Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Eml5'

550227

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

045185-MU

Accession Numbers

Essential gene?

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

Stock #

R7091 (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 98802474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1400 (I1400M)

Ref Sequence

ENSEMBL: ENSMUSP00000065643 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

probably benign
Transcript: ENSMUST00000065716
AA Change: I1400M

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: I1400M

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 benign
Transcript: ENSMUST00000223282

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362 (GRCm38)	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738 (GRCm38)	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663 (GRCm38)	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351 (GRCm38)	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334 (GRCm38)	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692 (GRCm38)	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427 (GRCm38)	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556 (GRCm38)	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806 (GRCm38)	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091 (GRCm38)	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168 (GRCm38)	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142 (GRCm38)	K3380R	probably benign	Het
Fancd2	A	G	6: 113,545,101 (GRCm38)	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676 (GRCm38)	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876 (GRCm38)	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221 (GRCm38)	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588 (GRCm38)	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638 (GRCm38)	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964 (GRCm38)	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134 (GRCm38)	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941 (GRCm38)	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914 (GRCm38)	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720 (GRCm38)	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592 (GRCm38)	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875 (GRCm38)	F746L	unknown	Het
Ivl	T	C	3: 92,572,242 (GRCm38)	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184 (GRCm38)	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276 (GRCm38)	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728 (GRCm38)	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080 (GRCm38)	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402 (GRCm38)	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687 (GRCm38)		probably benign	Het
Naa15	T	C	3: 51,458,756 (GRCm38)		probably null	Het
Nadk	A	G	4: 155,587,758 (GRCm38)	H302R	probably benign	Het
Neb	T	A	2: 52,256,112 (GRCm38)	N15I		Het
Nup153	A	T	13: 46,683,928 (GRCm38)	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767 (GRCm38)	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463 (GRCm38)	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661 (GRCm38)	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342 (GRCm38)		probably null	Het
Ptk2	G	A	15: 73,221,809 (GRCm38)	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716 (GRCm38)	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029 (GRCm38)	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699 (GRCm38)	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272 (GRCm38)	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347 (GRCm38)	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634 (GRCm38)	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191 (GRCm38)		probably null	Het
Tdp2	T	A	13: 24,838,224 (GRCm38)	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460 (GRCm38)	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512 (GRCm38)		probably benign	Het
Tmprss4	A	T	9: 45,184,273 (GRCm38)	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697 (GRCm38)	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568 (GRCm38)	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811 (GRCm38)	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945 (GRCm38)	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002 (GRCm38)	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395 (GRCm38)	H278L	probably 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
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
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'- GCCATCTCCAAATGGTTACAGTG -3'
(R):5'- AAATGCTCTTTTCTTGAGAGTGCC -3'

Sequencing Primer
(F):5'- CCAAATGGTTACAGTGTGCTC -3'
(R):5'- GTGCCATTTATAATGTATCCTGAAGG -3'

Posted On

2019-05-15