Mutagenetix > Incidental Mutation

Incidental Mutation 'R6528:Eml5'

522109

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

044654-MU

Accession Numbers

Essential gene?

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

Stock #

R6528 (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 98790896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1334 (E1334G)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

probably benign
Transcript: ENSMUST00000065716
AA Change: E1295G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: E1295G

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

unknown
Transcript: ENSMUST00000222128
AA Change: E119G

Predicted Effect

probably benign
Transcript: ENSMUST00000223282
AA Change: E1334G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,596 (GRCm39)	R286H	possibly damaging	Het
Arhgap29	T	A	3: 121,808,351 (GRCm39)	N1176K	probably benign	Het
Cacfd1	T	G	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Ccnj	C	A	19: 40,820,529 (GRCm39)		probably null	Het
Chad	A	G	11: 94,456,450 (GRCm39)	Y176C	probably damaging	Het
Chd5	T	C	4: 152,441,133 (GRCm39)	L191P	probably damaging	Het
Cmtm1	T	C	8: 105,035,927 (GRCm39)	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,377,241 (GRCm39)	A449T	probably damaging	Het
Endou	C	T	15: 97,617,510 (GRCm39)	E147K	probably damaging	Het
Fbxo21	C	A	5: 118,138,421 (GRCm39)	H449N	probably benign	Het
Fkbp15	A	G	4: 62,250,507 (GRCm39)	I363T	probably damaging	Het
Gm12887	C	A	4: 121,472,834 (GRCm39)	G103C	probably damaging	Het
Gm14410	T	A	2: 176,885,301 (GRCm39)	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Irgm2	C	T	11: 58,110,878 (GRCm39)	P202S	probably benign	Het
Khsrp	G	A	17: 57,330,543 (GRCm39)	T551I	probably damaging	Het
Lpin2	T	A	17: 71,551,000 (GRCm39)	I720N	probably damaging	Het
Lypd8	G	A	11: 58,275,439 (GRCm39)	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780 (GRCm39)	L1952F	probably damaging	Het
Med13	G	A	11: 86,189,780 (GRCm39)	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,380,317 (GRCm39)	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,479,819 (GRCm39)	R654C	probably damaging	Het
Or10a3m	T	C	7: 108,312,638 (GRCm39)	L14P	probably damaging	Het
Or12j3	G	T	7: 139,953,354 (GRCm39)	H56Q	possibly damaging	Het
Or13a22	A	G	7: 140,072,964 (GRCm39)	M138V	probably damaging	Het
Or8k35	T	C	2: 86,424,809 (GRCm39)	D121G	probably damaging	Het
Pcdhb6	A	G	18: 37,467,556 (GRCm39)	D159G	probably damaging	Het
Plec	T	C	15: 76,058,630 (GRCm39)	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,896,633 (GRCm39)	D236N	probably damaging	Het
Pnma1	T	A	12: 84,194,197 (GRCm39)	I169F	probably benign	Het
Ppl	T	A	16: 4,905,480 (GRCm39)	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,821,403 (GRCm39)	M252L	probably benign	Het
Pramel29	A	G	4: 143,935,381 (GRCm39)	V120A	probably damaging	Het
Prickle4	T	A	17: 48,000,258 (GRCm39)	R246*	probably null	Het
Rad50	G	A	11: 53,543,109 (GRCm39)	T1235I	probably damaging	Het
Ranbp10	T	C	8: 106,506,588 (GRCm39)	N244S	probably damaging	Het
Robo4	T	C	9: 37,315,664 (GRCm39)	S306P	possibly damaging	Het
Shox2	C	A	3: 66,888,618 (GRCm39)	R91L	probably benign	Het
Tbx5	A	G	5: 120,021,176 (GRCm39)	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,145,258 (GRCm39)	N74S	probably benign	Het
Tgif1	G	A	17: 71,153,555 (GRCm39)		probably benign	Het
Tmem128	T	A	5: 38,423,843 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,956 (GRCm39)	S511P	probably damaging	Het
Trps1	A	G	15: 50,685,823 (GRCm39)	I114T	probably benign	Het
Ttll8	G	T	15: 88,798,441 (GRCm39)	Q765K	probably benign	Het
Usp17ld	A	T	7: 102,899,962 (GRCm39)	D323E	probably damaging	Het
Vmn1r232	G	A	17: 21,134,309 (GRCm39)	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,493,684 (GRCm39)	R87S	probably benign	Het
Vps26b	C	G	9: 26,921,762 (GRCm39)	E254D	probably benign	Het
Vps8	C	A	16: 21,372,875 (GRCm39)	Y113*	probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xcr1	A	T	9: 123,685,048 (GRCm39)	I238N	probably damaging	Het
Zar1l	T	A	5: 150,430,595 (GRCm39)	E272V	probably damaging	Het
Zfp451	A	G	1: 33,816,862 (GRCm39)	Y146H	probably damaging	Het
Zfp54	G	T	17: 21,653,736 (GRCm39)	E77*	probably null	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)
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
R6751:Eml5	UTSW	12	98,831,659 (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'- TCAAGATGAGTCACACCTCTCTC -3'
(R):5'- TTCACACTTAACAGTTGAGGGTAC -3'

Sequencing Primer
(F):5'- GTCTATCACACACACTTATGAAAGTC -3'
(R):5'- CACATTTTTGTAGCTTGCAGTAATG -3'

Posted On

2018-06-06