Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Eml2'

249137

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2419 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

18910346-18940407 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 18910620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115466 (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

unknown
Transcript: ENSMUST00000117338
AA Change: M28V

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: M28V

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

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Hey1	A	G	3: 8,731,003 (GRCm39)		probably null	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Nup210	G	A	6: 90,994,538 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Ski	A	G	4: 155,245,350 (GRCm39)	S293P	probably benign	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Trap1	A	G	16: 3,886,194 (GRCm39)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		probably benign	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
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
R5373:Eml2	UTSW	7	18,913,188 (GRCm39)	missense	possibly damaging	0.92
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'- AGTCTCTCGACACCCTTACAGG -3'
(R):5'- GGGTCAGAATCCTGTTGATGAG -3'

Sequencing Primer
(F):5'- TTACAGGGCATCCTAGGGG -3'
(R):5'- TCAGAATCCTGTTGATGAGGAGAAAG -3'

Posted On

2014-11-12