Mutagenetix > Incidental Mutation

Incidental Mutation 'R4729:Eml6'

358700

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

MMRRC Submission

041603-MU

Accession Numbers

Essential gene?

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

Stock #

R4729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29693048-29976033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29783204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 559 (Y559F)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058902
AA Change: Y559F

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

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: Y559F

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: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,187 (GRCm39)	L220H	unknown	Het
Amt	T	A	9: 108,177,851 (GRCm39)	L272Q	probably damaging	Het
Ank2	G	C	3: 126,770,545 (GRCm39)	Y894*	probably null	Het
Ankzf1	T	A	1: 75,170,908 (GRCm39)	F105I	probably damaging	Het
Aox4	C	A	1: 58,298,236 (GRCm39)	Y1067*	probably null	Het
BC034090	T	A	1: 155,100,836 (GRCm39)	Q476L	probably damaging	Het
Bhmt	G	T	13: 93,763,871 (GRCm39)	R57S	probably damaging	Het
Cacna1c	A	T	6: 118,633,136 (GRCm39)	F964L	probably damaging	Het
Celsr3	A	C	9: 108,724,851 (GRCm39)	S396R	probably benign	Het
Cpne4	C	A	9: 104,799,755 (GRCm39)	Q191K	probably damaging	Het
Csnk1g2	T	C	10: 80,475,038 (GRCm39)	Y352H	probably benign	Het
D630003M21Rik	A	G	2: 158,058,623 (GRCm39)	S426P	probably damaging	Het
Dennd10	T	A	19: 60,823,309 (GRCm39)	F315I	probably benign	Het
Dido1	G	T	2: 180,329,443 (GRCm39)	N326K	probably benign	Het
E2f2	T	A	4: 135,911,760 (GRCm39)	I257N	probably damaging	Het
Elfn1	T	G	5: 139,959,413 (GRCm39)	F806V	probably damaging	Het
Erich6	A	G	3: 58,543,480 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,617 (GRCm39)	N101S	probably damaging	Het
Fam83h	A	G	15: 75,874,185 (GRCm39)	S1051P	probably benign	Het
Galns	C	T	8: 123,330,195 (GRCm39)	G112D	probably damaging	Het
Gm9923	A	G	10: 72,145,524 (GRCm39)	K125R	probably damaging	Het
Hectd3	G	A	4: 116,854,415 (GRCm39)	V326M	probably damaging	Het
Iars2	A	G	1: 185,048,248 (GRCm39)	S495P	possibly damaging	Het
Ice1	T	C	13: 70,754,503 (GRCm39)	R528G	probably damaging	Het
Igkv12-38	T	A	6: 69,920,368 (GRCm39)	Y50F	possibly damaging	Het
Inpp5j	T	C	11: 3,445,025 (GRCm39)	S883G	probably damaging	Het
Irf8	T	C	8: 121,480,178 (GRCm39)	S139P	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Kcnq4	G	T	4: 120,570,271 (GRCm39)	D357E	possibly damaging	Het
Klhl1	A	G	14: 96,517,584 (GRCm39)	L364P	probably damaging	Het
Krt7	A	G	15: 101,318,439 (GRCm39)	I309V	probably benign	Het
Krt76	G	T	15: 101,797,516 (GRCm39)	A281D	probably damaging	Het
Lancl2	T	C	6: 57,714,697 (GRCm39)	F430L	probably damaging	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc26	A	T	2: 25,180,076 (GRCm39)	T26S	probably benign	Het
Lrrk1	T	A	7: 65,912,041 (GRCm39)	M1840L	probably benign	Het
Lyst	G	A	13: 13,812,486 (GRCm39)	C966Y	probably damaging	Het
Mad1l1	T	A	5: 140,247,266 (GRCm39)	S354C	possibly damaging	Het
Mbtps1	C	T	8: 120,252,159 (GRCm39)	G577D	probably damaging	Het
Mycbp2	C	T	14: 103,426,027 (GRCm39)	R2366H	probably damaging	Het
Myo18a	T	G	11: 77,668,511 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,639 (GRCm39)	R866C	possibly damaging	Het
Nav2	T	A	7: 49,102,567 (GRCm39)	V455E	probably benign	Het
Neb	A	G	2: 52,153,674 (GRCm39)	I2417T	possibly damaging	Het
Nme5	C	T	18: 34,702,890 (GRCm39)	A133T	probably benign	Het
Nradd	T	C	9: 110,450,979 (GRCm39)	D51G	possibly damaging	Het
Pard3b	A	G	1: 62,250,843 (GRCm39)	R591G	probably damaging	Het
Pcbp4	T	C	9: 106,337,929 (GRCm39)	F73S	probably damaging	Het
Pcdhb11	C	T	18: 37,555,419 (GRCm39)	Q250*	probably null	Het
Pde1c	T	A	6: 56,049,194 (GRCm39)	K766N	probably damaging	Het
Phf21b	G	A	15: 84,738,942 (GRCm39)	Q40*	probably null	Het
Prr14	A	G	7: 127,073,868 (GRCm39)	D244G	probably benign	Het
Rab11fip5	C	T	6: 85,351,249 (GRCm39)	A88T	probably damaging	Het
Rad54l2	A	T	9: 106,593,317 (GRCm39)	S428T	probably benign	Het
Rdh9	A	G	10: 127,612,621 (GRCm39)	I90V	probably benign	Het
Rhag	G	T	17: 41,139,292 (GRCm39)	G76C	probably damaging	Het
Riok3	T	A	18: 12,261,984 (GRCm39)	V6E	possibly damaging	Het
Rnf7l	A	T	10: 63,257,244 (GRCm39)	V92E	probably damaging	Het
Scn10a	A	G	9: 119,500,592 (GRCm39)	I229T	probably damaging	Het
Slco1a1	G	T	6: 141,854,695 (GRCm39)	T652K	probably benign	Het
Slit1	T	A	19: 41,635,459 (GRCm39)	I345F	probably damaging	Het
Snrnp200	A	T	2: 127,074,857 (GRCm39)	I1477F	probably damaging	Het
Snx31	G	A	15: 36,523,698 (GRCm39)	T328I	possibly damaging	Het
Strn	A	G	17: 78,965,390 (GRCm39)	F634S	probably damaging	Het
Tmem101	C	T	11: 102,047,155 (GRCm39)	G6R	probably benign	Het
Tmem199	C	G	11: 78,399,506 (GRCm39)	G131R	probably benign	Het
Trim66	A	G	7: 109,055,267 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,681,929 (GRCm39)		probably benign	Het
Upk3bl	T	C	5: 136,086,247 (GRCm39)	L61P	probably benign	Het
Vmn2r108	A	G	17: 20,692,632 (GRCm39)	Y75H	probably damaging	Het
Vmn2r91	T	A	17: 18,327,906 (GRCm39)	I500K	probably damaging	Het
Vps18	C	T	2: 119,124,272 (GRCm39)	R400C	probably damaging	Het
Zeb1	C	T	18: 5,767,286 (GRCm39)	P599L	probably damaging	Het
Zfhx4	G	T	3: 5,464,557 (GRCm39)	A1572S	probably damaging	Het
Zfp677	T	A	17: 21,617,680 (GRCm39)	C246S	possibly damaging	Het
Zfp719	T	A	7: 43,239,834 (GRCm39)	I474N	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
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'- AGGTTCCGACTGCTGTTTAC -3'
(R):5'- ACATTGAAGCTGTGTGCATTGG -3'

Sequencing Primer
(F):5'- CGACTGCTGTTTACCCTGGG -3'
(R):5'- CCGTAGAGCTTGAATTTGAAAGACAC -3'

Posted On

2015-11-11