Mutagenetix > Incidental Mutation

Incidental Mutation 'R3900:Eml5'

308951

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

041607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R3900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98786805-98901484 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98825523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1245 (R1245C)

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: R1206C

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: R1206C

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: R30C

Predicted Effect

probably damaging
Transcript: ENSMUST00000223282
AA Change: R1245C

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

Meta Mutation Damage Score

0.4341

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,552,968 (GRCm38)	S212R	probably damaging	Het
AI182371	T	C	2: 35,085,216 (GRCm38)	I334V	probably benign	Het
Anpep	A	G	7: 79,839,225 (GRCm38)	S372P	probably benign	Het
Apc2	C	A	10: 80,295,972 (GRCm38)		probably null	Het
Bcl6	T	G	16: 23,977,554 (GRCm38)	E41A	possibly damaging	Het
Brpf1	A	G	6: 113,318,433 (GRCm38)	I674V	probably benign	Het
Cherp	A	G	8: 72,469,936 (GRCm38)	I201T	possibly damaging	Het
Cluh	A	G	11: 74,667,104 (GRCm38)	H1056R	probably benign	Het
Csgalnact2	A	T	6: 118,121,014 (GRCm38)	F122I	probably damaging	Het
Cubn	C	A	2: 13,286,980 (GRCm38)		probably null	Het
Dnah17	A	T	11: 118,094,808 (GRCm38)	I1481N	possibly damaging	Het
Eif2ak4	A	G	2: 118,475,029 (GRCm38)	Y1561C	probably damaging	Het
Elfn1	G	A	5: 139,971,964 (GRCm38)	R241H	probably damaging	Het
Fchsd2	A	G	7: 101,191,799 (GRCm38)	K172E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm6133	A	G	18: 78,350,150 (GRCm38)	N120D	probably benign	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Igsf9	T	C	1: 172,489,558 (GRCm38)	L35P	probably damaging	Het
Khdc3	T	C	9: 73,104,346 (GRCm38)		probably benign	Het
Mmrn2	G	T	14: 34,399,560 (GRCm38)		probably null	Het
Mrgpra1	G	T	7: 47,335,527 (GRCm38)	R135S	possibly damaging	Het
Olfr1201	A	T	2: 88,794,929 (GRCm38)	L182F	possibly damaging	Het
Olfr971	A	G	9: 39,839,402 (GRCm38)		probably null	Het
Otud3	T	C	4: 138,896,885 (GRCm38)	N282S	probably benign	Het
Prkar1a	A	G	11: 109,661,075 (GRCm38)	K130R	probably benign	Het
Rd3	T	C	1: 191,985,256 (GRCm38)	V114A	probably damaging	Het
Rictor	T	G	15: 6,789,473 (GRCm38)	D1392E	probably benign	Het
Setd2	C	T	9: 110,592,518 (GRCm38)	R273W	probably damaging	Het
Slc22a18	C	A	7: 143,479,770 (GRCm38)	A86E	probably damaging	Het
Slc24a1	A	T	9: 64,928,144 (GRCm38)	S900R	probably damaging	Het
Smarcc1	T	C	9: 110,118,518 (GRCm38)		probably benign	Het
Smoc1	T	C	12: 81,167,513 (GRCm38)	V234A	probably damaging	Het
Stard9	A	G	2: 120,713,549 (GRCm38)	T4443A	possibly damaging	Het
Timp2	C	T	11: 118,303,716 (GRCm38)	D139N	probably damaging	Het
Trim69	A	G	2: 122,178,841 (GRCm38)	T461A	probably benign	Het
Ubash3b	C	T	9: 41,031,564 (GRCm38)	D211N	probably benign	Het
Ubr4	T	C	4: 139,479,062 (GRCm38)		probably null	Het
Ubr5	T	C	15: 38,019,242 (GRCm38)	D752G	probably damaging	Het
Urb1	A	T	16: 90,783,376 (GRCm38)	I633N	possibly damaging	Het
Usp36	T	A	11: 118,279,824 (GRCm38)	D28V	possibly damaging	Het
Wdr6	G	A	9: 108,575,769 (GRCm38)	A305V	probably damaging	Het
Zfp248	T	C	6: 118,429,566 (GRCm38)	N253S	probably damaging	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98,873,209 (GRCm38)	splice site	probably benign
IGL00473:Eml5	APN	12	98,805,492 (GRCm38)	splice site	probably benign
IGL01120:Eml5	APN	12	98,844,019 (GRCm38)	missense	probably benign
IGL01308:Eml5	APN	12	98,802,313 (GRCm38)	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98,798,932 (GRCm38)	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98,863,280 (GRCm38)	missense	probably benign
IGL02182:Eml5	APN	12	98,802,322 (GRCm38)	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98,794,424 (GRCm38)	splice site	probably benign
IGL02375:Eml5	APN	12	98,844,087 (GRCm38)	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98,790,674 (GRCm38)	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98,876,243 (GRCm38)	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98,817,845 (GRCm38)	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98,858,841 (GRCm38)	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98,861,245 (GRCm38)	nonsense	probably null
IGL03158:Eml5	APN	12	98,827,514 (GRCm38)	splice site	probably benign
IGL03286:Eml5	APN	12	98,860,503 (GRCm38)	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98,874,647 (GRCm38)	splice site	probably benign
BB010:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98,824,772 (GRCm38)	splice site	probably null
R0624:Eml5	UTSW	12	98,865,479 (GRCm38)	missense	probably damaging	1.00
R0993:Eml5	UTSW	12	98,861,183 (GRCm38)	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98,830,973 (GRCm38)	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98,792,046 (GRCm38)	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98,831,003 (GRCm38)	splice site	probably benign
R1469:Eml5	UTSW	12	98,858,823 (GRCm38)	missense	probably benign
R1469:Eml5	UTSW	12	98,858,823 (GRCm38)	missense	probably benign
R1503:Eml5	UTSW	12	98,831,174 (GRCm38)	missense	probably damaging	0.99
R1538:Eml5	UTSW	12	98,794,276 (GRCm38)	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98,830,935 (GRCm38)	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98,798,839 (GRCm38)	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98,852,704 (GRCm38)	splice site	probably null
R1791:Eml5	UTSW	12	98,887,056 (GRCm38)	missense	probably benign	0.31
R1856:Eml5	UTSW	12	98,810,584 (GRCm38)	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98,798,839 (GRCm38)	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98,859,961 (GRCm38)	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98,876,311 (GRCm38)	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98,791,386 (GRCm38)	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98,794,266 (GRCm38)	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98,802,446 (GRCm38)	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98,810,605 (GRCm38)	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98,810,605 (GRCm38)	missense	probably damaging	1.00
R2158:Eml5	UTSW	12	98,843,946 (GRCm38)	splice site	probably benign
R2164:Eml5	UTSW	12	98,887,097 (GRCm38)	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98,876,223 (GRCm38)	nonsense	probably null
R2200:Eml5	UTSW	12	98,825,417 (GRCm38)	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98,841,581 (GRCm38)	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98,844,105 (GRCm38)	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98,865,401 (GRCm38)	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98,865,401 (GRCm38)	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98,876,178 (GRCm38)	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98,880,808 (GRCm38)	splice site	probably null
R3118:Eml5	UTSW	12	98,865,494 (GRCm38)	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98,855,989 (GRCm38)	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98,816,024 (GRCm38)	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98,802,465 (GRCm38)	splice site	probably benign
R3976:Eml5	UTSW	12	98,802,465 (GRCm38)	splice site	probably benign
R4105:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4107:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4108:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4109:Eml5	UTSW	12	98,841,548 (GRCm38)	splice site	probably null
R4258:Eml5	UTSW	12	98,865,434 (GRCm38)	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98,815,955 (GRCm38)	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98,837,341 (GRCm38)	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98,798,852 (GRCm38)	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98,802,307 (GRCm38)	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98,790,619 (GRCm38)	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98,830,965 (GRCm38)	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98,792,616 (GRCm38)	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98,874,512 (GRCm38)	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98,792,042 (GRCm38)	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98,790,688 (GRCm38)	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98,858,783 (GRCm38)	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98,794,158 (GRCm38)	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98,825,555 (GRCm38)	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98,790,619 (GRCm38)	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98,876,188 (GRCm38)	missense	probably benign
R6113:Eml5	UTSW	12	98,824,674 (GRCm38)	nonsense	probably null
R6131:Eml5	UTSW	12	98,861,251 (GRCm38)	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98,794,456 (GRCm38)	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98,863,129 (GRCm38)	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98,870,884 (GRCm38)	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98,798,868 (GRCm38)
R6528:Eml5	UTSW	12	98,824,637 (GRCm38)	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98,791,405 (GRCm38)	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98,827,506 (GRCm38)	missense	probably damaging	1.00
R6751:Eml5	UTSW	12	98,865,400 (GRCm38)	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98,887,024 (GRCm38)	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98,887,024 (GRCm38)	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98,876,180 (GRCm38)	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98,802,474 (GRCm38)	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98,825,424 (GRCm38)	missense
R7644:Eml5	UTSW	12	98,855,944 (GRCm38)	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98,792,563 (GRCm38)	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98,794,135 (GRCm38)	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98,844,020 (GRCm38)	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98,792,514 (GRCm38)	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98,858,886 (GRCm38)	nonsense	probably null
R8482:Eml5	UTSW	12	98,876,301 (GRCm38)	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98,815,959 (GRCm38)	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98,852,693 (GRCm38)	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98,810,570 (GRCm38)	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98,858,840 (GRCm38)	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98,844,117 (GRCm38)	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98,856,028 (GRCm38)	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98,798,801 (GRCm38)	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98,882,033 (GRCm38)	nonsense	probably null
R9368:Eml5	UTSW	12	98,796,578 (GRCm38)	missense	probably benign	0.31
R9392:Eml5	UTSW	12	98,900,940 (GRCm38)	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98,876,174 (GRCm38)	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98,861,295 (GRCm38)	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98,815,984 (GRCm38)	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98,841,582 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTGTAAAGCTGACCAAAAC -3'
(R):5'- GGTACTTACCAATGAAAGCACAAGTG -3'

Sequencing Primer
(F):5'- CTTCTGTAGTTTGAATCAGTGAAGC -3'
(R):5'- TACCAATGAAAGCACAAGTGAATTG -3'

Posted On

2015-04-17