Mutagenetix > Incidental Mutation

Incidental Mutation 'R5373:Eml2'

428868

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

042949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5373 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

18910346-18940407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18913188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 62 (D62V)

Ref Sequence

ENSEMBL: ENSMUSP00000112491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048502] [ENSMUST00000117338] [ENSMUST00000120595] [ENSMUST00000141718] [ENSMUST00000144054] [ENSMUST00000148246]

AlphaFold

Q7TNG5

Predicted Effect

probably benign
Transcript: ENSMUST00000048502

SMART Domains

Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811

Domain	Start	End	E-Value	Type
Pfam:HELP	17	65	4.6e-14	PFAM
WD40	113	162	8.36e-2	SMART
WD40	165	210	9.21e0	SMART
WD40	213	252	7.99e-1	SMART
WD40	258	298	3.7e0	SMART
WD40	301	341	3.58e-1	SMART
WD40	385	424	5.52e-2	SMART
WD40	427	465	1.1e1	SMART
WD40	468	507	4.95e-4	SMART
WD40	514	553	4.62e-4	SMART
WD40	579	620	4.75e1	SMART
WD40	626	666	2.67e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083609

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117338
AA Change: D62V

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: D62V

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
coiled coil region	59	106	N/A	INTRINSIC
low complexity region	183	191	N/A	INTRINSIC
Pfam:HELP	211	285	3.5e-29	PFAM
WD40	286	335	5.5e-4	SMART
WD40	338	383	5.8e-2	SMART
WD40	386	425	5.2e-3	SMART
WD40	431	471	2.4e-2	SMART
WD40	474	514	2.3e-3	SMART
WD40	558	597	3.6e-4	SMART
WD40	600	638	7.1e-2	SMART
WD40	641	680	3.1e-6	SMART
WD40	687	726	3.1e-6	SMART
WD40	752	793	3e-1	SMART
WD40	799	839	1.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120595

SMART Domains

Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811

Domain	Start	End	E-Value	Type
WD40	94	154	2.48e0	SMART
WD40	157	196	7.99e-1	SMART
WD40	202	242	3.7e0	SMART
WD40	245	285	3.58e-1	SMART
WD40	329	368	5.52e-2	SMART
WD40	371	409	1.1e1	SMART
WD40	412	451	4.95e-4	SMART
WD40	458	497	4.62e-4	SMART
WD40	523	564	4.75e1	SMART
WD40	570	610	2.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141792

Predicted Effect

probably benign
Transcript: ENSMUST00000144054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146095

Predicted Effect

probably benign
Transcript: ENSMUST00000148246

SMART Domains

Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811

Domain	Start	End	E-Value	Type
WD40	94	143	8.36e-2	SMART
WD40	146	191	9.21e0	SMART
WD40	194	233	7.99e-1	SMART
WD40	239	279	3.7e0	SMART
WD40	282	322	3.58e-1	SMART
WD40	366	405	5.52e-2	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (74/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Abcb5	G	T	12: 118,850,912 (GRCm39)	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Arpp21	T	G	9: 111,896,336 (GRCm39)	M687L	probably benign	Het
Camkv	T	C	9: 107,824,088 (GRCm39)	S221P	probably benign	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Chsy1	C	T	7: 65,759,824 (GRCm39)	Q56*	probably null	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,472,824 (GRCm39)	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Evc2	C	T	5: 37,535,554 (GRCm39)	R410W	probably damaging	Het
Fam169b	T	C	7: 67,950,586 (GRCm39)	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803 (GRCm38)	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,226,573 (GRCm39)	S18P	probably damaging	Het
Kcnq5	T	A	1: 22,031,795 (GRCm39)	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Lig1	AG	A	7: 13,039,849 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Mtfr2	G	T	10: 20,228,598 (GRCm39)	C48F	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,583,160 (GRCm39)	M669T	probably benign	Het
Ptprf	G	T	4: 118,083,238 (GRCm39)	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665 (GRCm38)	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447 (GRCm39)	I294N	probably damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Spata6	T	A	4: 111,680,031 (GRCm39)		probably null	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Susd5	G	A	9: 113,911,653 (GRCm39)	G188R	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Vmn1r85	A	T	7: 12,818,255 (GRCm39)	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,267,750 (GRCm39)	T68I	possibly damaging	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp85	T	C	13: 67,897,577 (GRCm39)	Y165C	probably damaging	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Eml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Eml2	APN	7	18,940,068 (GRCm39)	missense	probably damaging	1.00
IGL00786:Eml2	APN	7	18,936,507 (GRCm39)	missense	probably damaging	1.00
IGL01084:Eml2	APN	7	18,924,663 (GRCm39)	nonsense	probably null
IGL01132:Eml2	APN	7	18,934,464 (GRCm39)	missense	probably damaging	1.00
IGL01678:Eml2	APN	7	18,920,047 (GRCm39)	missense	probably benign	0.38
IGL01800:Eml2	APN	7	18,935,122 (GRCm39)	intron	probably benign
IGL02517:Eml2	APN	7	18,940,055 (GRCm39)	missense	probably damaging	1.00
IGL02607:Eml2	APN	7	18,940,036 (GRCm39)	missense	probably damaging	1.00
IGL02676:Eml2	APN	7	18,918,846 (GRCm39)	nonsense	probably null
IGL03082:Eml2	APN	7	18,935,802 (GRCm39)	missense	probably damaging	1.00
puffery	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R0628_Eml2_697	UTSW	7	18,935,479 (GRCm39)	splice site	probably benign
R0040:Eml2	UTSW	7	18,930,539 (GRCm39)	missense	possibly damaging	0.48
R0135:Eml2	UTSW	7	18,937,877 (GRCm39)	missense	probably damaging	1.00
R0240:Eml2	UTSW	7	18,918,797 (GRCm39)	nonsense	probably null
R0240:Eml2	UTSW	7	18,918,797 (GRCm39)	nonsense	probably null
R0362:Eml2	UTSW	7	18,924,731 (GRCm39)	splice site	probably null
R0387:Eml2	UTSW	7	18,916,184 (GRCm39)	splice site	probably null
R0432:Eml2	UTSW	7	18,913,456 (GRCm39)	nonsense	probably null
R0614:Eml2	UTSW	7	18,936,516 (GRCm39)	missense	probably damaging	1.00
R0628:Eml2	UTSW	7	18,935,479 (GRCm39)	splice site	probably benign
R1078:Eml2	UTSW	7	18,913,687 (GRCm39)	missense	probably benign	0.24
R1531:Eml2	UTSW	7	18,930,179 (GRCm39)	missense	probably damaging	1.00
R1856:Eml2	UTSW	7	18,927,986 (GRCm39)	missense	probably damaging	0.97
R1864:Eml2	UTSW	7	18,935,803 (GRCm39)	missense	probably damaging	1.00
R1937:Eml2	UTSW	7	18,937,889 (GRCm39)	missense	possibly damaging	0.68
R2032:Eml2	UTSW	7	18,936,480 (GRCm39)	missense	probably benign	0.03
R2185:Eml2	UTSW	7	18,927,953 (GRCm39)	missense	probably damaging	1.00
R2419:Eml2	UTSW	7	18,910,620 (GRCm39)	unclassified	probably benign
R3821:Eml2	UTSW	7	18,936,911 (GRCm39)	missense	possibly damaging	0.94
R4199:Eml2	UTSW	7	18,913,364 (GRCm39)	missense	probably benign	0.00
R4411:Eml2	UTSW	7	18,916,326 (GRCm39)	critical splice donor site	probably null
R4497:Eml2	UTSW	7	18,913,275 (GRCm39)	missense	probably damaging	1.00
R4885:Eml2	UTSW	7	18,937,935 (GRCm39)	missense	probably benign	0.05
R4912:Eml2	UTSW	7	18,927,924 (GRCm39)	splice site	probably null
R5028:Eml2	UTSW	7	18,913,372 (GRCm39)	critical splice donor site	probably null
R5192:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5196:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5718:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5719:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5720:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5727:Eml2	UTSW	7	18,924,685 (GRCm39)	missense	probably damaging	0.99
R5841:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5842:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5843:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R5844:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6014:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6015:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6017:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6073:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6075:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6126:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6128:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6129:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6189:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6190:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6258:Eml2	UTSW	7	18,913,289 (GRCm39)	splice site	probably null
R6273:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6289:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6376:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6378:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6381:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6384:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6394:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6435:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6436:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6437:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6476:Eml2	UTSW	7	18,930,236 (GRCm39)	missense	probably benign	0.26
R6550:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6551:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6552:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6554:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6572:Eml2	UTSW	7	18,930,539 (GRCm39)	missense	possibly damaging	0.48
R6598:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6599:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6704:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6705:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6709:Eml2	UTSW	7	18,940,136 (GRCm39)	makesense	probably null
R6730:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6734:Eml2	UTSW	7	18,934,432 (GRCm39)	missense	probably benign	0.35
R6742:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6769:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6770:Eml2	UTSW	7	18,935,088 (GRCm39)	missense	probably damaging	1.00
R6864:Eml2	UTSW	7	18,930,206 (GRCm39)	missense	probably damaging	0.99
R6878:Eml2	UTSW	7	18,934,537 (GRCm39)	missense	probably benign	0.08
R7045:Eml2	UTSW	7	18,935,504 (GRCm39)	missense	probably damaging	1.00
R7260:Eml2	UTSW	7	18,934,515 (GRCm39)	missense	probably benign	0.45
R7478:Eml2	UTSW	7	18,940,066 (GRCm39)	nonsense	probably null
R7706:Eml2	UTSW	7	18,920,035 (GRCm39)	missense	possibly damaging	0.79
R7811:Eml2	UTSW	7	18,920,047 (GRCm39)	missense	probably benign	0.38
R8084:Eml2	UTSW	7	18,915,149 (GRCm39)	critical splice donor site	probably null
R8337:Eml2	UTSW	7	18,930,161 (GRCm39)	missense	possibly damaging	0.84
R8414:Eml2	UTSW	7	18,913,220 (GRCm39)	missense	probably damaging	1.00
R8868:Eml2	UTSW	7	18,927,988 (GRCm39)	missense	probably benign	0.03
R8934:Eml2	UTSW	7	18,913,738 (GRCm39)	missense	probably damaging	0.99
R9110:Eml2	UTSW	7	18,925,620 (GRCm39)	missense	probably benign	0.07
R9131:Eml2	UTSW	7	18,918,751 (GRCm39)	missense
R9144:Eml2	UTSW	7	18,935,564 (GRCm39)	missense	possibly damaging	0.75
R9261:Eml2	UTSW	7	18,913,743 (GRCm39)	missense	probably benign	0.45
R9285:Eml2	UTSW	7	18,925,568 (GRCm39)	missense	probably damaging	0.98
R9767:Eml2	UTSW	7	18,920,083 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGAGACTCTCCTGGTCTTTG -3'
(R):5'- GGTCATGCCTTTGTGCATCG -3'

Sequencing Primer
(F):5'- ACTCTCCTGGTCTTTGGAGCG -3'
(R):5'- CCAAAATACCCGAGGCGGTG -3'

Posted On

2016-09-06