Mutagenetix > Incidental Mutations

Incidental Mutation 'R0387:Eml2'

31343

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

038593-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0387 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

19176421-19206482 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 19182259 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146046 (fasta)

Gene Model

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

Predicted Effect

probably null
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

probably null
Transcript: ENSMUST00000117338

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811

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 null
Transcript: ENSMUST00000117338

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811

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 null
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 null
Transcript: ENSMUST00000141718

Predicted Effect

probably null
Transcript: ENSMUST00000141718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141792

Predicted Effect

probably null
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

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,332,852		probably null	Het
Abcc9	T	A	6: 142,639,504	K825*	probably null	Het
Afp	T	C	5: 90,497,291	C189R	probably damaging	Het
Akap9	T	C	5: 3,951,678		probably benign	Het
Alpk3	A	T	7: 81,104,227	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,786,556	Q354K	probably benign	Het
Atxn2	T	C	5: 121,802,143	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,422,507		probably benign	Het
Cacna2d2	C	A	9: 107,513,881	T403K	probably damaging	Het
Cap2	C	T	13: 46,560,516	H79Y	probably damaging	Het
Car10	G	T	11: 93,583,021		probably null	Het
Ccno	T	C	13: 112,989,867	L290P	probably damaging	Het
Cfap69	T	C	5: 5,589,303	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,586,130	M568V	probably benign	Het
Cyp1b1	C	A	17: 79,713,774	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,295,552		probably null	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnm1	C	T	2: 32,320,581	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,918,213	L698P	probably damaging	Het
Dock10	C	A	1: 80,540,276	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,546,855		noncoding transcript	Het
Dpyd	G	A	3: 119,427,226	D949N	probably benign	Het
Dync2li1	A	G	17: 84,655,340	K345E	possibly damaging	Het
Exoc7	A	G	11: 116,294,401		probably benign	Het
Faah	A	T	4: 116,005,692	C113*	probably null	Het
Fcf1	T	A	12: 84,973,002	D16E	probably benign	Het
Fcgbp	T	C	7: 28,091,454		probably benign	Het
Ghr	A	G	15: 3,319,891	S602P	probably benign	Het
Gm10334	A	G	6: 41,443,369	I141T	possibly damaging	Het
Gm5114	T	C	7: 39,408,809	D462G	probably benign	Het
Gm8186	T	A	17: 26,099,026	S66C	probably damaging	Het
Gorab	C	T	1: 163,396,834	V133M	probably benign	Het
Gria1	G	A	11: 57,309,884		probably null	Het
Grik1	T	A	16: 88,034,350		probably benign	Het
Gtf3c1	A	G	7: 125,681,104	L378P	probably damaging	Het
Htr5b	A	T	1: 121,527,546	V215D	probably damaging	Het
Htra1	A	G	7: 130,979,478	T319A	probably damaging	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,609,734	H189Q	possibly damaging	Het
Lhfp	A	G	3: 53,043,328	T8A	probably benign	Het
Ly75	T	A	2: 60,306,404	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,281,096	I301T	possibly damaging	Het
Mlkl	C	T	8: 111,333,350	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,499,160	M1R	probably null	Het
Mroh2a	G	C	1: 88,246,042	A871P	probably damaging	Het
Mtbp	A	G	15: 55,611,029	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,285,021		probably benign	Het
Nos3	A	G	5: 24,367,585	K174R	probably damaging	Het
Oas2	A	T	5: 120,745,672		probably benign	Het
Olfr889	T	A	9: 38,115,770		probably null	Het
Pi4kb	G	C	3: 94,984,740	E256Q	probably benign	Het
Pik3c2a	T	A	7: 116,373,744	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,432,601	K1031N	probably benign	Het
Plk4	A	T	3: 40,812,884		probably benign	Het
Polq	T	C	16: 37,029,430	C349R	probably damaging	Het
Polq	G	T	16: 37,089,317	E2354D	probably damaging	Het
Prss22	A	G	17: 23,993,929	L278P	probably damaging	Het
Ptprk	G	A	10: 28,354,629	V239I	possibly damaging	Het
Raph1	T	G	1: 60,510,496		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripor3	C	T	2: 167,983,772	W755*	probably null	Het
Rnd3	G	T	2: 51,148,231	D77E	probably damaging	Het
Ryr1	T	C	7: 29,083,367		probably benign	Het
Serpinb1a	C	T	13: 32,848,738	V63I	probably benign	Het
Six1	T	G	12: 73,046,041	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,703,501	T271I	probably damaging	Het
Stab1	T	C	14: 31,148,101	D1387G	probably benign	Het
Stra6	T	A	9: 58,153,183	M625K	probably benign	Het
Syne1	T	C	10: 5,351,029	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,796,700	K101N	probably benign	Het
Tigd2	T	C	6: 59,211,158	Y337H	probably benign	Het
Tnxb	A	G	17: 34,683,574	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,686,935	I288T	probably damaging	Het
Ulk1	A	G	5: 110,788,797	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,957,376	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,800,947	M12L	probably benign	Het
Zfp106	T	C	2: 120,528,472		probably null	Het
Zfp74	T	A	7: 29,934,754	T510S	probably benign	Het
Zfp808	A	G	13: 62,169,478	T14A	probably damaging	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCACCTGTTCAGAAAGGAAGATGG -3'
(R):5'- AAGGATACACCCAGTCTAGCTTTAGCC -3'

Sequencing Primer
(F):5'- aaagaagagagaaggaaagggg -3'
(R):5'- GTCCCCGCAGAAACATCTTTA -3'

Posted On

2013-04-24