Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Eml5'

710697

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98753064-98867743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98842433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 222 (V222I)

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: V222I

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: V222I

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: V222I

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,616,270 (GRCm39)	S133G	possibly damaging	Het
Agps	A	G	2: 75,735,256 (GRCm39)	E567G	possibly damaging	Het
Ak9	T	C	10: 41,285,068 (GRCm39)	I1381T	unknown	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arrb1	T	A	7: 99,238,891 (GRCm39)	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,330 (GRCm39)	I450V	probably benign	Het
Atp10b	A	G	11: 43,063,608 (GRCm39)	N181S	probably damaging	Het
Bptf	A	C	11: 106,965,134 (GRCm39)	D1353E	probably benign	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc106	T	A	7: 5,059,200 (GRCm39)	I6N	possibly damaging	Het
Celf6	A	T	9: 59,510,525 (GRCm39)	Q252L	probably benign	Het
Colgalt2	A	T	1: 152,360,598 (GRCm39)	K212*	probably null	Het
Cryba4	T	C	5: 112,394,632 (GRCm39)	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,342,035 (GRCm39)	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,382,566 (GRCm39)	K285N	probably damaging	Het
Cyth1	G	T	11: 118,074,710 (GRCm39)	T197K	probably benign	Het
Ddhd1	A	G	14: 45,894,685 (GRCm39)	W262R	probably damaging	Het
Dnah8	T	A	17: 30,872,361 (GRCm39)	V450D	possibly damaging	Het
Fbxw19	A	G	9: 109,324,873 (GRCm39)	S15P	probably damaging	Het
Fhip2b	G	A	14: 70,831,463 (GRCm39)	Q24*	probably null	Het
Fignl2	C	A	15: 100,951,466 (GRCm39)	R272L	unknown	Het
Gm10842	A	T	11: 105,037,885 (GRCm39)	D56V	unknown	Het
Gmps	T	A	3: 63,900,640 (GRCm39)	N305K	probably benign	Het
Gnai1	A	T	5: 18,565,055 (GRCm39)	L38Q		Het
Golim4	A	T	3: 75,785,464 (GRCm39)	D642E	probably benign	Het
Gp1ba	A	T	11: 70,531,293 (GRCm39)	Q353L	unknown	Het
Gpnmb	T	C	6: 49,024,996 (GRCm39)	S343P	possibly damaging	Het
Hexb	G	A	13: 97,313,336 (GRCm39)	R507*	probably null	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Khsrp	T	C	17: 57,330,350 (GRCm39)	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,853,981 (GRCm39)	D795E	probably benign	Het
Klkb1	A	T	8: 45,729,392 (GRCm39)	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,764,664 (GRCm39)	C133*	probably null	Het
Krtcap2	T	C	3: 89,153,578 (GRCm39)		probably benign	Het
Lilra5	T	C	7: 4,240,758 (GRCm39)	M1T	probably null	Het
Magi1	G	A	6: 93,659,890 (GRCm39)	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825 (GRCm39)	H1967Q		Het
Mgat4f	A	G	1: 134,318,596 (GRCm39)	D456G	probably benign	Het
Mroh2b	A	T	15: 4,980,666 (GRCm39)	T1412S	probably benign	Het
Myh13	A	T	11: 67,242,894 (GRCm39)	M936L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ncapd3	A	G	9: 26,962,682 (GRCm39)	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,320,784 (GRCm39)		probably null	Het
Nrg4	C	T	9: 55,149,420 (GRCm39)	S59N	probably benign	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or11g24	T	C	14: 50,662,255 (GRCm39)	V93A	probably benign	Het
Or9k2	T	C	10: 129,999,016 (GRCm39)	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,840,212 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,475,955 (GRCm39)	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,571,296 (GRCm39)	Y787*	probably null	Het
Psma8	G	A	18: 14,839,298 (GRCm39)	R4Q	probably null	Het
Reg4	A	G	3: 98,137,168 (GRCm39)	K46E	probably benign	Het
Rnf14	T	A	18: 38,442,680 (GRCm39)	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,263,586 (GRCm39)	Y753*	probably null	Het
Slc26a11	A	G	11: 119,259,627 (GRCm39)	R275G	probably benign	Het
Stard9	A	G	2: 120,518,656 (GRCm39)	T527A	possibly damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas1r1	C	T	4: 152,116,413 (GRCm39)	C407Y	probably damaging	Het
Tcstv1b	A	T	13: 120,634,958 (GRCm39)	Y80F	probably benign	Het
Tenm3	A	G	8: 49,127,559 (GRCm39)	S40P	probably damaging	Het
Tespa1	T	A	10: 130,183,066 (GRCm39)	S4T	probably damaging	Het
Tlr11	A	G	14: 50,599,547 (GRCm39)	N511S	probably benign	Het
Tmprss15	A	G	16: 78,754,211 (GRCm39)	I1014T	probably benign	Het
Tpte	T	A	8: 22,774,990 (GRCm39)	M20K	probably benign	Het
Ttn	A	G	2: 76,612,390 (GRCm39)	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,703,411 (GRCm39)	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,212,613 (GRCm39)	V5081E	unknown	Het
Unkl	T	C	17: 25,448,392 (GRCm39)	S322P	probably damaging	Het
Uqcc6	A	G	10: 82,458,475 (GRCm39)	S59P	unknown	Het
Vav3	T	A	3: 109,485,682 (GRCm39)		probably null	Het
Vmn1r76	A	G	7: 11,664,765 (GRCm39)	S150P	probably benign	Het
Xpot	A	G	10: 121,445,600 (GRCm39)		probably null	Het
Xylt1	A	G	7: 117,242,906 (GRCm39)	I650V	probably benign	Het
Zan	C	A	5: 137,403,682 (GRCm39)	A3955S	unknown	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)
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
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'- TGCAGCTAATCTAGAAACTCTATGG -3'
(R):5'- TAGGCAATTTCTAGCCTGCTACC -3'

Sequencing Primer
(F):5'- TCTGCACTATTCTGAAAAATACACTG -3'
(R):5'- TTTCTAGCCTGCTACCATAGTATAG -3'

Posted On

2022-04-18