Mutagenetix > Incidental Mutation

Incidental Mutation 'R2937:Eml6'

255083

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

MMRRC Submission

040514-MU

Accession Numbers

Essential gene?

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

Stock #

R2937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29693048-29976033 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 29783049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

probably benign
Transcript: ENSMUST00000058902

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,258,350 (GRCm39)	E481G	probably damaging	Het
Anks1b	C	T	10: 89,912,928 (GRCm39)	T351M	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Asph	A	C	4: 9,542,314 (GRCm39)		probably benign	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Cfap91	A	T	16: 38,131,400 (GRCm39)	I471N	possibly damaging	Het
Clca3a2	T	A	3: 144,519,679 (GRCm39)	T232S	probably benign	Het
Col1a2	G	A	6: 4,519,882 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Cpd	T	C	11: 76,702,685 (GRCm39)	N561S	probably damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,896,476 (GRCm39)		probably null	Het
Dsg2	T	C	18: 20,712,185 (GRCm39)	F107S	probably damaging	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Fermt2	A	C	14: 45,741,948 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Grtp1	G	A	8: 13,239,755 (GRCm39)		probably benign	Het
Hecw1	G	T	13: 14,420,421 (GRCm39)	Q1001K	possibly damaging	Het
Hydin	T	C	8: 111,130,927 (GRCm39)	V606A	possibly damaging	Het
Krt33b	T	A	11: 99,914,835 (GRCm39)	N388I	probably benign	Het
Lipf	T	C	19: 33,950,438 (GRCm39)	Y277H	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Med17	T	C	9: 15,187,187 (GRCm39)	K196E	probably damaging	Het
Mmp25	T	A	17: 23,863,765 (GRCm39)	I22F	probably benign	Het
Nrg3	T	A	14: 38,092,965 (GRCm39)	N540I	possibly damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Or52ad1	T	C	7: 102,995,272 (GRCm39)	M288V	probably benign	Het
Or52r1c	T	A	7: 102,735,548 (GRCm39)	H269Q	probably benign	Het
Pcdh1	G	T	18: 38,322,815 (GRCm39)	A1006E	probably benign	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Plaa	G	A	4: 94,457,696 (GRCm39)	A758V	probably damaging	Het
Prl6a1	T	A	13: 27,499,303 (GRCm39)	W24R	probably damaging	Het
Ptk7	T	C	17: 46,883,476 (GRCm39)	H863R	probably damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Rhou	T	C	8: 124,387,880 (GRCm39)	I204T	possibly damaging	Het
Serpind1	G	T	16: 17,154,972 (GRCm39)	M266I	probably benign	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Slc2a2	T	G	3: 28,772,920 (GRCm39)	C238G	probably damaging	Het
Slc39a8	A	G	3: 135,592,584 (GRCm39)	M420V	probably benign	Het
Slc7a9	C	A	7: 35,163,167 (GRCm39)	Y457*	probably null	Het
Smpd3	C	T	8: 106,991,452 (GRCm39)	R367H	probably damaging	Het
Sntb2	T	C	8: 107,662,729 (GRCm39)	V99A	probably benign	Het
Specc1l	T	G	10: 75,094,965 (GRCm39)	I796R	probably damaging	Het
Stfa2l1	G	T	16: 35,980,316 (GRCm39)	V29F	probably damaging	Het
Synrg	T	C	11: 83,885,180 (GRCm39)	F455S	probably damaging	Het
Tap2	T	C	17: 34,431,328 (GRCm39)	V422A	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tcp10a	A	G	17: 7,597,173 (GRCm39)	Y110C	probably damaging	Het
Thoc1	T	A	18: 9,959,255 (GRCm39)	S43R	probably damaging	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Trpc3	G	A	3: 36,688,532 (GRCm39)	R836*	probably null	Het
Tsbp1	A	T	17: 34,640,836 (GRCm39)	H57L	possibly damaging	Het
Ube2u	T	C	4: 100,381,495 (GRCm39)	S185P	possibly damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vcp	A	G	4: 42,980,846 (GRCm39)	Y755H	probably damaging	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdfy3	A	T	5: 102,091,988 (GRCm39)	F450L	probably benign	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Xylt1	C	A	7: 117,234,011 (GRCm39)	Q513K	probably benign	Het
Zfp229	T	C	17: 21,964,484 (GRCm39)	F238S	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
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
R7168:Eml6	UTSW	11	29,788,529 (GRCm39)	missense	probably benign	0.01
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'- TAGCTCCAGAACAGATACTAGGAG -3'
(R):5'- CCAAATTTAGAAAGTATGTGGGCC -3'

Sequencing Primer
(F):5'- CTTCTGGGTGTCTGAAAACAGCTAC -3'
(R):5'- AAAGTATGTGGGCCACTCTGC -3'

Posted On

2014-12-29