GRCm38)	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98,790,619 (GRCm38)	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98,830,965 (GRCm38)	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98,792,616 (GRCm38)	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98,874,512 (GRCm38)	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98,792,042 (GRCm38)	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98,790,688 (GRCm38)	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98,858,783 (GRCm38)	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98,794,158 (GRCm38)	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98,825,555 (GRCm38)	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98,790,619 (GRCm38)	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98,876,188 (GRCm38)	missense	probably benign
R6113:Eml5	UTSW	12	98,824,674 (GRCm38)	nonsense	probably null
R6131:Eml5	UTSW	12	98,861,251 (GRCm38)	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98,794,456 (GRCm38)	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98,863,129 (GRCm38)	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98,870,884 (GRCm38)	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98,798,868 (GRCm38)
R6528:Eml5	UTSW	12	98,824,637 (GRCm38)	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98,791,405 (GRCm38)	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98,827,506 (GRCm38)	missense	probably damaging	1.00
R6751:Eml5	UTSW	12	98,865,400 (GRCm38)	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98,887,024 (GRCm38)	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98,887,024 (GRCm38)	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98,876,180 (GRCm38)	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98,802,474 (GRCm38)	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98,825,424 (GRCm38)	missense
R7644:Eml5	UTSW	12	98,855,944 (GRCm38)	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98,792,563 (GRCm38)	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98,794,135 (GRCm38)	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98,792,514 (GRCm38)	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98,858,886 (GRCm38)	nonsense	probably null
R8482:Eml5	UTSW	12	98,876,301 (GRCm38)	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98,815,959 (GRCm38)	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98,852,693 (GRCm38)	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98,810,570 (GRCm38)	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98,858,840 (GRCm38)	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98,844,117 (GRCm38)	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98,856,028 (GRCm38)	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98,798,801 (GRCm38)	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98,882,033 (GRCm38)	nonsense	probably null
R9368:Eml5	UTSW	12	98,796,578 (GRCm38)	missense	probably benign	0.31
R9392:Eml5	UTSW	12	98,900,940 (GRCm38)	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98,876,174 (GRCm38)	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98,861,295 (GRCm38)	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98,815,984 (GRCm38)	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98,841,582 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTAGGTATTTCCCAGAACCTGC -3'
(R):5'- AGCTTGCCGAATAGCTTGCTGTC -3'

Sequencing Primer
(F):5'- GCAACAGAAACATCTGTCTACATTG -3'
(R):5'- TAAAGATTGCATTTGCCCCAC -3'

Posted On

2014-04-13