Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Eml6'

558559

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

MMRRC Submission

045231-MU

Accession Numbers

Essential gene?

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

Stock #

R7175 (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 29734231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1170 (I1170L)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

probably benign
Transcript: ENSMUST00000058902
AA Change: I1170L

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

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: I1170L

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

0.0588

Coding Region Coverage

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

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,831,611 (GRCm39)	T1247I	probably benign	Het
Afdn	T	C	17: 14,108,869 (GRCm39)	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,210,534 (GRCm39)	R363G	probably damaging	Het
Ank2	A	T	3: 126,740,590 (GRCm39)	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268 (GRCm39)		probably null	Het
Apob	A	C	12: 8,057,034 (GRCm39)	I1839L	probably benign	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Ccs	T	A	19: 4,883,390 (GRCm39)	D136V	probably damaging	Het
Cd200	T	C	16: 45,220,578 (GRCm39)		probably null	Het
Cirbp	T	C	10: 80,006,297 (GRCm39)	S130P	probably benign	Het
Cpb1	A	G	3: 20,317,927 (GRCm39)	I199T	probably benign	Het
Csn3	C	T	5: 88,077,586 (GRCm39)	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,735,775 (GRCm39)	I908F	probably benign	Het
Dhcr7	C	T	7: 143,399,227 (GRCm39)	T199I	probably damaging	Het
Dnah9	T	A	11: 66,024,463 (GRCm39)	Q277L	probably benign	Het
Echdc2	C	A	4: 108,031,366 (GRCm39)	P237T	probably damaging	Het
Efcab3	T	C	11: 104,838,237 (GRCm39)	V3625A	unknown	Het
Eif4g3	A	G	4: 137,853,526 (GRCm39)	N364S	probably damaging	Het
Epha3	C	T	16: 63,403,863 (GRCm39)	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,363,794 (GRCm39)	C102Y	probably damaging	Het
Fam91a1	A	T	15: 58,302,527 (GRCm39)	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,648,544 (GRCm39)	F665V	probably benign	Het
Fcrl5	T	C	3: 87,353,645 (GRCm39)	V330A	probably benign	Het
Fer	T	A	17: 64,231,090 (GRCm39)	D280E	probably benign	Het
Gpr158	A	G	2: 21,373,113 (GRCm39)	H16R	probably benign	Het
Gzmg	C	T	14: 56,396,979 (GRCm39)	M1I	probably null	Het
Hectd4	C	T	5: 121,411,692 (GRCm39)	A456V	possibly damaging	Het
Hk2	T	A	6: 82,711,830 (GRCm39)	Q613L	probably benign	Het
Inhca	A	G	9: 103,128,988 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,938 (GRCm39)	F1121L	unknown	Het
Lztr1	G	T	16: 17,340,895 (GRCm39)	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634 (GRCm39)	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,319,751 (GRCm39)	L248Q	probably damaging	Het
Or1a1	T	A	11: 74,087,004 (GRCm39)	L225*	probably null	Het
Or1p1b	T	C	11: 74,130,803 (GRCm39)	F138L	probably benign	Het
Or2g7	T	A	17: 38,378,370 (GRCm39)	S103T	probably damaging	Het
Or52e19	T	C	7: 102,959,054 (GRCm39)	V42A	probably benign	Het
Otulinl	A	C	15: 27,658,374 (GRCm39)	D165E	probably damaging	Het
Pate1	T	G	9: 35,596,408 (GRCm39)	D119A	probably damaging	Het
Pcdhgc4	T	C	18: 37,949,424 (GRCm39)	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,275,929 (GRCm39)	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473 (GRCm39)	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,862,802 (GRCm39)	N519K	probably benign	Het
Rergl	A	G	6: 139,473,533 (GRCm39)	V39A	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sema4b	T	A	7: 79,848,402 (GRCm39)	M1K	probably null	Het
Slc20a1	T	G	2: 129,052,662 (GRCm39)	L648R	probably damaging	Het
Spata31h1	T	A	10: 82,122,583 (GRCm39)	S3476C	probably damaging	Het
Speg	A	G	1: 75,399,134 (GRCm39)	T2194A	probably benign	Het
Spns1	T	C	7: 125,972,961 (GRCm39)	D215G	probably damaging	Het
Tle4	A	T	19: 14,429,071 (GRCm39)	V717E	probably damaging	Het
Trim50	T	A	5: 135,382,151 (GRCm39)	M1K	probably null	Het
Trpa1	A	G	1: 14,963,431 (GRCm39)	V597A	possibly damaging	Het
Usp13	C	T	3: 32,971,757 (GRCm39)	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,655,906 (GRCm39)	W255R	probably benign	Het
Vps35	A	T	8: 85,990,189 (GRCm39)		probably null	Het
Vps54	T	C	11: 21,265,028 (GRCm39)		probably null	Het
Zfp318	T	A	17: 46,697,774 (GRCm39)	L210Q	probably damaging	Het
Zfp319	C	A	8: 96,055,410 (GRCm39)	K264N	probably damaging	Het
Zfp62	C	T	11: 49,107,580 (GRCm39)	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,357,239 (GRCm39)	S822P	probably damaging	Het
Zxdc	A	G	6: 90,346,645 (GRCm39)	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,742,727 (GRCm39)	I769T	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
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
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'- TTCGGGTACAACAGATAATTAGGG -3'
(R):5'- GCAACTCAGGTTTTAGATACAATGC -3'

Sequencing Primer
(F):5'- CTAGCGGAACAGATGAAATCTATAAC -3'
(R):5'- TGTAATGTTCAAGGCCAGCC -3'

Posted On

2019-06-26