Mutagenetix > Incidental Mutation

Incidental Mutation 'R1791:Eml5'

201758

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

039821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R1791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98887056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 95 (V95F)

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: V95F

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: V95F

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 benign
Transcript: ENSMUST00000223282
AA Change: V95F

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

95% (104/110)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Akap13	T	G	7: 75,611,035	C333G	probably benign	Het
Akap6	T	C	12: 53,069,125	S1004P	probably damaging	Het
Akap7	T	C	10: 25,239,685	T181A	probably benign	Het
Ap3b1	A	G	13: 94,408,797	E186G	possibly damaging	Het
Arhgap17	T	C	7: 123,286,702	T736A	probably benign	Het
Bmp8a	G	T	4: 123,324,585	R214S	possibly damaging	Het
Cacna1f	T	C	X: 7,620,439	S890P	probably damaging	Het
Cd96	A	T	16: 46,117,999	Y34*	probably null	Het
Cdc42ep4	A	G	11: 113,729,337	L76P	probably damaging	Het
Cdh23	A	G	10: 60,391,726	V1195A	possibly damaging	Het
Cfap57	G	A	4: 118,571,724	T1015M	possibly damaging	Het
Chrm3	C	A	13: 9,877,416	G528V	probably damaging	Het
Clip4	T	C	17: 71,801,942		probably benign	Het
Col9a1	A	T	1: 24,185,305	R189S	unknown	Het
Cul4b	A	T	X: 38,547,851	I481N	probably damaging	Het
Cyp26b1	A	G	6: 84,584,459	S74P	probably benign	Het
Cyp3a57	A	G	5: 145,371,010	N192S	probably benign	Het
Dcbld1	A	G	10: 52,319,476	D260G	probably damaging	Het
Dhrs7	T	C	12: 72,653,165	N231S	probably benign	Het
Disp3	G	A	4: 148,241,518	P1261L	probably damaging	Het
Dyx1c1	T	C	9: 72,960,684	Y76H	possibly damaging	Het
Emsy	A	G	7: 98,647,880	I32T	probably damaging	Het
Esr1	A	G	10: 4,783,913	R238G	probably damaging	Het
Exosc1	T	C	19: 41,928,085	K84R	probably benign	Het
F830016B08Rik	T	A	18: 60,300,517	V224E	probably benign	Het
Fam228a	T	A	12: 4,732,748	N115I	probably damaging	Het
Farp1	T	C	14: 121,256,745	I546T	probably damaging	Het
Fbxo30	T	A	10: 11,289,787	C84*	probably null	Het
Fbxw17	A	G	13: 50,425,774		probably benign	Het
Foxo4	G	C	X: 101,258,463	R192P	probably benign	Het
Galnt7	G	T	8: 57,542,530	T377K	probably benign	Het
Garnl3	T	C	2: 33,034,127	I248V	probably benign	Het
Glod4	A	G	11: 76,237,708	Y104H	probably damaging	Het
Glrb	T	C	3: 80,860,175	Y246C	probably damaging	Het
Gm5292	A	G	5: 43,944,410		noncoding transcript	Het
Gm5424	C	A	10: 62,072,307		noncoding transcript	Het
Gm7276	C	T	18: 77,185,735		probably benign	Het
Gm9774	T	A	3: 92,428,231	D388V	probably damaging	Het
Golga5	A	G	12: 102,492,131	N611S	possibly damaging	Het
Gucy2c	A	C	6: 136,744,027	Y391D	probably damaging	Het
H6pd	A	G	4: 149,981,673	I760T	probably damaging	Het
Hapln2	T	A	3: 88,024,405	I5F	possibly damaging	Het
Hdac11	G	T	6: 91,168,824	V169L	probably benign	Het
Hectd2	T	C	19: 36,609,416	V557A	possibly damaging	Het
Huwe1	T	A	X: 151,864,753	N747K	probably benign	Het
Ints1	A	G	5: 139,774,522	S66P	probably benign	Het
Ipo7	A	G	7: 110,027,132	D49G	probably damaging	Het
Itgb4	G	A	11: 115,988,520	C575Y	probably damaging	Het
Klhl3	A	G	13: 58,033,230	V250A	possibly damaging	Het
Klk1b24	A	G	7: 44,190,428		probably null	Het
Map3k11	T	A	19: 5,695,572	Y333*	probably null	Het
Mbp	A	G	18: 82,554,349	T57A	probably benign	Het
Myh9	A	G	15: 77,773,264		probably benign	Het
Mypn	C	T	10: 63,125,693	R1040Q	probably damaging	Het
Ncdn	A	G	4: 126,751,939		probably null	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Odf3l1	A	T	9: 56,851,743	F43I	possibly damaging	Het
Olfr509	T	A	7: 108,646,364	T71S	probably benign	Het
Olfr566	G	A	7: 102,856,362	Q307*	probably null	Het
Olfr623	T	C	7: 103,660,798		probably null	Het
Olfr726	A	G	14: 50,084,042	F213S	probably benign	Het
Olfr749	AGGGATTGGG	AGGGATTGGGATTGGG	14: 50,736,687		probably benign	Het
Olfr924	T	A	9: 38,848,605	S164T	possibly damaging	Het
Pbx3	T	C	2: 34,224,452	T82A	possibly damaging	Het
Pi15	T	C	1: 17,602,721	F48S	probably benign	Het
Pkhd1	A	G	1: 20,585,152		probably benign	Het
Ppard	C	G	17: 28,286,374	R12G	unknown	Het
Prrc2c	G	T	1: 162,704,982		probably benign	Het
Prune1	A	G	3: 95,268,242	Y41H	possibly damaging	Het
Rcsd1	T	C	1: 165,655,972	D150G	probably damaging	Het
Rgs12	A	T	5: 34,966,112	Q413L	possibly damaging	Het
Rhox2h	A	G	X: 37,669,195	Y185H	probably damaging	Het
Rnf17	T	A	14: 56,504,007	C1306*	probably null	Het
Ros1	T	A	10: 52,100,087	M1499L	probably benign	Het
Rubcnl	T	C	14: 75,047,549	S503P	probably damaging	Het
Sap18b	A	T	8: 95,825,714	R117S	probably benign	Het
Shank2	A	G	7: 144,410,599	E858G	probably damaging	Het
Shtn1	T	C	19: 59,032,200	R197G	probably damaging	Het
Slamf8	G	A	1: 172,584,520	R163*	probably null	Het
Slc6a3	T	C	13: 73,566,292	I392T	possibly damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Sp8	T	C	12: 118,849,016	V202A	possibly damaging	Het
Spata13	T	C	14: 60,709,459	V652A	probably damaging	Het
Stpg2	A	T	3: 139,317,401	T393S	probably benign	Het
Tagap	A	G	17: 7,933,545	T521A	probably benign	Het
Tagap	T	C	17: 7,931,467	M228T	probably damaging	Het
Tas2r123	T	G	6: 132,847,565	S142A	probably damaging	Het
Tat	T	A	8: 109,991,629	S49T	probably benign	Het
Tfap4	G	T	16: 4,552,069	Q41K	possibly damaging	Het
Thbs2	T	C	17: 14,685,813	N275S	probably benign	Het
Tnfsf14	T	A	17: 57,190,867	R122W	probably damaging	Het
Tnrc6a	T	C	7: 123,192,917	V1886A	possibly damaging	Het
Trim56	G	A	5: 137,114,398	A88V	probably damaging	Het
Trio	A	G	15: 27,841,756	Y1081H	probably damaging	Het
Tspear	T	A	10: 77,870,419	L341H	possibly damaging	Het
Ube2o	G	A	11: 116,541,494	T882I	probably benign	Het
Uhrf1bp1	T	A	17: 27,894,746	D1297E	probably damaging	Het
Upk3a	A	G	15: 85,020,614	T188A	possibly damaging	Het
Vmn1r79	A	C	7: 12,176,431	D80A	probably damaging	Het
Wls	C	A	3: 159,911,813	T375K	probably benign	Het
Wnt5a	T	C	14: 28,511,878	M1T	probably null	Het
Zcchc4	A	G	5: 52,796,590	E204G	probably damaging	Het
Zfp513	G	A	5: 31,200,334	P232S	possibly damaging	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98873209	splice site	probably benign
IGL00473:Eml5	APN	12	98805492	splice site	probably benign
IGL01120:Eml5	APN	12	98844019	missense	probably benign
IGL01308:Eml5	APN	12	98802313	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98798932	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98863280	missense	probably benign
IGL02182:Eml5	APN	12	98802322	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98794424	splice site	probably benign
IGL02375:Eml5	APN	12	98844087	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98790674	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98876243	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98817845	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98858841	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98861245	nonsense	probably null
IGL03158:Eml5	APN	12	98827514	splice site	probably benign
IGL03286:Eml5	APN	12	98860503	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98874647	splice site	probably benign
BB010:Eml5	UTSW	12	98844020	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98844020	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98824772	splice site	probably null
R0624:Eml5	UTSW	12	98865479	missense	probably damaging	1.00
R0993:Eml5	UTSW	12	98861183	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98830973	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98792046	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98831003	splice site	probably benign
R1469:Eml5	UTSW	12	98858823	missense	probably benign
R1469:Eml5	UTSW	12	98858823	missense	probably benign
R1503:Eml5	UTSW	12	98831174	missense	probably damaging	0.99
R1538:Eml5	UTSW	12	98794276	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98830935	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98798839	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98852704	splice site	probably null
R1856:Eml5	UTSW	12	98810584	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98798839	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98859961	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98876311	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98791386	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98794266	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98802446	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98810605	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98810605	missense	probably damaging	1.00
R2158:Eml5	UTSW	12	98843946	splice site	probably benign
R2164:Eml5	UTSW	12	98887097	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98876223	nonsense	probably null
R2200:Eml5	UTSW	12	98825417	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98841581	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98844105	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98865401	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98865401	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98876178	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98880808	splice site	probably null
R3118:Eml5	UTSW	12	98865494	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98855989	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98816024	missense	probably damaging	1.00
R3900:Eml5	UTSW	12	98825523	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98802465	splice site	probably benign
R3976:Eml5	UTSW	12	98802465	splice site	probably benign
R4105:Eml5	UTSW	12	98841548	splice site	probably null
R4107:Eml5	UTSW	12	98841548	splice site	probably null
R4108:Eml5	UTSW	12	98841548	splice site	probably null
R4109:Eml5	UTSW	12	98841548	splice site	probably null
R4258:Eml5	UTSW	12	98865434	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98815955	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98837341	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98798852	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98802307	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98790619	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98830965	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98792616	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98874512	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98792042	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98790688	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98858783	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98794158	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98825555	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98790619	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98876188	missense	probably benign
R6113:Eml5	UTSW	12	98824674	nonsense	probably null
R6131:Eml5	UTSW	12	98861251	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98794456	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98863129	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98870884	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98798868
R6528:Eml5	UTSW	12	98824637	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98791405	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98827506	missense	probably damaging	1.00
R6751:Eml5	UTSW	12	98865400	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98887024	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98887024	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98876180	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98802474	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98825424	missense
R7644:Eml5	UTSW	12	98855944	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98792563	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98794135	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98844020	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98792514	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98858886	nonsense	probably null
R8482:Eml5	UTSW	12	98876301	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98815959	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98852693	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98810570	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98858840	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98844117	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98856028	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98798801	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98882033	nonsense	probably null
R9368:Eml5	UTSW	12	98796578	missense	probably benign	0.31
R9392:Eml5	UTSW	12	98900940	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98876174	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98861295	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98815984	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98841582	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGGTAACAATGAAATCAACAAC -3'
(R):5'- GCACACTATATCACATGGAGTTTATG -3'

Sequencing Primer
(F):5'- GGAATTGAACCCAGGTCCTCTAG -3'
(R):5'- CATGGAGTTTATGAAGTCTATAATT -3'

Posted On

2014-06-23