Mutagenetix > Incidental Mutations

Incidental Mutation 'R4885:Eml2'

375636

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

042851-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19176421-19206482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19204010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 793 (S793N)

Ref Sequence

ENSEMBL: ENSMUSP00000112491 (fasta)

Gene Model

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

AlphaFold

Q7TNG5

Predicted Effect

probably benign
Transcript: ENSMUST00000048502
AA Change: S620N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: S620N

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 benign
Transcript: ENSMUST00000117338
AA Change: S793N

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: S793N

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
AA Change: S601N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: S601N

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: 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

0.0801

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,551,675	T317A	probably benign	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adgrb1	A	T	15: 74,572,162	M1038L	probably benign	Het
Anapc10	C	T	8: 79,729,150	T76I	probably benign	Het
Bptf	C	T	11: 107,074,648	S1177N	probably benign	Het
Bsn	A	T	9: 108,107,527	Y337*	probably null	Het
C77080	C	T	4: 129,224,445	R214Q	probably damaging	Het
C87499	T	A	4: 88,627,982	L374F	possibly damaging	Het
Ccl20	T	A	1: 83,117,859	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,956,899	D122N	probably damaging	Het
Chat	C	G	14: 32,454,610	G69A	probably damaging	Het
Cr2	T	A	1: 195,158,731	I418F	possibly damaging	Het
Dmxl1	G	C	18: 49,878,795	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,891,932	R547Q	probably benign	Het
Enox1	T	A	14: 77,720,850	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,194,678	K92E	probably damaging	Het
Fam214a	T	C	9: 75,006,367	L94P	probably damaging	Het
Fam234a	T	C	17: 26,213,585	H530R	probably benign	Het
Fancm	C	T	12: 65,102,643	Q728*	probably null	Het
Fgd3	G	A	13: 49,263,989	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,932,381	M251V	probably benign	Het
Fsip2	A	T	2: 82,988,094	M4724L	probably benign	Het
Gemin6	G	A	17: 80,227,898	E96K	probably damaging	Het
Gfi1	C	A	5: 107,723,286	V80F	probably damaging	Het
Hectd1	A	G	12: 51,800,722	V442A	probably damaging	Het
Hist2h3b	G	T	3: 96,268,961	V90F	possibly damaging	Het
Ift80	A	G	3: 68,950,496	I272T	probably damaging	Het
Impact	C	G	18: 12,986,373	A214G	probably damaging	Het
Insl6	C	T	19: 29,325,156	E54K	probably benign	Het
Irak3	T	A	10: 120,182,681	D54V	probably damaging	Het
Itk	C	T	11: 46,336,344		probably null	Het
Ivl	A	T	3: 92,572,411	C116S	probably benign	Het
Kcnq4	G	A	4: 120,713,063	A361V	probably benign	Het
L1td1	C	T	4: 98,737,311	P581L	probably benign	Het
Lrp1b	T	C	2: 41,468,893	E656G	probably benign	Het
Macrod2	A	G	2: 140,420,065	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,537,268	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,991,488	I151F	possibly damaging	Het
Mical3	G	A	6: 120,935,253	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,145,946	E394G	possibly damaging	Het
Myo16	T	A	8: 10,438,892	S688T	probably damaging	Het
Neb	T	C	2: 52,286,046	Y1467C	probably damaging	Het
Nkx6-3	C	A	8: 23,153,898	P105Q	possibly damaging	Het
Nlrp1b	T	C	11: 71,217,884	T264A	possibly damaging	Het
Nnat	G	A	2: 157,561,758	C122Y	probably damaging	Het
Notch3	G	A	17: 32,141,377	R1527C	probably damaging	Het
Olfr1388	C	T	11: 49,444,622	T257I	probably damaging	Het
Olfr186	A	G	16: 59,027,155	Y251H	probably damaging	Het
Olfr262	T	G	19: 12,240,718		probably null	Het
Pds5b	C	T	5: 150,716,462	T14I	probably benign	Het
Phf19	A	T	2: 34,899,706	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,375,926	D118G	probably benign	Het
Pkhd1	T	A	1: 20,070,488	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,918,952	S21P	possibly damaging	Het
Rack1	C	A	11: 48,805,636	A290E	probably damaging	Het
Rbm15	A	G	3: 107,332,254	V276A	probably benign	Het
Rnf216	A	T	5: 143,090,580	L183*	probably null	Het
Sc5d	T	C	9: 42,255,626	I206V	probably benign	Het
Scpep1	A	G	11: 88,935,911	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,268,693	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,304,384	V494G	probably damaging	Het
Slc38a7	T	C	8: 95,848,602	T17A	probably benign	Het
Smg6	T	C	11: 75,041,918	S73P	probably damaging	Het
Stk32b	T	C	5: 37,466,797	Y202C	probably damaging	Het
Tas2r137	A	G	6: 40,491,400	S55G	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Ttc3	T	C	16: 94,419,465	I568T	probably damaging	Het
Ttc3	G	C	16: 94,426,831		probably null	Het
Ttc41	T	G	10: 86,759,102	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,057,972	V236M	probably damaging	Het
Wscd1	C	T	11: 71,760,146	R100C	probably damaging	Het
Zc3h18	C	T	8: 122,401,706		probably benign	Het

Other mutations in Eml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Eml2	APN	7	19206143	missense	probably damaging	1.00
IGL00786:Eml2	APN	7	19202582	missense	probably damaging	1.00
IGL01084:Eml2	APN	7	19190738	nonsense	probably null
IGL01132:Eml2	APN	7	19200539	missense	probably damaging	1.00
IGL01678:Eml2	APN	7	19186122	missense	probably benign	0.38
IGL01800:Eml2	APN	7	19201197	intron	probably benign
IGL02517:Eml2	APN	7	19206130	missense	probably damaging	1.00
IGL02607:Eml2	APN	7	19206111	missense	probably damaging	1.00
IGL02676:Eml2	APN	7	19184921	nonsense	probably null
IGL03082:Eml2	APN	7	19201877	missense	probably damaging	1.00
puffery	UTSW	7	19201163	missense	probably damaging	1.00
R0628_Eml2_697	UTSW	7	19201554	splice site	probably benign
R0040:Eml2	UTSW	7	19196614	missense	possibly damaging	0.48
R0135:Eml2	UTSW	7	19203952	missense	probably damaging	1.00
R0240:Eml2	UTSW	7	19184872	nonsense	probably null
R0240:Eml2	UTSW	7	19184872	nonsense	probably null
R0362:Eml2	UTSW	7	19190806	splice site	probably null
R0387:Eml2	UTSW	7	19182259	splice site	probably null
R0432:Eml2	UTSW	7	19179531	nonsense	probably null
R0614:Eml2	UTSW	7	19202591	missense	probably damaging	1.00
R0628:Eml2	UTSW	7	19201554	splice site	probably benign
R1078:Eml2	UTSW	7	19179762	missense	probably benign	0.24
R1531:Eml2	UTSW	7	19196254	missense	probably damaging	1.00
R1856:Eml2	UTSW	7	19194061	missense	probably damaging	0.97
R1864:Eml2	UTSW	7	19201878	missense	probably damaging	1.00
R1937:Eml2	UTSW	7	19203964	missense	possibly damaging	0.68
R2032:Eml2	UTSW	7	19202555	missense	probably benign	0.03
R2185:Eml2	UTSW	7	19194028	missense	probably damaging	1.00
R2419:Eml2	UTSW	7	19176695	unclassified	probably benign
R3821:Eml2	UTSW	7	19202986	missense	possibly damaging	0.94
R4199:Eml2	UTSW	7	19179439	missense	probably benign	0.00
R4411:Eml2	UTSW	7	19182401	critical splice donor site	probably null
R4497:Eml2	UTSW	7	19179350	missense	probably damaging	1.00
R4912:Eml2	UTSW	7	19193999	splice site	probably null
R5028:Eml2	UTSW	7	19179447	critical splice donor site	probably null
R5192:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5196:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5373:Eml2	UTSW	7	19179263	missense	possibly damaging	0.92
R5718:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5719:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5720:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5727:Eml2	UTSW	7	19190760	missense	probably damaging	0.99
R5841:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5842:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5843:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R5844:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6014:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6015:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6017:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6073:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6075:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6126:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6128:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6129:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6189:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6190:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6258:Eml2	UTSW	7	19179364	splice site	probably null
R6273:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6289:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6376:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6378:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6381:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6384:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6394:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6435:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6436:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6437:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6476:Eml2	UTSW	7	19196311	missense	probably benign	0.26
R6550:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6551:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6552:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6554:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6572:Eml2	UTSW	7	19196614	missense	possibly damaging	0.48
R6598:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6599:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6704:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6705:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6709:Eml2	UTSW	7	19206211	makesense	probably null
R6730:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6734:Eml2	UTSW	7	19200507	missense	probably benign	0.35
R6742:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6769:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6770:Eml2	UTSW	7	19201163	missense	probably damaging	1.00
R6864:Eml2	UTSW	7	19196281	missense	probably damaging	0.99
R6878:Eml2	UTSW	7	19200612	missense	probably benign	0.08
R7045:Eml2	UTSW	7	19201579	missense	probably damaging	1.00
R7260:Eml2	UTSW	7	19200590	missense	probably benign	0.45
R7478:Eml2	UTSW	7	19206141	nonsense	probably null
R7706:Eml2	UTSW	7	19186110	missense	possibly damaging	0.79
R7811:Eml2	UTSW	7	19186122	missense	probably benign	0.38
R8084:Eml2	UTSW	7	19181224	critical splice donor site	probably null
R8337:Eml2	UTSW	7	19196236	missense	possibly damaging	0.84
R8414:Eml2	UTSW	7	19179295	missense	probably damaging	1.00
R8868:Eml2	UTSW	7	19194063	missense	probably benign	0.03
R8934:Eml2	UTSW	7	19179813	missense	probably damaging	0.99
R9110:Eml2	UTSW	7	19191695	missense	probably benign	0.07
R9131:Eml2	UTSW	7	19184826	missense
R9144:Eml2	UTSW	7	19201639	missense	possibly damaging	0.75
R9261:Eml2	UTSW	7	19179818	missense	probably benign	0.45
R9285:Eml2	UTSW	7	19191643	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTACCCAAGGAGGTCTTCAAC -3'
(R):5'- TGGGGAAACTACAGTTCCGAG -3'

Sequencing Primer
(F):5'- TTGTCGTGTCTACAGGGA -3'
(R):5'- CATCTATAATCCTAGCTCTGGGGAG -3'

Posted On

2016-03-17