Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Eml5'

429564

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

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

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98753064-98867743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98825042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 725 (G725D)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065716
AA Change: G686D

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: G686D

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: G725D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3829

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,545,796 (GRCm39)	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,407,932 (GRCm39)		probably benign	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,002,522 (GRCm39)	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,563 (GRCm39)	V175A	probably benign	Het
B3galnt2	T	C	13: 14,169,010 (GRCm39)		probably null	Het
BC024139	A	C	15: 76,004,422 (GRCm39)	S711R	probably benign	Het
Bod1l	A	G	5: 41,984,526 (GRCm39)	I508T	probably damaging	Het
Btnl6	T	A	17: 34,726,959 (GRCm39)	R524*	probably null	Het
C3	C	A	17: 57,528,159 (GRCm39)	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,194,485 (GRCm39)	A367V	probably benign	Het
Ccr1	A	T	9: 123,764,326 (GRCm39)	M68K	probably damaging	Het
Cd27	T	A	6: 125,211,327 (GRCm39)		probably benign	Het
Celf2	C	A	2: 7,085,892 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,897,119 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,622,687 (GRCm39)	K26E	probably damaging	Het
Clcn4	T	A	7: 7,299,032 (GRCm39)	I48F	probably benign	Het
Cnot7	A	T	8: 40,947,061 (GRCm39)	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750 (GRCm39)	I654V	unknown	Het
Dip2a	A	G	10: 76,128,194 (GRCm39)	I22T	probably damaging	Het
Eif4g3	C	T	4: 137,910,645 (GRCm39)	T1375M	possibly damaging	Het
F12	T	C	13: 55,566,304 (GRCm39)	E496G	probably benign	Het
Fam227a	A	T	15: 79,499,637 (GRCm39)	S573T	probably benign	Het
Fnip1	T	C	11: 54,393,415 (GRCm39)	V593A	probably benign	Het
Focad	T	A	4: 88,039,610 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,919,976 (GRCm39)	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,656,573 (GRCm39)		probably null	Het
Gm5592	A	T	7: 40,867,635 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,037,330 (GRCm39)		noncoding transcript	Het
Gm7935	A	T	15: 73,952,963 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Gstm5	G	A	3: 107,805,782 (GRCm39)	A198T	probably damaging	Het
Herc2	T	A	7: 55,832,448 (GRCm39)	V3048D	probably damaging	Het
Htra4	T	G	8: 25,523,585 (GRCm39)	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,464,873 (GRCm39)	M1T	probably null	Het
Ints6	T	C	14: 62,981,384 (GRCm39)	T135A	probably damaging	Het
Itpr1	T	A	6: 108,496,385 (GRCm39)	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,600,993 (GRCm39)	M268L	probably benign	Het
Lrp1b	G	T	2: 40,894,625 (GRCm39)	S2201*	probably null	Het
Lrp2	T	C	2: 69,289,904 (GRCm39)	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,091,722 (GRCm39)	I539N	possibly damaging	Het
Map3k6	T	C	4: 132,974,992 (GRCm39)	I675T	probably damaging	Het
Map3k9	T	A	12: 81,768,826 (GRCm39)	E1074V	probably damaging	Het
Med13l	T	A	5: 118,862,075 (GRCm39)	S339R	probably benign	Het
Mrps18a	T	C	17: 46,436,552 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,882,654 (GRCm39)	E466G	probably damaging	Het
Nat8f2	G	T	6: 85,844,854 (GRCm39)	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,072,625 (GRCm39)	I406T	probably benign	Het
Npc1l1	A	G	11: 6,167,705 (GRCm39)		probably null	Het
Or10z1	A	G	1: 174,078,007 (GRCm39)	V162A	probably damaging	Het
Or5ac20	A	T	16: 59,104,743 (GRCm39)	M39K	probably damaging	Het
Ostf1	C	T	19: 18,558,689 (GRCm39)	G198E	probably benign	Het
Pcsk5	A	G	19: 17,558,619 (GRCm39)	V596A	probably damaging	Het
Pde4c	T	C	8: 71,202,754 (GRCm39)	*647Q	probably null	Het
Pkm	A	T	9: 59,577,917 (GRCm39)	I245F	probably damaging	Het
Prss3b	T	A	6: 41,009,940 (GRCm39)	R131S	probably benign	Het
Ptprj	T	C	2: 90,299,985 (GRCm39)	H179R	probably benign	Het
Rapgef2	A	T	3: 78,976,739 (GRCm39)	S1356T	probably benign	Het
Rbm45	T	A	2: 76,200,594 (GRCm39)	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scel	A	T	14: 103,823,929 (GRCm39)	I386F	probably benign	Het
Serpinb5	A	T	1: 106,809,487 (GRCm39)	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,449,406 (GRCm39)	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,909,625 (GRCm39)	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,788,067 (GRCm39)	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,628,262 (GRCm39)	D25G	probably benign	Het
Snrnp40	T	C	4: 130,256,439 (GRCm39)	S55P	probably damaging	Het
Snx9	T	A	17: 5,970,855 (GRCm39)	C399S	probably damaging	Het
Ttbk2	T	C	2: 120,655,743 (GRCm39)		probably benign	Het
Vmn1r1	A	G	1: 181,985,341 (GRCm39)	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,659,672 (GRCm39)	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491 (GRCm39)	P1851L	possibly damaging	Het
Zfp472	A	T	17: 33,196,717 (GRCm39)	D264V	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
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
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'- TTCCGTGTCTTCACAGAGC -3'
(R):5'- CTCTGTGCATTAGATGTTGATCAGATG -3'

Sequencing Primer
(F):5'- TAGCCTCCATGGATACTGAATGC -3'
(R):5'- GAAAGATTAAAATGTGTTGTGCATGG -3'

Posted On

2016-09-06