Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:Eml5'

530796

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98753064-98867743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98831659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 433 (D433G)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]

AlphaFold

Q8BQM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065716
AA Change: D394G

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

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: D394G

Domain	Start	End	E-Value	Type
Pfam:HELP	1	49	3.3e-21	PFAM
WD40	50	91	6.42e-1	SMART
WD40	94	136	1.08e-4	SMART
WD40	139	178	1.27e-1	SMART
WD40	184	224	2.75e1	SMART
WD40	225	263	2.65e-4	SMART
Blast:WD40	265	312	2e-22	BLAST
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.2e2	SMART
WD40	397	436	8.59e-1	SMART
WD40	444	479	6.6e1	SMART
WD40	505	546	2.74e2	SMART
WD40	552	592	4.8e-2	SMART
low complexity region	609	632	N/A	INTRINSIC
Pfam:HELP	656	715	1.4e-20	PFAM
WD40	716	757	1.18e-1	SMART
WD40	760	802	2.84e-4	SMART
WD40	805	844	1.91e1	SMART
WD40	853	891	2.64e2	SMART
WD40	892	929	3.45e-3	SMART
WD40	985	1026	4.55e-3	SMART
WD40	1029	1068	6.39e0	SMART
WD40	1071	1111	5.15e-2	SMART
WD40	1180	1221	1.9e2	SMART
WD40	1227	1267	1.38e0	SMART
low complexity region	1280	1297	N/A	INTRINSIC
Pfam:HELP	1335	1410	2.4e-16	PFAM
Blast:WD40	1412	1462	8e-28	BLAST
WD40	1465	1507	1.56e-1	SMART
WD40	1510	1549	2.06e0	SMART
WD40	1558	1597	8.22e1	SMART
WD40	1599	1644	4.26e1	SMART
WD40	1690	1730	2.19e-5	SMART
WD40	1774	1813	5.97e-1	SMART
WD40	1884	1925	2.39e0	SMART
WD40	1931	1971	2.88e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223282
AA Change: D433G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,771,971 (GRCm39)	N387Y	probably damaging	Het
Abhd17a	T	C	10: 80,422,421 (GRCm39)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm39)		probably null	Het
Adcy6	T	C	15: 98,494,086 (GRCm39)	N817S	probably benign	Het
Ak8	T	A	2: 28,599,957 (GRCm39)	L63*	probably null	Het
Arhgef28	G	A	13: 98,211,755 (GRCm39)	S76L	probably damaging	Het
Asap1	A	G	15: 63,966,261 (GRCm39)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,768,379 (GRCm39)	M209I	probably benign	Het
Casr	T	C	16: 36,335,950 (GRCm39)	I120V	probably benign	Het
Ccnq	T	C	11: 78,641,950 (GRCm39)	Y180C	probably damaging	Het
Chd7	T	C	4: 8,833,866 (GRCm39)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,668,883 (GRCm39)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,348,391 (GRCm39)	H362L	probably damaging	Het
Dnaaf4	A	G	9: 72,869,257 (GRCm39)	T156A	probably benign	Het
Dym	G	A	18: 75,419,718 (GRCm39)	V630M	probably damaging	Het
Dync2i1	A	T	12: 116,177,076 (GRCm39)	V842E	possibly damaging	Het
Dyrk1b	C	A	7: 27,886,134 (GRCm39)	P619Q	probably damaging	Het
Frem2	A	T	3: 53,561,086 (GRCm39)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,068,082 (GRCm39)	R255G	probably damaging	Het
Galnt17	T	A	5: 131,110,428 (GRCm39)	I304F	probably damaging	Het
Gpc5	A	G	14: 115,607,363 (GRCm39)	S322G	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,610,269 (GRCm39)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,745,987 (GRCm39)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,253,913 (GRCm39)		probably null	Het
Il17f	A	G	1: 20,849,713 (GRCm39)	M17T	probably benign	Het
Itga11	G	A	9: 62,675,866 (GRCm39)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,321,042 (GRCm39)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,342,243 (GRCm39)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,118,055 (GRCm39)	V131A	possibly damaging	Het
Or51r1	G	A	7: 102,227,706 (GRCm39)	M1I	probably null	Het
Or8b40	T	G	9: 38,027,271 (GRCm39)	Y60D	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Or8g55	T	C	9: 39,784,976 (GRCm39)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,110,874 (GRCm39)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,778 (GRCm39)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,459,868 (GRCm39)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,342,555 (GRCm39)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 98,976,574 (GRCm39)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,552,952 (GRCm39)	I117F	probably benign	Het
Psapl1	C	A	5: 36,362,303 (GRCm39)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Rtkn2	T	A	10: 67,877,283 (GRCm39)	F448I	probably benign	Het
Scn10a	T	C	9: 119,500,617 (GRCm39)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,117,759 (GRCm39)	L193P	probably damaging	Het
Sox12	T	C	2: 152,238,678 (GRCm39)	Y314C	probably damaging	Het
Spata31h1	A	G	10: 82,119,331 (GRCm39)	S4560P	probably benign	Het
Sptbn1	T	C	11: 30,067,859 (GRCm39)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,099,775 (GRCm39)	V1570A	probably benign	Het
Synrg	T	C	11: 83,872,251 (GRCm39)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,494,919 (GRCm39)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,173,507 (GRCm39)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,312,428 (GRCm39)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,489,306 (GRCm39)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,428,719 (GRCm39)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,269,095 (GRCm39)		probably null	Het
Vnn3	C	T	10: 23,745,523 (GRCm39)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm39)	Y911C	probably damaging	Het
Zfp772	C	T	7: 7,206,716 (GRCm39)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,887,556 (GRCm39)	H957L	probably benign	Het
Zscan20	G	T	4: 128,479,668 (GRCm39)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,227,373 (GRCm39)	F346I	probably damaging	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98,839,468 (GRCm39)	splice site	probably benign
IGL00473:Eml5	APN	12	98,771,751 (GRCm39)	splice site	probably benign
IGL01120:Eml5	APN	12	98,810,278 (GRCm39)	missense	probably benign
IGL01308:Eml5	APN	12	98,768,572 (GRCm39)	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98,765,191 (GRCm39)	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98,829,539 (GRCm39)	missense	probably benign
IGL02182:Eml5	APN	12	98,768,581 (GRCm39)	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98,760,683 (GRCm39)	splice site	probably benign
IGL02375:Eml5	APN	12	98,810,346 (GRCm39)	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98,756,933 (GRCm39)	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98,842,502 (GRCm39)	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98,784,104 (GRCm39)	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98,825,100 (GRCm39)	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98,827,504 (GRCm39)	nonsense	probably null
IGL03158:Eml5	APN	12	98,793,773 (GRCm39)	splice site	probably benign
IGL03286:Eml5	APN	12	98,826,762 (GRCm39)	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98,840,906 (GRCm39)	splice site	probably benign
BB010:Eml5	UTSW	12	98,810,279 (GRCm39)	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98,810,279 (GRCm39)	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98,791,031 (GRCm39)	splice site	probably null
R0624:Eml5	UTSW	12	98,831,738 (GRCm39)	missense	probably damaging	1.00
R0993:Eml5	UTSW	12	98,827,442 (GRCm39)	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98,797,232 (GRCm39)	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98,758,305 (GRCm39)	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98,797,262 (GRCm39)	splice site	probably benign
R1469:Eml5	UTSW	12	98,825,082 (GRCm39)	missense	probably benign
R1469:Eml5	UTSW	12	98,825,082 (GRCm39)	missense	probably benign
R1503:Eml5	UTSW	12	98,797,433 (GRCm39)	missense	probably damaging	0.99
R1538:Eml5	UTSW	12	98,760,535 (GRCm39)	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98,797,194 (GRCm39)	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98,765,098 (GRCm39)	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98,818,963 (GRCm39)	splice site	probably null
R1791:Eml5	UTSW	12	98,853,315 (GRCm39)	missense	probably benign	0.31
R1856:Eml5	UTSW	12	98,776,843 (GRCm39)	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98,765,098 (GRCm39)	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98,826,220 (GRCm39)	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98,842,570 (GRCm39)	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98,757,645 (GRCm39)	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98,760,525 (GRCm39)	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98,768,705 (GRCm39)	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98,776,864 (GRCm39)	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98,776,864 (GRCm39)	missense	probably damaging	1.00
R2158:Eml5	UTSW	12	98,810,205 (GRCm39)	splice site	probably benign
R2164:Eml5	UTSW	12	98,853,356 (GRCm39)	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98,842,482 (GRCm39)	nonsense	probably null
R2200:Eml5	UTSW	12	98,791,676 (GRCm39)	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98,807,840 (GRCm39)	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98,810,364 (GRCm39)	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98,831,660 (GRCm39)	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98,831,660 (GRCm39)	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98,842,437 (GRCm39)	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98,847,067 (GRCm39)	splice site	probably null
R3118:Eml5	UTSW	12	98,831,753 (GRCm39)	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98,822,248 (GRCm39)	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98,782,283 (GRCm39)	missense	probably damaging	1.00
R3900:Eml5	UTSW	12	98,791,782 (GRCm39)	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98,768,724 (GRCm39)	splice site	probably benign
R3976:Eml5	UTSW	12	98,768,724 (GRCm39)	splice site	probably benign
R4105:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4107:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4108:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4109:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4258:Eml5	UTSW	12	98,831,693 (GRCm39)	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98,782,214 (GRCm39)	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98,803,600 (GRCm39)	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98,765,111 (GRCm39)	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98,768,566 (GRCm39)	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98,756,878 (GRCm39)	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98,797,224 (GRCm39)	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98,758,875 (GRCm39)	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98,840,771 (GRCm39)	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98,758,301 (GRCm39)	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98,756,947 (GRCm39)	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98,825,042 (GRCm39)	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98,760,417 (GRCm39)	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98,791,814 (GRCm39)	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98,756,878 (GRCm39)	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98,842,447 (GRCm39)	missense	probably benign
R6113:Eml5	UTSW	12	98,790,933 (GRCm39)	nonsense	probably null
R6131:Eml5	UTSW	12	98,827,510 (GRCm39)	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98,760,715 (GRCm39)	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98,829,388 (GRCm39)	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98,837,143 (GRCm39)	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98,765,127 (GRCm39)
R6528:Eml5	UTSW	12	98,790,896 (GRCm39)	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98,757,664 (GRCm39)	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98,793,765 (GRCm39)	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98,853,283 (GRCm39)	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98,853,283 (GRCm39)	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98,842,439 (GRCm39)	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98,768,733 (GRCm39)	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98,791,683 (GRCm39)	missense
R7644:Eml5	UTSW	12	98,822,203 (GRCm39)	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98,758,822 (GRCm39)	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98,760,394 (GRCm39)	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98,810,279 (GRCm39)	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98,758,773 (GRCm39)	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98,825,145 (GRCm39)	nonsense	probably null
R8482:Eml5	UTSW	12	98,842,560 (GRCm39)	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98,782,218 (GRCm39)	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98,818,952 (GRCm39)	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98,776,829 (GRCm39)	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98,825,099 (GRCm39)	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98,810,376 (GRCm39)	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98,822,287 (GRCm39)	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98,765,060 (GRCm39)	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98,848,292 (GRCm39)	nonsense	probably null
R9368:Eml5	UTSW	12	98,762,837 (GRCm39)	missense	probably benign	0.31
R9392:Eml5	UTSW	12	98,867,199 (GRCm39)	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98,842,433 (GRCm39)	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98,827,554 (GRCm39)	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98,782,243 (GRCm39)	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98,807,841 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAACCGTCTAGGGTCTATATGC -3'
(R):5'- GGCACCATGGTCTTTTCTATAAG -3'

Sequencing Primer
(F):5'- ACCGTCTAGGGTCTATATGCAATGAG -3'
(R):5'- CCCACCAGAATATTGAGTTGTAATTG -3'

Posted On

2018-08-01