Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Eml6'

558070

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29693048-29976033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29788529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 519 (I519F)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058902]

AlphaFold

Q5SQM0

Predicted Effect

probably benign
Transcript: ENSMUST00000058902
AA Change: I519F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: I519F

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
WD40	49	91	1.79e-1	SMART
WD40	94	136	1.42e-4	SMART
WD40	139	178	5.31e-4	SMART
WD40	184	224	8.84e1	SMART
WD40	225	263	3.75e-4	SMART
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.22e0	SMART
WD40	397	436	1.72e0	SMART
WD40	505	546	1.7e2	SMART
WD40	552	592	4.55e-3	SMART
low complexity region	613	625	N/A	INTRINSIC
Pfam:HELP	653	715	1.9e-22	PFAM
WD40	716	757	9.24e-1	SMART
WD40	760	802	6.53e-4	SMART
WD40	805	844	2.98e-1	SMART
WD40	856	891	8.52e1	SMART
WD40	892	929	2.09e-2	SMART
WD40	986	1026	1.18e-1	SMART
WD40	1032	1068	3.44e0	SMART
WD40	1071	1111	2.58e-1	SMART
WD40	1180	1221	9.24e-1	SMART
WD40	1227	1267	3.85e-1	SMART
low complexity region	1280	1291	N/A	INTRINSIC
Pfam:HELP	1329	1402	5e-15	PFAM
WD40	1404	1447	2.66e0	SMART
WD40	1450	1492	1.85e0	SMART
WD40	1495	1534	2.97e0	SMART
WD40	1543	1582	7.1e1	SMART
WD40	1584	1629	9.51e1	SMART
WD40	1675	1715	3.05e-4	SMART
WD40	1718	1758	8.84e1	SMART
WD40	1759	1798	7.16e-1	SMART
WD40	1869	1910	1.53e1	SMART
WD40	1916	1956	4.62e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	probably damaging	Het

Other mutations in Eml6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Eml6	APN	11	29,800,816 (GRCm39)	critical splice donor site	probably null
IGL01407:Eml6	APN	11	29,705,021 (GRCm39)	nonsense	probably null
IGL01434:Eml6	APN	11	29,769,090 (GRCm39)	missense	probably damaging	1.00
IGL01578:Eml6	APN	11	29,800,870 (GRCm39)	missense	probably benign	0.02
IGL01780:Eml6	APN	11	29,755,175 (GRCm39)	missense	probably benign	0.17
IGL01821:Eml6	APN	11	29,771,699 (GRCm39)	missense	probably benign	0.00
IGL01837:Eml6	APN	11	29,727,055 (GRCm39)	missense	probably benign	0.00
IGL01904:Eml6	APN	11	29,788,613 (GRCm39)	nonsense	probably null
IGL01972:Eml6	APN	11	29,788,451 (GRCm39)	missense	possibly damaging	0.67
IGL02134:Eml6	APN	11	29,709,066 (GRCm39)	missense	probably benign	0.13
IGL02192:Eml6	APN	11	29,755,743 (GRCm39)	missense	probably benign	0.00
IGL02377:Eml6	APN	11	29,727,282 (GRCm39)	missense	probably damaging	0.98
IGL02584:Eml6	APN	11	29,699,387 (GRCm39)	missense	probably damaging	0.99
IGL02587:Eml6	APN	11	29,734,236 (GRCm39)	missense	possibly damaging	0.92
IGL02810:Eml6	APN	11	29,799,016 (GRCm39)	missense	possibly damaging	0.94
IGL02873:Eml6	APN	11	29,830,700 (GRCm39)	missense	probably benign	0.10
IGL02880:Eml6	APN	11	29,699,959 (GRCm39)	missense	probably benign	0.03
IGL03289:Eml6	APN	11	29,745,328 (GRCm39)	missense	possibly damaging	0.49
IGL03301:Eml6	APN	11	29,714,083 (GRCm39)	missense	probably benign	0.18
IGL03386:Eml6	APN	11	29,699,934 (GRCm39)	missense	probably benign
IGL03407:Eml6	APN	11	29,856,330 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Eml6	UTSW	11	29,752,489 (GRCm39)	missense	probably damaging	1.00
R0125:Eml6	UTSW	11	29,832,088 (GRCm39)	missense	probably benign	0.19
R0240:Eml6	UTSW	11	29,742,367 (GRCm39)	missense	possibly damaging	0.84
R0240:Eml6	UTSW	11	29,742,367 (GRCm39)	missense	possibly damaging	0.84
R0271:Eml6	UTSW	11	29,798,949 (GRCm39)	missense	possibly damaging	0.48
R0304:Eml6	UTSW	11	29,727,441 (GRCm39)	missense	probably benign	0.00
R0415:Eml6	UTSW	11	29,699,392 (GRCm39)	missense	possibly damaging	0.84
R0449:Eml6	UTSW	11	29,843,213 (GRCm39)	missense	probably benign	0.01
R0538:Eml6	UTSW	11	29,710,010 (GRCm39)	splice site	probably benign
R0671:Eml6	UTSW	11	29,755,065 (GRCm39)	missense	probably benign	0.00
R0766:Eml6	UTSW	11	29,781,219 (GRCm39)	splice site	probably benign
R0800:Eml6	UTSW	11	29,699,877 (GRCm39)	missense	probably benign	0.08
R0841:Eml6	UTSW	11	29,727,430 (GRCm39)	missense	probably benign	0.41
R0879:Eml6	UTSW	11	29,800,816 (GRCm39)	critical splice donor site	probably null
R1061:Eml6	UTSW	11	29,727,267 (GRCm39)	missense	probably damaging	1.00
R1145:Eml6	UTSW	11	29,727,430 (GRCm39)	missense	probably benign	0.41
R1145:Eml6	UTSW	11	29,727,430 (GRCm39)	missense	probably benign	0.41
R1172:Eml6	UTSW	11	29,699,824 (GRCm39)	missense	possibly damaging	0.54
R1173:Eml6	UTSW	11	29,699,824 (GRCm39)	missense	possibly damaging	0.54
R1174:Eml6	UTSW	11	29,699,824 (GRCm39)	missense	possibly damaging	0.54
R1199:Eml6	UTSW	11	29,705,044 (GRCm39)	missense	possibly damaging	0.93
R1311:Eml6	UTSW	11	29,781,088 (GRCm39)	splice site	probably benign
R1312:Eml6	UTSW	11	29,781,219 (GRCm39)	splice site	probably benign
R1355:Eml6	UTSW	11	29,783,085 (GRCm39)	missense	probably benign	0.03
R1370:Eml6	UTSW	11	29,783,085 (GRCm39)	missense	probably benign	0.03
R1457:Eml6	UTSW	11	29,974,459 (GRCm39)	missense	probably damaging	1.00
R1486:Eml6	UTSW	11	29,755,114 (GRCm39)	missense	possibly damaging	0.83
R1511:Eml6	UTSW	11	29,768,374 (GRCm39)	missense	probably damaging	1.00
R1532:Eml6	UTSW	11	29,742,256 (GRCm39)	splice site	probably null
R1642:Eml6	UTSW	11	29,727,001 (GRCm39)	critical splice donor site	probably null
R1682:Eml6	UTSW	11	29,709,065 (GRCm39)	missense	probably benign	0.13
R1687:Eml6	UTSW	11	29,783,187 (GRCm39)	missense	probably damaging	1.00
R1699:Eml6	UTSW	11	29,696,282 (GRCm39)	nonsense	probably null
R1796:Eml6	UTSW	11	29,831,975 (GRCm39)	missense	probably benign	0.19
R1797:Eml6	UTSW	11	29,832,041 (GRCm39)	missense	probably benign	0.09
R1837:Eml6	UTSW	11	29,699,802 (GRCm39)	splice site	probably null
R1874:Eml6	UTSW	11	29,781,136 (GRCm39)	missense	probably damaging	0.99
R1967:Eml6	UTSW	11	29,974,545 (GRCm39)	missense	probably damaging	1.00
R1969:Eml6	UTSW	11	29,783,075 (GRCm39)	missense	probably benign
R2007:Eml6	UTSW	11	29,798,814 (GRCm39)	critical splice donor site	probably null
R2012:Eml6	UTSW	11	29,781,128 (GRCm39)	missense	possibly damaging	0.85
R2198:Eml6	UTSW	11	29,800,935 (GRCm39)	missense	probably benign	0.01
R2217:Eml6	UTSW	11	29,768,907 (GRCm39)	missense	probably damaging	1.00
R2218:Eml6	UTSW	11	29,768,907 (GRCm39)	missense	probably damaging	1.00
R2403:Eml6	UTSW	11	29,752,434 (GRCm39)	missense	probably benign	0.05
R2520:Eml6	UTSW	11	29,741,993 (GRCm39)	missense	probably damaging	1.00
R2937:Eml6	UTSW	11	29,783,049 (GRCm39)	splice site	probably benign
R2938:Eml6	UTSW	11	29,783,049 (GRCm39)	splice site	probably benign
R3085:Eml6	UTSW	11	29,759,332 (GRCm39)	missense	probably damaging	0.96
R3236:Eml6	UTSW	11	29,781,097 (GRCm39)	critical splice donor site	probably null
R3738:Eml6	UTSW	11	29,753,137 (GRCm39)	missense	probably benign	0.20
R3739:Eml6	UTSW	11	29,753,137 (GRCm39)	missense	probably benign	0.20
R3752:Eml6	UTSW	11	29,759,360 (GRCm39)	missense	probably benign	0.06
R3854:Eml6	UTSW	11	29,699,905 (GRCm39)	missense	possibly damaging	0.76
R3941:Eml6	UTSW	11	29,753,167 (GRCm39)	missense	probably damaging	0.98
R4034:Eml6	UTSW	11	29,753,137 (GRCm39)	missense	probably benign	0.20
R4049:Eml6	UTSW	11	29,788,577 (GRCm39)	missense	probably damaging	1.00
R4108:Eml6	UTSW	11	29,755,136 (GRCm39)	missense	probably damaging	0.98
R4657:Eml6	UTSW	11	29,755,108 (GRCm39)	missense	possibly damaging	0.77
R4662:Eml6	UTSW	11	29,727,390 (GRCm39)	missense	probably damaging	1.00
R4665:Eml6	UTSW	11	29,769,007 (GRCm39)	nonsense	probably null
R4721:Eml6	UTSW	11	29,788,525 (GRCm39)	missense	possibly damaging	0.95
R4729:Eml6	UTSW	11	29,783,204 (GRCm39)	missense	probably damaging	1.00
R4766:Eml6	UTSW	11	29,755,757 (GRCm39)	missense	probably benign	0.22
R4810:Eml6	UTSW	11	29,705,011 (GRCm39)	missense	possibly damaging	0.92
R4831:Eml6	UTSW	11	29,727,052 (GRCm39)	nonsense	probably null
R5035:Eml6	UTSW	11	29,804,187 (GRCm39)	missense	probably benign	0.00
R5064:Eml6	UTSW	11	29,699,300 (GRCm39)	missense	probably benign	0.12
R5103:Eml6	UTSW	11	29,800,905 (GRCm39)	missense	possibly damaging	0.65
R5121:Eml6	UTSW	11	29,694,606 (GRCm39)	missense	probably benign	0.03
R5161:Eml6	UTSW	11	29,974,467 (GRCm39)	missense	probably damaging	0.99
R5211:Eml6	UTSW	11	29,804,145 (GRCm39)	missense	probably benign	0.02
R5268:Eml6	UTSW	11	29,753,108 (GRCm39)	missense	probably benign	0.15
R5390:Eml6	UTSW	11	29,710,096 (GRCm39)	missense	probably damaging	1.00
R5529:Eml6	UTSW	11	29,714,126 (GRCm39)	missense	probably benign	0.04
R6239:Eml6	UTSW	11	29,699,275 (GRCm39)	missense	probably damaging	1.00
R6326:Eml6	UTSW	11	29,769,066 (GRCm39)	missense	probably damaging	1.00
R6395:Eml6	UTSW	11	29,759,321 (GRCm39)	missense	probably benign	0.00
R6476:Eml6	UTSW	11	29,741,971 (GRCm39)	critical splice donor site	probably null
R6483:Eml6	UTSW	11	29,699,875 (GRCm39)	missense	probably benign	0.00
R6701:Eml6	UTSW	11	29,735,748 (GRCm39)	missense	probably damaging	0.98
R6753:Eml6	UTSW	11	29,704,987 (GRCm39)	missense	probably damaging	1.00
R6809:Eml6	UTSW	11	29,753,161 (GRCm39)	missense	probably benign	0.23
R6847:Eml6	UTSW	11	29,768,447 (GRCm39)	missense	probably benign	0.00
R6855:Eml6	UTSW	11	29,701,381 (GRCm39)	splice site	probably null
R7175:Eml6	UTSW	11	29,734,231 (GRCm39)	missense	probably benign	0.00
R7305:Eml6	UTSW	11	29,727,258 (GRCm39)	missense	probably benign	0.01
R7615:Eml6	UTSW	11	29,752,501 (GRCm39)	missense	possibly damaging	0.49
R7692:Eml6	UTSW	11	29,703,085 (GRCm39)	missense	probably damaging	0.98
R7980:Eml6	UTSW	11	29,783,205 (GRCm39)	missense	probably damaging	1.00
R8026:Eml6	UTSW	11	29,699,973 (GRCm39)	missense	possibly damaging	0.63
R8046:Eml6	UTSW	11	29,708,981 (GRCm39)	missense	probably damaging	0.99
R8049:Eml6	UTSW	11	29,843,201 (GRCm39)	missense	possibly damaging	0.95
R8114:Eml6	UTSW	11	29,704,910 (GRCm39)	missense	probably damaging	1.00
R8425:Eml6	UTSW	11	29,705,008 (GRCm39)	missense	probably benign	0.00
R8799:Eml6	UTSW	11	29,708,981 (GRCm39)	missense	probably benign	0.11
R8945:Eml6	UTSW	11	29,703,110 (GRCm39)	missense	probably damaging	0.98
R8977:Eml6	UTSW	11	29,734,182 (GRCm39)	missense	possibly damaging	0.59
R8986:Eml6	UTSW	11	29,755,181 (GRCm39)	missense	possibly damaging	0.92
R9088:Eml6	UTSW	11	29,768,424 (GRCm39)	missense	probably damaging	0.96
R9150:Eml6	UTSW	11	29,755,791 (GRCm39)	missense	probably benign	0.15
R9209:Eml6	UTSW	11	29,781,175 (GRCm39)	missense	probably damaging	1.00
R9288:Eml6	UTSW	11	29,788,641 (GRCm39)	critical splice acceptor site	probably null
R9467:Eml6	UTSW	11	29,769,076 (GRCm39)	missense	probably damaging	0.99
R9481:Eml6	UTSW	11	29,788,641 (GRCm39)	critical splice acceptor site	probably null
R9534:Eml6	UTSW	11	29,734,155 (GRCm39)	missense	possibly damaging	0.45
RF037:Eml6	UTSW	11	29,702,549 (GRCm39)	critical splice acceptor site	probably benign
RF039:Eml6	UTSW	11	29,702,551 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCATGTTCTATGTGAGACAGG -3'
(R):5'- CTGGGTGAAGAGATTAGAACTTGC -3'

Sequencing Primer
(F):5'- TCTGGAGAAGAGGTAAGAAAATCCAC -3'
(R):5'- CTGTTTTAGCAGGGAAGC -3'

Posted On

2019-06-26