Mutagenetix > Incidental Mutation

Incidental Mutation 'R8934:Eml2'

680516

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

068777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8934 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18910346-18940407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18913738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 185 (R185H)

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

probably damaging
Transcript: ENSMUST00000117338
AA Change: R185H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: R185H

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

probably benign
Transcript: ENSMUST00000144054

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abce1	A	G	8: 80,429,661 (GRCm39)	Y87H	probably damaging	Het
Adad2	G	A	8: 120,341,535 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,300,015 (GRCm39)	T901A	probably damaging	Het
Adamts18	T	A	8: 114,463,510 (GRCm39)	I779F	possibly damaging	Het
Bod1l	T	C	5: 41,976,944 (GRCm39)	T1457A	probably benign	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
C4b	G	A	17: 34,951,958 (GRCm39)	R1296C	possibly damaging	Het
C5ar1	A	T	7: 15,982,402 (GRCm39)	L206Q	probably damaging	Het
Cfap126	A	G	1: 170,953,690 (GRCm39)	T87A	probably benign	Het
Cnot1	A	T	8: 96,491,695 (GRCm39)	N376K	probably benign	Het
Cyp3a44	A	T	5: 145,731,786 (GRCm39)	I120K	possibly damaging	Het
Ddx17	T	C	15: 79,420,217 (GRCm39)	E384G	possibly damaging	Het
Dipk1b	G	A	2: 26,524,866 (GRCm39)	V89M	possibly damaging	Het
Dnah14	T	C	1: 181,450,288 (GRCm39)	S634P	possibly damaging	Het
Dusp16	A	T	6: 134,718,639 (GRCm39)		probably benign	Het
Epdr1	T	C	13: 19,777,350 (GRCm39)	E216G	possibly damaging	Het
Erv3	T	C	2: 131,698,101 (GRCm39)	H86R	probably benign	Het
Gm5114	A	G	7: 39,060,553 (GRCm39)	W99R	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hjv	T	G	3: 96,433,909 (GRCm39)	C27G	probably damaging	Het
Ifrd2	T	C	9: 107,469,469 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,150,407 (GRCm39)	*758W	probably null	Het
Il1rap	T	C	16: 26,495,734 (GRCm39)	C114R	probably damaging	Het
Irf6	T	C	1: 192,845,033 (GRCm39)	I168T	probably benign	Het
Kmt2d	T	C	15: 98,759,767 (GRCm39)	I1164V	unknown	Het
Lamb3	T	C	1: 193,021,168 (GRCm39)	L915P	probably damaging	Het
Lca5	T	C	9: 83,273,909 (GRCm39)		probably benign	Het
Lhx3	C	A	2: 26,092,258 (GRCm39)	R211L	probably damaging	Het
Mettl8	T	C	2: 70,882,062 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,334,386 (GRCm39)	S1297P	probably benign	Het
Myh14	T	A	7: 44,306,852 (GRCm39)	T232S	probably benign	Het
Nemp2	T	A	1: 52,688,868 (GRCm39)	F377L	probably damaging	Het
Obscn	A	G	11: 58,889,085 (GRCm39)		probably null	Het
Or4b1b	T	A	2: 90,112,356 (GRCm39)	T188S	probably benign	Het
Or51ah3	T	C	7: 103,210,290 (GRCm39)	V202A	probably benign	Het
Pgbd5	A	C	8: 125,110,998 (GRCm39)	V231G	possibly damaging	Het
Pitrm1	T	C	13: 6,606,666 (GRCm39)	L240P	probably benign	Het
Pkhd1	A	G	1: 20,462,234 (GRCm39)		probably null	Het
Ppp2r5a	T	A	1: 191,100,835 (GRCm39)		probably benign	Het
Pramel31	C	T	4: 144,090,345 (GRCm39)	L462F	possibly damaging	Het
Prss30	C	T	17: 24,192,628 (GRCm39)	C147Y	probably damaging	Het
Ptpru	C	T	4: 131,546,297 (GRCm39)	V318M	probably damaging	Het
Rpap1	C	T	2: 119,599,730 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,303,219 (GRCm39)	Q184R	probably benign	Het
Rufy1	T	A	11: 50,298,705 (GRCm39)	Q362L	probably benign	Het
Rundc1	A	G	11: 101,322,327 (GRCm39)	K274E	probably damaging	Het
Shroom3	T	A	5: 93,089,584 (GRCm39)	I778K	probably damaging	Het
Slamf6	C	T	1: 171,745,338 (GRCm39)	L22F	possibly damaging	Het
St7l	A	G	3: 104,796,634 (GRCm39)	E249G	probably damaging	Het
Tmem237	T	C	1: 59,153,338 (GRCm39)	N61S	probably benign	Het
Tyk2	T	C	9: 21,038,416 (GRCm39)		probably benign	Het
Ubtf	G	T	11: 102,204,855 (GRCm39)	P115T	probably damaging	Het
Vmn2r70	T	A	7: 85,211,188 (GRCm39)	I508F	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp663	A	T	2: 165,194,714 (GRCm39)	C502S	probably 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
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
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'- TGTGTCAGCTCCTGAAAGGC -3'
(R):5'- ACAGAGACTCTTGACTGTTGTG -3'

Sequencing Primer
(F):5'- AGCTCCTGAAAGGCCTTCC -3'
(R):5'- GTTGTGTTCTGACTCCACCAG -3'

Posted On

2021-08-31