Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Eml2'

644669

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18910346-18940407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18930161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 294 (D294G)

Ref Sequence

ENSEMBL: ENSMUSP00000112447 (fasta)

Gene Model

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

AlphaFold

Q7TNG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048502
AA Change: D313G

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: D313G

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

possibly damaging
Transcript: ENSMUST00000117338
AA Change: D486G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: D486G

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

possibly damaging
Transcript: ENSMUST00000120595
AA Change: D294G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: D294G

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

possibly damaging
Transcript: ENSMUST00000148246
AA Change: D294G

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
AA Change: D294G

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: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		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
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'- AGTTCAGACGACTCAGTGGAG -3'
(R):5'- CAGAGTTAGGAGCCCCGTAG -3'

Sequencing Primer
(F):5'- AGGGCTGAGTCCATGGATACTG -3'
(R):5'- CGTAGGGTAGCGGCCTG -3'

Posted On

2020-09-02