Mutagenetix > Incidental Mutations

Incidental Mutation 'R6378:Eml2'

515119

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6378 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

19176421-19206482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19201163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 432 (V432I)

Ref Sequence

ENSEMBL: ENSMUSP00000112447 (fasta)

Gene Model

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

AlphaFold

Q7TNG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048502
AA Change: V451I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: V451I

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: V624I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: V624I

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 damaging
Transcript: ENSMUST00000120595
AA Change: V432I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: V432I

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

0.2533

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 73,123,925	D408E	probably benign	Het
Agpat2	T	C	2: 26,596,135	N178S	probably benign	Het
Arsi	T	C	18: 60,916,501	F152S	probably damaging	Het
Atp13a2	T	A	4: 141,007,056	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,891,152	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 56,962,507	L2P	probably damaging	Het
Cby3	A	G	11: 50,359,533	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 180,093,996	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,126,536		probably null	Het
Cela1	C	T	15: 100,687,190	V20I	probably benign	Het
Cmpk2	G	A	12: 26,469,416	G22E	possibly damaging	Het
Ctcf	T	A	8: 105,663,791	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,411,739	C353F	probably damaging	Het
Efcab3	A	G	11: 105,108,794	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,592,971	Y10*	probably null	Het
Eml4	T	A	17: 83,448,217	W336R	probably damaging	Het
Erich6	T	C	3: 58,622,359		probably null	Het
Eya1	T	C	1: 14,302,803	N31D	possibly damaging	Het
Fam103a1	A	G	7: 81,767,639	Y29C	probably damaging	Het
Fam81a	T	A	9: 70,110,346	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,900,990	T487A	possibly damaging	Het
Ganc	T	C	2: 120,433,826	M420T	probably damaging	Het
Gimap7	A	T	6: 48,724,182	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,433,612	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,240,945	S98G	probably benign	Het
Hoxd10	T	C	2: 74,694,334	I330T	possibly damaging	Het
Ik	T	A	18: 36,757,288	I539N	probably damaging	Het
Il17rb	G	A	14: 30,000,363	T237I	probably damaging	Het
Ing2	T	A	8: 47,669,258	Q85L	probably benign	Het
Lrp4	C	A	2: 91,493,829	N1208K	probably benign	Het
Lvrn	T	A	18: 46,894,957	S888R	probably benign	Het
Map2	T	C	1: 66,415,329	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,539,170		probably null	Het
Mis18bp1	T	C	12: 65,149,247	D581G	probably benign	Het
Muc4	T	C	16: 32,778,946	V3289A	probably benign	Het
Myom2	T	A	8: 15,099,356	I609N	probably benign	Het
Nav1	A	T	1: 135,454,695	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,655,726	I302V	probably damaging	Het
Neb	T	A	2: 52,293,721	K978N	probably damaging	Het
Nol8	A	G	13: 49,667,355	E878G	probably damaging	Het
Nrde2	A	T	12: 100,130,757	I928N	probably damaging	Het
Nxf1	T	A	19: 8,764,546	D145E	probably benign	Het
Obox3	T	A	7: 15,626,102	H214L	probably benign	Het
Obscn	T	C	11: 59,073,746	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,202,935	E83G	probably benign	Het
Olfr1416	A	G	1: 92,480,456	L55P	probably damaging	Het
Olfr281	T	C	15: 98,456,544	V78A	probably benign	Het
Olfr457	T	G	6: 42,471,753	M142L	probably benign	Het
Olfr96	T	A	17: 37,225,797	V224E	probably benign	Het
Pcsk4	G	T	10: 80,328,975	H69N	probably benign	Het
Plcl2	C	T	17: 50,668,160		probably null	Het
Pmfbp1	T	C	8: 109,530,266	I534T	probably damaging	Het
Pqlc3	T	C	12: 16,997,643	Y96C	probably damaging	Het
Prss23	A	T	7: 89,510,033	I276N	probably damaging	Het
Rhd	T	A	4: 134,894,385	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Scg5	A	G	2: 113,827,392	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,486,036	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,768,325	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,917,632	L486*	probably null	Het
Slc25a47	G	A	12: 108,856,143	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,905,054	K277T	probably damaging	Het
Sorcs1	T	A	19: 50,225,177	E704V	possibly damaging	Het
Sptan1	T	C	2: 30,018,515	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,021,383		probably null	Het
Sytl2	A	T	7: 90,358,224	K65*	probably null	Het
Tas2r109	T	G	6: 132,980,881	I29L	probably benign	Het
Tfap2a	A	T	13: 40,723,241	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,177,813	L128F	probably benign	Het
Trappc12	A	T	12: 28,747,083	L150Q	probably damaging	Het
Trim43b	T	A	9: 89,085,399	I395L	probably benign	Het
U2surp	C	T	9: 95,491,421	E232K	probably benign	Het
Vax1	T	C	19: 59,166,224	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,233,602	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,544,783	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,278,405	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,275,096	G394D	probably damaging	Het
Ybx2	A	G	11: 69,940,353	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,243,350	N545K	probably benign	Het
Zp1	T	C	19: 10,914,853	T56A	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
R4885:Eml2	UTSW	7	19204010	missense	probably benign	0.05
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
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'- CCAAGAAATGGGGATGGCTTC -3'
(R):5'- TGTGACAGGCTGAGATGAAC -3'

Sequencing Primer
(F):5'- CTTCTGGTGGTTTCTGTAAGGCATC -3'
(R):5'- GGATTGAAGCAGCAGGTT -3'

Posted On

2018-05-04