Mutagenetix > Incidental Mutation

Incidental Mutation 'R7045:Eml2'

547249

Institutional Source

Beutler Lab

Gene Symbol

Eml2

Ensembl Gene

ENSMUSG00000040811

Gene Name

echinoderm microtubule associated protein like 2

Synonyms

1600029N02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18910346-18940407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18935504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 638 (D638G)

Ref Sequence

ENSEMBL: ENSMUSP00000112491 (fasta)

Gene Model

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

AlphaFold

Q7TNG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048502
AA Change: D465G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: D465G

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: D638G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: D638G

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: D446G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: D446G

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

silent
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	A	T	12: 112,628,735 (GRCm39)	Y18*	probably null	Het
Ank2	C	A	3: 126,806,393 (GRCm39)	A583S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,546 (GRCm39)	V518A	possibly damaging	Het
Atp8b4	T	C	2: 126,214,115 (GRCm39)	N706S	probably benign	Het
Bace2	A	G	16: 97,200,865 (GRCm39)	N111S	probably damaging	Het
Cnp	A	T	11: 100,471,184 (GRCm39)	R275S	probably benign	Het
Cs	T	A	10: 128,188,586 (GRCm39)	M104K	probably benign	Het
Ctcfl	G	A	2: 172,954,167 (GRCm39)	T310I	probably damaging	Het
Cyp2d40	T	C	15: 82,645,763 (GRCm39)	I81V	probably benign	Het
Ddx19a	A	G	8: 111,719,706 (GRCm39)	V30A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dock6	G	A	9: 21,733,107 (GRCm39)	A1062V	probably damaging	Het
Dpysl2	T	C	14: 67,067,395 (GRCm39)	D172G	probably benign	Het
Epb41l4b	C	A	4: 57,103,522 (GRCm39)	A105S	possibly damaging	Het
Fat4	A	G	3: 38,942,750 (GRCm39)	I548V	probably benign	Het
Gabrb2	G	A	11: 42,484,758 (GRCm39)	A272T	probably damaging	Het
Gask1a	T	C	9: 121,794,707 (GRCm39)	L287P	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,122,349 (GRCm39)	G477C	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kiss1r	A	G	10: 79,755,259 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Loxl4	G	T	19: 42,595,074 (GRCm39)	N200K	probably damaging	Het
Lrba	T	C	3: 86,192,398 (GRCm39)	V104A	probably benign	Het
Lyst	T	A	13: 13,812,293 (GRCm39)	C902S	probably damaging	Het
Lyst	T	A	13: 13,809,485 (GRCm39)	V385D	probably benign	Het
Mrpl28	T	C	17: 26,345,261 (GRCm39)	F227S	probably benign	Het
Mtmr3	A	T	11: 4,448,896 (GRCm39)	V289E	possibly damaging	Het
Ndst3	A	G	3: 123,465,732 (GRCm39)	V80A	probably damaging	Het
Nid2	C	T	14: 19,829,749 (GRCm39)	A680V	possibly damaging	Het
Nudcd1	T	C	15: 44,269,226 (GRCm39)	N145D	probably benign	Het
Nup210	A	T	6: 91,031,433 (GRCm39)	I812N	probably damaging	Het
Or2ak6	A	T	11: 58,592,495 (GRCm39)		probably benign	Het
Or2g7	C	T	17: 38,378,862 (GRCm39)	H267Y	probably benign	Het
Or2y17	A	T	11: 49,231,757 (GRCm39)	T133S	probably damaging	Het
Or52n4b	A	G	7: 108,144,452 (GRCm39)	K238R	probably damaging	Het
Or5b114-ps1	C	A	19: 13,352,336 (GRCm39)	N3K	probably damaging	Het
Or8c11	T	A	9: 38,289,729 (GRCm39)	M184K	probably damaging	Het
Or8k16	A	G	2: 85,520,255 (GRCm39)	S161G	possibly damaging	Het
Pcdhb6	A	C	18: 37,469,329 (GRCm39)	Q750P	possibly damaging	Het
Plppr4	T	C	3: 117,153,683 (GRCm39)	Y72C	probably damaging	Het
Rasgrf2	G	T	13: 92,159,100 (GRCm39)		probably benign	Het
Sbk2	A	G	7: 4,961,905 (GRCm39)	I127T	probably damaging	Het
Smchd1	A	C	17: 71,722,039 (GRCm39)	S817A	probably benign	Het
Speer4b	A	T	5: 27,705,123 (GRCm39)	N83K	probably damaging	Het
Strc	A	T	2: 121,201,207 (GRCm39)	L1296Q	probably damaging	Het
Thap11	C	A	8: 106,582,215 (GRCm39)	R75S	possibly damaging	Het
Unc13a	A	C	8: 72,111,407 (GRCm39)	L268R	possibly damaging	Het
Zfp39	A	T	11: 58,781,269 (GRCm39)	C498S	unknown	Het
Zfp507	T	C	7: 35,494,978 (GRCm39)	T22A	possibly damaging	Het
Zfp85	T	C	13: 67,897,712 (GRCm39)	Y120C	probably benign	Het
Zfp882	G	A	8: 72,667,093 (GRCm39)		probably null	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
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'- CATCTCAGCCTGTCACACAG -3'
(R):5'- TATGAGGAAGCACCCAGACTCC -3'

Sequencing Primer
(F):5'- TGTCACACAGCCTGGCCTC -3'
(R):5'- CTGGTGAAAAGCTGACCA -3'

Posted On

2019-05-13