Mutagenetix > Incidental Mutation

Incidental Mutation 'R6709:Eml2'

529053

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

MMRRC Submission

044827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6709 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

18910346-18940407 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 18940136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 650 (*650W)

Ref Sequence

ENSEMBL: ENSMUSP00000112447 (fasta)

Gene Model

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

AlphaFold

Q7TNG5

Predicted Effect

probably null
Transcript: ENSMUST00000048502
AA Change: *669W

SMART Domains

Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: *669W

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 null
Transcript: ENSMUST00000117338
AA Change: *842W

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: *842W

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
AA Change: *650W

SMART Domains

Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: *650W

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

0.8858

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,552,779 (GRCm39)	D36G	possibly damaging	Het
Actn1	T	A	12: 80,240,418 (GRCm39)	D223V	probably damaging	Het
Adgre1	A	T	17: 57,713,917 (GRCm39)	N201Y	probably benign	Het
Agbl4	T	A	4: 111,423,979 (GRCm39)		probably benign	Het
Atg4d	T	C	9: 21,179,944 (GRCm39)	Y272H	probably damaging	Het
Ccdc39	T	C	3: 33,884,242 (GRCm39)	T367A	possibly damaging	Het
Ceacam2	T	C	7: 25,229,262 (GRCm39)	T293A	possibly damaging	Het
Col19a1	C	T	1: 24,321,577 (GRCm39)	G977E	probably damaging	Het
Csnka2ip	A	T	16: 64,298,932 (GRCm39)	H33Q	possibly damaging	Het
Cyp3a44	A	T	5: 145,714,902 (GRCm39)		probably null	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,594,706 (GRCm39)	D3492G	probably damaging	Het
Eepd1	A	T	9: 25,394,164 (GRCm39)	T143S	probably benign	Het
Etv1	C	T	12: 38,833,796 (GRCm39)	T19I	possibly damaging	Het
Fam133b	T	C	5: 3,619,059 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,302,345 (GRCm39)	H70R	probably benign	Het
Galnt11	C	T	5: 25,453,851 (GRCm39)	R26C	probably damaging	Het
Gm136	T	A	4: 34,755,884 (GRCm39)	Y43F	probably damaging	Het
Gm17409	A	T	2: 58,361,088 (GRCm39)		probably null	Het
Gm5591	A	G	7: 38,221,499 (GRCm39)	I190T	probably benign	Het
H1f9	T	A	11: 94,858,772 (GRCm39)	S22R	possibly damaging	Het
Htra1	C	T	7: 130,537,948 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints8	A	T	4: 11,221,117 (GRCm39)	Y753N	possibly damaging	Het
Itprid2	A	G	2: 79,475,276 (GRCm39)	T412A	probably benign	Het
L3mbtl3	G	A	10: 26,158,695 (GRCm39)	T651I	unknown	Het
Ltb4r2	A	C	14: 55,999,990 (GRCm39)	T204P	possibly damaging	Het
Ltbp3	G	A	19: 5,797,885 (GRCm39)		probably null	Het
Mlxip	A	T	5: 123,585,339 (GRCm39)	I616F	possibly damaging	Het
Mpz	A	T	1: 170,978,301 (GRCm39)		probably benign	Het
Myh11	A	G	16: 14,041,358 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,703,906 (GRCm39)	L1949P	probably damaging	Het
Olfm2	A	G	9: 20,584,009 (GRCm39)	Y116H	probably damaging	Het
Or2t47	T	C	11: 58,442,862 (GRCm39)	M68V	probably benign	Het
Or6s1	A	T	14: 51,308,286 (GRCm39)	L188H	probably damaging	Het
Pde4d	T	G	13: 110,084,813 (GRCm39)	L470R	probably damaging	Het
Plxna2	T	A	1: 194,472,074 (GRCm39)	N1013K	probably benign	Het
Ptpn13	A	C	5: 103,734,622 (GRCm39)	Q2118P	probably benign	Het
Pwwp2a	C	G	11: 43,595,554 (GRCm39)	L240V	probably damaging	Het
Reep2	T	C	18: 34,979,263 (GRCm39)	L196P	probably benign	Het
Shank1	A	T	7: 44,003,600 (GRCm39)	N1765I	probably benign	Het
Slc25a13	A	G	6: 6,073,440 (GRCm39)	S473P	possibly damaging	Het
Slc33a1	C	A	3: 63,852,122 (GRCm39)	M450I	possibly damaging	Het
Slc45a2	A	G	15: 11,001,216 (GRCm39)	Y105C	possibly damaging	Het
Slc4a11	A	T	2: 130,526,616 (GRCm39)	L812Q	probably damaging	Het
Sox6	T	C	7: 115,301,024 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,773,887 (GRCm39)	M528K	probably benign	Het
Syngr4	A	G	7: 45,538,122 (GRCm39)	V82A	probably benign	Het
Tmem185b	G	A	1: 119,454,604 (GRCm39)	V122I	probably benign	Het
Trdn	A	G	10: 33,340,587 (GRCm39)	D607G	probably benign	Het
Trim10	T	A	17: 37,183,262 (GRCm39)	I186N	probably damaging	Het
Trp53i11	A	T	2: 93,030,163 (GRCm39)	M157L	probably benign	Het
Ubr3	C	A	2: 69,843,436 (GRCm39)	H1559N	probably damaging	Het
Usp25	A	C	16: 76,880,820 (GRCm39)	E727A	probably benign	Het
Vmn2r42	T	A	7: 8,195,618 (GRCm39)	R509S	probably benign	Het
Vmn2r69	T	C	7: 85,061,069 (GRCm39)	N172D	probably benign	Het
Zfp14	T	C	7: 29,737,557 (GRCm39)	Y476C	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
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
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'- CAGCAGTAGTCTCCAGGTAGTG -3'
(R):5'- AGACTCCAGACATCTCAGTGC -3'

Sequencing Primer
(F):5'- GTGACTAATGTGGCCTTC -3'
(R):5'- TCCAGACATCTCAGTGCATAAGTCTG -3'

Posted On

2018-07-24