Mutagenetix > Incidental Mutations

Incidental Mutation 'R2520:Eml6'

254392

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

MMRRC Submission

040424-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29743048-30026033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29791993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1130 (H1130R)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058902
AA Change: H1130R

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

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: H1130R

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,575,773	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,650,506	R216W	probably damaging	Het
Abcb9	C	T	5: 124,080,028		probably null	Het
Arhgdia	A	T	11: 120,580,026	V72E	probably damaging	Het
Arsb	A	T	13: 93,940,699	K525*	probably null	Het
Bckdha	A	C	7: 25,641,699	I79S	probably benign	Het
Carm1	G	A	9: 21,583,597		probably null	Het
Cers5	G	A	15: 99,736,381	T362I	probably damaging	Het
Clec4b2	T	A	6: 123,200,983	F86I	probably damaging	Het
Crispld1	G	A	1: 17,750,776	D347N	probably damaging	Het
Csf3r	A	T	4: 126,035,352	T352S	probably benign	Het
Daam2	G	A	17: 49,480,757	Q443*	probably null	Het
Dcbld1	A	G	10: 52,319,545	D283G	probably damaging	Het
Dpp9	T	C	17: 56,206,868	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,689,006	D42G	probably null	Het
Enox1	A	T	14: 77,582,399	Y198F	probably damaging	Het
Epop	A	G	11: 97,628,728	L185P	probably benign	Het
Frem1	A	T	4: 82,950,290	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,265,367	S571T	probably benign	Het
Gm5965	A	T	16: 88,778,526	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642	I8L	possibly damaging	Het
Gria2	A	C	3: 80,706,962	N590K	probably damaging	Het
Hectd2	T	A	19: 36,612,233		probably null	Het
Hmcn1	T	A	1: 150,743,647	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,029,030	D167E	probably damaging	Het
Htr1a	A	G	13: 105,445,373	S374G	probably benign	Het
Il16	C	T	7: 83,651,994	G307S	probably benign	Het
Ipmk	T	C	10: 71,381,217	F198S	probably damaging	Het
Lyz2	T	A	10: 117,278,653	I124F	probably damaging	Het
Maea	T	C	5: 33,358,510	V47A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgpra1	A	T	7: 47,335,272	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,297,649	K1595*	probably null	Het
Naga	G	T	15: 82,330,094	D405E	probably benign	Het
Nanog	T	A	6: 122,713,459	N249K	probably benign	Het
Nhlh1	G	T	1: 172,054,003	R99S	probably damaging	Het
Ntrk2	T	A	13: 59,054,276		probably null	Het
Nudt2	A	G	4: 41,480,354	E79G	probably benign	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1368	A	T	13: 21,142,576	C160*	probably null	Het
Olfr666	T	A	7: 104,892,873	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,129,401	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,238,583	V53A	probably damaging	Het
Psmd2	T	G	16: 20,663,076	V853G	probably damaging	Het
Pycard	A	G	7: 127,993,505	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf168	T	A	16: 32,278,403	S99T	probably benign	Het
Rph3al	A	G	11: 75,906,547	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,085,771	A979T	probably benign	Het
Sec16a	G	A	2: 26,441,356	Q216*	probably null	Het
Slc35f3	T	A	8: 126,394,573	V391E	possibly damaging	Het
Slf1	T	A	13: 77,051,265	I666F	probably damaging	Het
Slfn14	A	G	11: 83,276,187	V834A	probably damaging	Het
Tab2	G	A	10: 7,907,481	P679L	probably damaging	Het
Tbc1d10b	A	G	7: 127,200,283		probably null	Het
Tmeff1	T	A	4: 48,604,679	C91S	probably damaging	Het
Tmem108	G	T	9: 103,489,282	N503K	possibly damaging	Het
Trbv29	A	G	6: 41,271,607	T24A	probably damaging	Het
Trim34b	A	G	7: 104,331,239	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,453,945	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,216,370	I153V	probably benign	Het
Ttll13	T	C	7: 80,250,216	V101A	probably damaging	Het
Ubash3b	A	T	9: 41,014,947	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,796,443		probably null	Het
Usp48	A	G	4: 137,625,251	S94G	probably benign	Het
Wdr86	T	C	5: 24,712,575	*381W	probably null	Het
Wdr90	G	A	17: 25,855,352	P680S	probably damaging	Het
Zbtb22	G	A	17: 33,916,982	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,359,896		probably null	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,589,502	V295A	probably damaging	Het
Zfp608	A	T	18: 54,988,506	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,546,662	D32E	possibly damaging	Het

Other mutations in Eml6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Eml6	APN	11	29850816	critical splice donor site	probably null
IGL01407:Eml6	APN	11	29755021	nonsense	probably null
IGL01434:Eml6	APN	11	29819090	missense	probably damaging	1.00
IGL01578:Eml6	APN	11	29850870	missense	probably benign	0.02
IGL01780:Eml6	APN	11	29805175	missense	probably benign	0.17
IGL01821:Eml6	APN	11	29821699	missense	probably benign	0.00
IGL01837:Eml6	APN	11	29777055	missense	probably benign	0.00
IGL01904:Eml6	APN	11	29838613	nonsense	probably null
IGL01972:Eml6	APN	11	29838451	missense	possibly damaging	0.67
IGL02134:Eml6	APN	11	29759066	missense	probably benign	0.13
IGL02192:Eml6	APN	11	29805743	missense	probably benign	0.00
IGL02377:Eml6	APN	11	29777282	missense	probably damaging	0.98
IGL02584:Eml6	APN	11	29749387	missense	probably damaging	0.99
IGL02587:Eml6	APN	11	29784236	missense	possibly damaging	0.92
IGL02810:Eml6	APN	11	29849016	missense	possibly damaging	0.94
IGL02873:Eml6	APN	11	29880700	missense	probably benign	0.10
IGL02880:Eml6	APN	11	29749959	missense	probably benign	0.03
IGL03289:Eml6	APN	11	29795328	missense	possibly damaging	0.49
IGL03301:Eml6	APN	11	29764083	missense	probably benign	0.18
IGL03386:Eml6	APN	11	29749934	missense	probably benign
IGL03407:Eml6	APN	11	29906330	missense	probably damaging	1.00
PIT4453001:Eml6	UTSW	11	29802489	missense	probably damaging	1.00
R0125:Eml6	UTSW	11	29882088	missense	probably benign	0.19
R0240:Eml6	UTSW	11	29792367	missense	possibly damaging	0.84
R0240:Eml6	UTSW	11	29792367	missense	possibly damaging	0.84
R0271:Eml6	UTSW	11	29848949	missense	possibly damaging	0.48
R0304:Eml6	UTSW	11	29777441	missense	probably benign	0.00
R0415:Eml6	UTSW	11	29749392	missense	possibly damaging	0.84
R0449:Eml6	UTSW	11	29893213	missense	probably benign	0.01
R0538:Eml6	UTSW	11	29760010	splice site	probably benign
R0671:Eml6	UTSW	11	29805065	missense	probably benign	0.00
R0766:Eml6	UTSW	11	29831219	splice site	probably benign
R0800:Eml6	UTSW	11	29749877	missense	probably benign	0.08
R0841:Eml6	UTSW	11	29777430	missense	probably benign	0.41
R0879:Eml6	UTSW	11	29850816	critical splice donor site	probably null
R1061:Eml6	UTSW	11	29777267	missense	probably damaging	1.00
R1145:Eml6	UTSW	11	29777430	missense	probably benign	0.41
R1145:Eml6	UTSW	11	29777430	missense	probably benign	0.41
R1172:Eml6	UTSW	11	29749824	missense	possibly damaging	0.54
R1173:Eml6	UTSW	11	29749824	missense	possibly damaging	0.54
R1174:Eml6	UTSW	11	29749824	missense	possibly damaging	0.54
R1199:Eml6	UTSW	11	29755044	missense	possibly damaging	0.93
R1311:Eml6	UTSW	11	29831088	splice site	probably benign
R1312:Eml6	UTSW	11	29831219	splice site	probably benign
R1355:Eml6	UTSW	11	29833085	missense	probably benign	0.03
R1370:Eml6	UTSW	11	29833085	missense	probably benign	0.03
R1457:Eml6	UTSW	11	30024459	missense	probably damaging	1.00
R1486:Eml6	UTSW	11	29805114	missense	possibly damaging	0.83
R1511:Eml6	UTSW	11	29818374	missense	probably damaging	1.00
R1532:Eml6	UTSW	11	29792256	splice site	probably null
R1642:Eml6	UTSW	11	29777001	critical splice donor site	probably null
R1682:Eml6	UTSW	11	29759065	missense	probably benign	0.13
R1687:Eml6	UTSW	11	29833187	missense	probably damaging	1.00
R1699:Eml6	UTSW	11	29746282	nonsense	probably null
R1796:Eml6	UTSW	11	29881975	missense	probably benign	0.19
R1797:Eml6	UTSW	11	29882041	missense	probably benign	0.09
R1837:Eml6	UTSW	11	29749802	splice site	probably null
R1874:Eml6	UTSW	11	29831136	missense	probably damaging	0.99
R1967:Eml6	UTSW	11	30024545	missense	probably damaging	1.00
R1969:Eml6	UTSW	11	29833075	missense	probably benign
R2007:Eml6	UTSW	11	29848814	critical splice donor site	probably null
R2012:Eml6	UTSW	11	29831128	missense	possibly damaging	0.85
R2198:Eml6	UTSW	11	29850935	missense	probably benign	0.01
R2217:Eml6	UTSW	11	29818907	missense	probably damaging	1.00
R2218:Eml6	UTSW	11	29818907	missense	probably damaging	1.00
R2403:Eml6	UTSW	11	29802434	missense	probably benign	0.05
R2937:Eml6	UTSW	11	29833049	splice site	probably benign
R2938:Eml6	UTSW	11	29833049	splice site	probably benign
R3085:Eml6	UTSW	11	29809332	missense	probably damaging	0.96
R3236:Eml6	UTSW	11	29831097	critical splice donor site	probably null
R3738:Eml6	UTSW	11	29803137	missense	probably benign	0.20
R3739:Eml6	UTSW	11	29803137	missense	probably benign	0.20
R3752:Eml6	UTSW	11	29809360	missense	probably benign	0.06
R3854:Eml6	UTSW	11	29749905	missense	possibly damaging	0.76
R3941:Eml6	UTSW	11	29803167	missense	probably damaging	0.98
R4034:Eml6	UTSW	11	29803137	missense	probably benign	0.20
R4049:Eml6	UTSW	11	29838577	missense	probably damaging	1.00
R4108:Eml6	UTSW	11	29805136	missense	probably damaging	0.98
R4657:Eml6	UTSW	11	29805108	missense	possibly damaging	0.77
R4662:Eml6	UTSW	11	29777390	missense	probably damaging	1.00
R4665:Eml6	UTSW	11	29819007	nonsense	probably null
R4721:Eml6	UTSW	11	29838525	missense	possibly damaging	0.95
R4729:Eml6	UTSW	11	29833204	missense	probably damaging	1.00
R4766:Eml6	UTSW	11	29805757	missense	probably benign	0.22
R4810:Eml6	UTSW	11	29755011	missense	possibly damaging	0.92
R4831:Eml6	UTSW	11	29777052	nonsense	probably null
R5035:Eml6	UTSW	11	29854187	missense	probably benign	0.00
R5064:Eml6	UTSW	11	29749300	missense	probably benign	0.12
R5103:Eml6	UTSW	11	29850905	missense	possibly damaging	0.65
R5121:Eml6	UTSW	11	29744606	missense	probably benign	0.03
R5161:Eml6	UTSW	11	30024467	missense	probably damaging	0.99
R5211:Eml6	UTSW	11	29854145	missense	probably benign	0.02
R5268:Eml6	UTSW	11	29803108	missense	probably benign	0.15
R5390:Eml6	UTSW	11	29760096	missense	probably damaging	1.00
R5529:Eml6	UTSW	11	29764126	missense	probably benign	0.04
R6239:Eml6	UTSW	11	29749275	missense	probably damaging	1.00
R6326:Eml6	UTSW	11	29819066	missense	probably damaging	1.00
R6395:Eml6	UTSW	11	29809321	missense	probably benign	0.00
R6476:Eml6	UTSW	11	29791971	critical splice donor site	probably null
R6483:Eml6	UTSW	11	29749875	missense	probably benign	0.00
R6701:Eml6	UTSW	11	29785748	missense	probably damaging	0.98
R6753:Eml6	UTSW	11	29754987	missense	probably damaging	1.00
R6809:Eml6	UTSW	11	29803161	missense	probably benign	0.23
R6847:Eml6	UTSW	11	29818447	missense	probably benign	0.00
R6855:Eml6	UTSW	11	29751381	splice site	probably null
R7168:Eml6	UTSW	11	29838529	missense	probably benign	0.01
R7175:Eml6	UTSW	11	29784231	missense	probably benign	0.00
R7305:Eml6	UTSW	11	29777258	missense	probably benign	0.01
R7615:Eml6	UTSW	11	29802501	missense	possibly damaging	0.49
R7692:Eml6	UTSW	11	29753085	missense	probably damaging	0.98
R7980:Eml6	UTSW	11	29833205	missense	probably damaging	1.00
R8026:Eml6	UTSW	11	29749973	missense	possibly damaging	0.63
R8046:Eml6	UTSW	11	29758981	missense	probably damaging	0.99
R8049:Eml6	UTSW	11	29893201	missense	possibly damaging	0.95
R8114:Eml6	UTSW	11	29754910	missense	probably damaging	1.00
R8425:Eml6	UTSW	11	29755008	missense	probably benign	0.00
R8799:Eml6	UTSW	11	29758981	missense	probably benign	0.11
R8945:Eml6	UTSW	11	29753110	missense	probably damaging	0.98
R8977:Eml6	UTSW	11	29784182	missense	possibly damaging	0.59
R8986:Eml6	UTSW	11	29805181	missense	possibly damaging	0.92
R9088:Eml6	UTSW	11	29818424	missense	probably damaging	0.96
R9150:Eml6	UTSW	11	29805791	missense	probably benign	0.15
R9209:Eml6	UTSW	11	29831175	missense	probably damaging	1.00
R9288:Eml6	UTSW	11	29838641	critical splice acceptor site	probably null
R9467:Eml6	UTSW	11	29819076	missense	probably damaging	0.99
RF037:Eml6	UTSW	11	29752549	critical splice acceptor site	probably benign
RF039:Eml6	UTSW	11	29752551	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCAACGTACCACAGGCTTTC -3'
(R):5'- CCACCTCAAAATCTTATGTTCCTGG -3'

Sequencing Primer
(F):5'- CTTGATCTTAAGCCACAGTGAC -3'
(R):5'- CTCAAAATCTTATGTTCCTGGAGGTG -3'

Posted On

2014-12-04