Mutagenetix > Incidental Mutation

Incidental Mutation 'R3856:Eml5'

276176

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

040902-MU

Accession Numbers

Essential gene?

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

Stock #

R3856 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98753064-98867743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98782283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1336 (D1336G)

Ref Sequence

ENSEMBL: ENSMUSP00000065643 (fasta)

Gene Model

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

AlphaFold

Q8BQM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065716
AA Change: D1336G

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

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: D1336G

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: D165G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222872

Predicted Effect

probably damaging
Transcript: ENSMUST00000223282
AA Change: D1383G

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

Meta Mutation Damage Score

0.9282

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.7%
20x: 92.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,292,882 (GRCm39)	S469P	possibly damaging	Het
Adgrf5	A	T	17: 43,757,927 (GRCm39)	N787I	possibly damaging	Het
Ank2	T	C	3: 126,723,493 (GRCm39)	T945A	probably benign	Het
Aox4	T	A	1: 58,293,093 (GRCm39)	I863N	probably damaging	Het
Ap3d1	A	G	10: 80,548,019 (GRCm39)	I891T	probably benign	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Atxn7l1	A	G	12: 33,417,599 (GRCm39)	T587A	probably damaging	Het
Atxn7l3	T	C	11: 102,184,729 (GRCm39)	D128G	probably damaging	Het
Cacna1h	T	C	17: 25,611,427 (GRCm39)	Y457C	probably damaging	Het
Ccdc60	A	C	5: 116,310,514 (GRCm39)	C183G	probably damaging	Het
Cep131	G	A	11: 119,958,011 (GRCm39)	R772*	probably null	Het
Cnst	C	T	1: 179,407,279 (GRCm39)	P109S	probably benign	Het
Crtc2	G	T	3: 90,169,877 (GRCm39)	L509F	probably damaging	Het
Ctsr	A	T	13: 61,309,750 (GRCm39)	I153N	possibly damaging	Het
Dffa	A	T	4: 149,188,708 (GRCm39)	M1L	possibly damaging	Het
Dnajc16	G	A	4: 141,490,964 (GRCm39)	R729*	probably null	Het
Eef2k	T	A	7: 120,498,594 (GRCm39)	C91*	probably null	Het
F12	G	A	13: 55,569,035 (GRCm39)		probably null	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fbxo40	A	T	16: 36,789,445 (GRCm39)	L555Q	probably damaging	Het
Frmpd1	T	C	4: 45,283,698 (GRCm39)	S840P	probably damaging	Het
Gadd45a	C	T	6: 67,013,989 (GRCm39)		probably null	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm5592	G	A	7: 40,807,259 (GRCm39)		probably benign	Het
Gpr171	T	C	3: 59,005,506 (GRCm39)	T90A	probably damaging	Het
Gpr82	A	T	X: 13,531,577 (GRCm39)	T42S	probably benign	Het
H2-M10.6	T	A	17: 37,123,396 (GRCm39)	I30N	probably benign	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Hspa4l	C	A	3: 40,739,821 (GRCm39)	H698Q	probably benign	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Kdm4a	C	T	4: 118,010,428 (GRCm39)	R605H	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Or52ae7	T	A	7: 103,119,867 (GRCm39)	V207E	probably damaging	Het
Pbp2	A	G	6: 135,287,143 (GRCm39)	L68P	probably benign	Het
Pcnx3	G	T	19: 5,728,995 (GRCm39)	T547K	probably benign	Het
Ppp1r12a	T	C	10: 108,089,362 (GRCm39)		probably benign	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Pudp	T	C	18: 50,701,124 (GRCm39)	N203S	probably benign	Het
Rnf213	T	C	11: 119,371,765 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,015,717 (GRCm39)	T737M	probably damaging	Het
Scn2b	A	G	9: 45,036,759 (GRCm39)	N89S	possibly damaging	Het
Sgsm1	A	G	5: 113,411,125 (GRCm39)	V580A	probably benign	Het
Slc13a4	C	A	6: 35,248,539 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,380,698 (GRCm39)	S1015R	probably benign	Het
Slc8a1	T	C	17: 81,955,803 (GRCm39)	T412A	probably benign	Het
Spag17	A	T	3: 100,014,075 (GRCm39)	D2116V	probably damaging	Het
Trim55	T	C	3: 19,727,120 (GRCm39)	F396L	probably benign	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vmn1r189	A	T	13: 22,286,439 (GRCm39)	F133I	possibly damaging	Het
Zfp735	T	C	11: 73,602,282 (GRCm39)	S409P	probably benign	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
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
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'- TGAGACCCTGTCTTGAAAACAAAC -3'
(R):5'- ACTTTTGGGGAAGAAGAGGTTC -3'

Sequencing Primer
(F):5'- GACCCTGTCTTGAAAACAAACCAAAC -3'
(R):5'- TTTGGGGAAGAAGAGGTTCAGTGG -3'

Posted On

2015-04-06