Mutagenetix > Incidental Mutation

Incidental Mutation 'R3735:Eml5'

270089

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

040722-MU

Accession Numbers

Essential gene?

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

Stock #

R3735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98855989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 721 (T721I)

Ref Sequence

ENSEMBL: ENSMUSP00000065643 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065716
AA Change: T721I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: T721I

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: ENSMUST00000223282
AA Change: T760I

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.1081

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,482,098 (GRCm38)	Y123F	probably benign	Het
4921539E11Rik	C	G	4: 103,266,406 (GRCm38)	E90Q	probably damaging	Het
Acadl	G	A	1: 66,853,289 (GRCm38)	A125V	probably benign	Het
Acot12	T	A	13: 91,784,346 (GRCm38)	I487N	probably benign	Het
Acox3	A	G	5: 35,611,153 (GRCm38)	K686R	probably benign	Het
Adam17	T	C	12: 21,325,412 (GRCm38)	D802G	probably benign	Het
Aoc3	A	T	11: 101,332,219 (GRCm38)	D427V	probably damaging	Het
Bivm	C	T	1: 44,126,434 (GRCm38)	H15Y	probably benign	Het
C8a	T	C	4: 104,817,615 (GRCm38)	E509G	probably benign	Het
Ccdc158	A	C	5: 92,632,424 (GRCm38)	L930R	possibly damaging	Het
Cdca7	T	A	2: 72,483,865 (GRCm38)		probably null	Het
Cep170b	A	T	12: 112,741,004 (GRCm38)	I395F	probably damaging	Het
Champ1	T	C	8: 13,878,735 (GRCm38)	S298P	probably damaging	Het
Cyp2j8	T	A	4: 96,444,599 (GRCm38)	R503S	probably damaging	Het
Dcaf10	C	T	4: 45,348,117 (GRCm38)	T191I	probably benign	Het
Dido1	A	G	2: 180,684,036 (GRCm38)		probably benign	Het
Dnah7b	C	T	1: 46,299,875 (GRCm38)	T3361I	probably benign	Het
Dync1h1	G	A	12: 110,631,675 (GRCm38)	V1767I	probably benign	Het
F8	G	A	X: 75,211,375 (GRCm38)	P2138S	probably damaging	Het
Fam169b	G	T	7: 68,350,301 (GRCm38)	R198S	probably damaging	Het
Gm7694	A	G	1: 170,302,761 (GRCm38)	S23P	probably damaging	Het
Grk3	T	A	5: 112,953,831 (GRCm38)	T248S	probably benign	Het
Helq	T	G	5: 100,790,188 (GRCm38)	D464A	possibly damaging	Het
Ido2	C	T	8: 24,535,193 (GRCm38)	V273M	probably damaging	Het
Il12rb1	T	C	8: 70,817,218 (GRCm38)	L518P	probably damaging	Het
Kansl1l	A	G	1: 66,801,250 (GRCm38)	V297A	possibly damaging	Het
Kcnj10	A	G	1: 172,369,966 (GRCm38)	Y349C	possibly damaging	Het
Krt18	A	G	15: 102,028,501 (GRCm38)	T75A	probably benign	Het
Lrmp	G	A	6: 145,160,870 (GRCm38)		probably benign	Het
Lrp4	A	T	2: 91,498,371 (GRCm38)	I1539F	probably damaging	Het
Map3k6	T	C	4: 133,246,372 (GRCm38)	V458A	probably benign	Het
Med12l	T	A	3: 59,091,495 (GRCm38)	H614Q	probably damaging	Het
Med13	A	C	11: 86,279,658 (GRCm38)	M1850R	probably benign	Het
Mfsd13a	A	G	19: 46,368,328 (GRCm38)	Y256C	probably damaging	Het
Mogs	C	A	6: 83,116,776 (GRCm38)	T242K	possibly damaging	Het
Myo9b	T	C	8: 71,348,597 (GRCm38)	V1133A	probably benign	Het
Myom2	A	T	8: 15,069,676 (GRCm38)	H144L	probably benign	Het
Ncapg	A	T	5: 45,696,127 (GRCm38)	Q906L	probably benign	Het
Nkx1-1	C	T	5: 33,433,730 (GRCm38)	V83I	unknown	Het
Npy4r	T	A	14: 34,147,269 (GRCm38)	T21S	probably benign	Het
Nup88	A	G	11: 70,956,192 (GRCm38)	S331P	probably damaging	Het
Olfr1294	T	A	2: 111,537,896 (GRCm38)	H131L	probably damaging	Het
Olr1	T	A	6: 129,499,875 (GRCm38)		probably benign	Het
Osmr	A	T	15: 6,822,080 (GRCm38)	Y656N	probably damaging	Het
Otogl	A	T	10: 107,899,529 (GRCm38)	Y131*	probably null	Het
Pgr	G	A	9: 8,901,533 (GRCm38)	G356S	probably damaging	Het
Prdm2	T	C	4: 143,134,359 (GRCm38)	E787G	probably damaging	Het
Prpf18	A	G	2: 4,643,673 (GRCm38)	I114T	probably benign	Het
R3hdm2	T	A	10: 127,465,010 (GRCm38)	I280N	probably benign	Het
Rims4	T	C	2: 163,863,985 (GRCm38)	D243G	possibly damaging	Het
Rmnd5a	T	C	6: 71,396,862 (GRCm38)	D316G	possibly damaging	Het
Rpap2	T	C	5: 107,655,151 (GRCm38)		probably benign	Het
Sdr16c5	G	A	4: 4,005,614 (GRCm38)	T240I	probably benign	Het
Shroom3	T	C	5: 92,964,444 (GRCm38)	V1888A	possibly damaging	Het
Slc36a4	T	A	9: 15,738,273 (GRCm38)	Y466*	probably null	Het
Slco3a1	A	G	7: 74,504,497 (GRCm38)	I80T	probably damaging	Het
Sptlc2	G	A	12: 87,341,565 (GRCm38)	A381V	probably benign	Het
Stam	A	T	2: 14,129,012 (GRCm38)	Q190L	probably damaging	Het
Suclg2	T	A	6: 95,497,696 (GRCm38)	I363F	probably damaging	Het
Tacstd2	A	G	6: 67,534,859 (GRCm38)	V283A	probably damaging	Het
Tln1	G	T	4: 43,549,370 (GRCm38)	A616E	probably damaging	Het
Trdmt1	A	T	2: 13,519,873 (GRCm38)	F257Y	possibly damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790 (GRCm38)		probably null	Het
Trps1	A	G	15: 50,846,060 (GRCm38)	I298T	possibly damaging	Het
Tti2	T	C	8: 31,155,897 (GRCm38)	L413P	probably damaging	Het
Utrn	A	G	10: 12,478,484 (GRCm38)	V343A	probably damaging	Het
Vwf	G	T	6: 125,588,613 (GRCm38)	W288L	probably damaging	Het
Zfp629	T	A	7: 127,612,778 (GRCm38)		probably benign	Het
Zfp873	G	A	10: 82,061,181 (GRCm38)	S582N	probably benign	Het
Zfp979	A	G	4: 147,613,482 (GRCm38)	Y257H	possibly damaging	Het
Zfpm1	G	A	8: 122,323,736 (GRCm38)	C117Y	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
R1503:Eml5	UTSW	12	98,831,174 (GRCm38)	missense	probably damaging	0.99
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
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'- GCAGTAAAATTACAGGAGCACC -3'
(R):5'- GACAGGAAATACCATGCTTATTACC -3'

Sequencing Primer
(F):5'- CAGGAGCACCTTTGATAGTTTTAG -3'
(R):5'- GTTTCCTTTTAACAGAT -3'

Posted On

2015-03-18