Mutagenetix > Incidental Mutation

Incidental Mutation 'R6395:Eml6'

514733

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

Accession Numbers

Essential gene?

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

Stock #

R6395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29693048-29976033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29759321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 811 (T811A)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

probably benign
Transcript: ENSMUST00000058902
AA Change: T811A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: T811A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109452

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	C	A	2: 113,879,731 (GRCm39)	E243*	probably null	Het
Ahi1	T	C	10: 20,855,491 (GRCm39)	I600T	possibly damaging	Het
Apob	A	G	12: 8,058,507 (GRCm39)	T2330A	probably benign	Het
Cabin1	A	T	10: 75,582,576 (GRCm39)	M280K	probably benign	Het
Ccdc117	T	C	11: 5,484,762 (GRCm39)		probably null	Het
Cct8	G	T	16: 87,283,364 (GRCm39)	Y292*	probably null	Het
Celf1	A	G	2: 90,834,203 (GRCm39)	I165V	probably benign	Het
Cenpc1	A	T	5: 86,183,429 (GRCm39)	N453K	probably benign	Het
Chst10	T	C	1: 38,910,770 (GRCm39)	I131M	probably damaging	Het
Cltc	A	G	11: 86,616,006 (GRCm39)	I420T	probably damaging	Het
Cspg4b	T	G	13: 113,506,003 (GRCm39)	C2377W	probably damaging	Het
Dact3	A	C	7: 16,617,086 (GRCm39)	Q95P	probably damaging	Het
Dennd2c	T	C	3: 103,056,540 (GRCm39)		probably null	Het
Dock2	G	T	11: 34,182,874 (GRCm39)	H1586Q	probably damaging	Het
Dst	T	C	1: 34,221,771 (GRCm39)	M2525T	probably benign	Het
Egflam	T	C	15: 7,261,176 (GRCm39)	H786R	probably damaging	Het
Epha1	T	C	6: 42,343,106 (GRCm39)	T148A	probably damaging	Het
Fsip1	A	C	2: 118,067,406 (GRCm39)	S306A	probably damaging	Het
Gga2	A	T	7: 121,607,661 (GRCm39)		probably null	Het
Gm10801	C	CGTT	2: 98,494,152 (GRCm39)		probably benign	Het
Gm9837	T	A	11: 53,360,885 (GRCm39)		probably benign	Het
Gnl2	A	T	4: 124,940,058 (GRCm39)	Q310L	probably damaging	Het
H2-M1	T	C	17: 36,982,701 (GRCm39)	D53G	probably benign	Het
Hmcn2	T	A	2: 31,259,269 (GRCm39)	D1036E	probably damaging	Het
Htr3a	A	T	9: 48,811,871 (GRCm39)	D381E	probably benign	Het
Igdcc4	G	A	9: 65,042,400 (GRCm39)	G106R	probably damaging	Het
Igfbp2	A	G	1: 72,864,078 (GRCm39)	T114A	probably damaging	Het
Ints14	A	G	9: 64,885,406 (GRCm39)		probably null	Het
Kcnt1	T	A	2: 25,799,251 (GRCm39)	M906K	possibly damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lars2	A	G	9: 123,200,990 (GRCm39)	Q18R	probably benign	Het
Mndal	C	T	1: 173,698,999 (GRCm39)	C222Y	possibly damaging	Het
Msto1	C	T	3: 88,812,781 (GRCm39)	A1854V	possibly damaging	Het
Musk	G	A	4: 58,286,169 (GRCm39)	G20R	probably benign	Het
Or6c215	G	T	10: 129,638,013 (GRCm39)	P127Q	probably damaging	Het
Oxct1	G	T	15: 4,056,309 (GRCm39)	S19I	possibly damaging	Het
Papss2	G	A	19: 32,641,876 (GRCm39)	G517D	probably damaging	Het
Parp14	T	C	16: 35,676,918 (GRCm39)	S1017G	probably benign	Het
Pde2a	A	G	7: 101,150,242 (GRCm39)	Q227R	probably benign	Het
Pdlim5	G	T	3: 142,020,183 (GRCm39)	P92Q	probably damaging	Het
Pkd1l3	C	T	8: 110,350,595 (GRCm39)	T480I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Ppp3ca	A	G	3: 136,583,531 (GRCm39)	R213G	possibly damaging	Het
Pramel18	G	A	4: 101,767,189 (GRCm39)	R146H	probably benign	Het
Prrc1	C	T	18: 57,495,619 (GRCm39)	S32L	probably null	Het
Prss47	C	T	13: 65,197,116 (GRCm39)	V207I	probably benign	Het
Prtg	G	A	9: 72,819,414 (GRCm39)	V1136I	possibly damaging	Het
Psmb8	T	A	17: 34,418,265 (GRCm39)	M69K	possibly damaging	Het
Rb1	A	T	14: 73,436,636 (GRCm39)	D876E	probably damaging	Het
Rnasel	T	C	1: 153,637,867 (GRCm39)	M680T	probably damaging	Het
Rnf111	G	T	9: 70,383,692 (GRCm39)	N80K	possibly damaging	Het
Senp1	C	T	15: 97,946,074 (GRCm39)	C557Y	probably damaging	Het
Serpina3a	A	T	12: 104,082,710 (GRCm39)	Y161F	probably damaging	Het
Serpinb11	A	T	1: 107,299,781 (GRCm39)		probably null	Het
Sgpl1	C	A	10: 60,947,936 (GRCm39)		probably null	Het
Slc37a4	A	G	9: 44,310,576 (GRCm39)	Y60C	probably damaging	Het
Slc38a10	A	G	11: 120,015,208 (GRCm39)	S381P	probably benign	Het
Slc5a7	C	T	17: 54,585,849 (GRCm39)	V323I	probably damaging	Het
Slco1a7	T	A	6: 141,668,818 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,655,716 (GRCm39)	E665V	possibly damaging	Het
Specc1	C	A	11: 62,023,164 (GRCm39)	N736K	probably damaging	Het
Tas2r121	T	C	6: 132,677,495 (GRCm39)	Y159C	probably benign	Het
Tex54	A	G	19: 8,718,462 (GRCm39)	D68G	probably benign	Het
Trank1	A	G	9: 111,196,268 (GRCm39)	I1431V	probably damaging	Het
Ttll6	T	C	11: 96,047,414 (GRCm39)	V671A	probably benign	Het
Ttn	A	T	2: 76,748,931 (GRCm39)		probably benign	Het
Uimc1	T	C	13: 55,188,389 (GRCm39)	T557A	possibly damaging	Het
Uri1	C	A	7: 37,661,974 (GRCm39)	V446L	probably benign	Het
Vpreb1b	C	T	16: 17,798,771 (GRCm39)	R86C	probably damaging	Het
Vwa8	A	G	14: 79,331,184 (GRCm39)	K1231E	probably benign	Het
Xcr1	G	A	9: 123,684,854 (GRCm39)	R303C	probably damaging	Het
Zfp619	C	A	7: 39,186,454 (GRCm39)	A828E	possibly damaging	Het
Zfp687	T	C	3: 94,915,049 (GRCm39)	S1151G	possibly 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
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'- TTGGCACTGTGAAAGGGAGC -3'
(R):5'- GTGAATTCAGAACCTTTCCTATCG -3'

Sequencing Primer
(F):5'- AGGGAGCAGTATGTGTTCAC -3'
(R):5'- AGAACCTTTCCTATCGTTACTCACAG -3'

Posted On

2018-05-04