Mutagenetix > Incidental Mutation

Incidental Mutation 'R9467:Eml6'

715224

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9467 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29693048-29976033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29769076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 690 (C690S)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000104962]

AlphaFold

Q5SQM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058902
AA Change: C690S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: C690S

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: ENSMUST00000104962

SMART Domains

Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157

Domain	Start	End	E-Value	Type
ANK	19	50	1.53e3	SMART
ANK	57	87	1.7e-3	SMART
ANK	99	128	3.6e-2	SMART
ANK	132	162	3.31e-1	SMART
ANK	166	195	8.19e-6	SMART
ANK	199	228	7.83e-3	SMART
ANK	231	260	1.8e-2	SMART
low complexity region	297	306	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
ANK	536	578	8.39e-3	SMART
ANK	582	611	3.91e-3	SMART

Predicted Effect

silent
Transcript: ENSMUST00000109452

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	C	2: 68,423,934 (GRCm39)	M46L		Het
Aars2	A	G	17: 45,827,410 (GRCm39)	E484G	probably benign	Het
Abcd2	C	T	15: 91,075,825 (GRCm39)		probably benign	Het
Acap2	A	G	16: 30,929,901 (GRCm39)	S361P	possibly damaging	Het
Arap2	T	C	5: 62,887,900 (GRCm39)	E482G	probably benign	Het
Axin2	G	T	11: 108,833,782 (GRCm39)	L576F	possibly damaging	Het
B4galt2	T	A	4: 117,738,123 (GRCm39)	Y161F	probably damaging	Het
Cdh3	A	T	8: 107,266,425 (GRCm39)		probably null	Het
Cfap61	A	T	2: 145,971,149 (GRCm39)	I920F	probably benign	Het
Chaf1b	T	C	16: 93,681,394 (GRCm39)	I4T	probably benign	Het
Clptm1	T	C	7: 19,371,449 (GRCm39)	N328S	probably benign	Het
Cthrc1	A	G	15: 38,947,689 (GRCm39)	N136S	probably benign	Het
Dlec1	G	T	9: 118,971,652 (GRCm39)	R1279L	probably damaging	Het
Dnah5	A	T	15: 28,366,293 (GRCm39)	T2669S	possibly damaging	Het
Efcab14	C	A	4: 115,610,208 (GRCm39)	L190I	probably damaging	Het
Fignl1	T	C	11: 11,751,483 (GRCm39)	E524G	probably damaging	Het
Fmo4	A	G	1: 162,631,238 (GRCm39)	V243A	probably benign	Het
Ghr	A	G	15: 3,357,506 (GRCm39)	V254A	probably benign	Het
Igkv8-28	A	G	6: 70,120,691 (GRCm39)	V84A	probably damaging	Het
Itgb7	T	C	15: 102,131,989 (GRCm39)	D198G	probably damaging	Het
Klra2	A	G	6: 131,197,070 (GRCm39)		probably null	Het
Klrc2	A	T	6: 129,633,363 (GRCm39)	Y230N	probably damaging	Het
Lacc1	A	G	14: 77,267,024 (GRCm39)	V413A	probably damaging	Het
Muc16	T	C	9: 18,508,331 (GRCm39)	N6355S	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ncor1	CTG	CTGGTG	11: 62,324,448 (GRCm39)		probably benign	Het
Ndn	A	G	7: 61,998,903 (GRCm39)	K250E	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5e	A	G	9: 88,249,416 (GRCm39)	E450G	probably benign	Het
Or4d6	A	T	19: 12,086,313 (GRCm39)	M199K	possibly damaging	Het
Or5p75-ps1	T	A	7: 108,107,790 (GRCm39)	*176K	probably null	Het
Or8k16	G	T	2: 85,520,626 (GRCm39)	M284I		Het
Palld	A	G	8: 61,968,264 (GRCm39)	S1343P	unknown	Het
Pcdha8	T	A	18: 37,126,843 (GRCm39)	S442T	possibly damaging	Het
Pole2	T	C	12: 69,255,719 (GRCm39)	I349V	probably benign	Het
Ptprb	C	T	10: 116,158,390 (GRCm39)	T487M	probably benign	Het
Ptprc	C	T	1: 137,993,960 (GRCm39)	D1020N	probably damaging	Het
Relch	C	T	1: 105,669,039 (GRCm39)	T1023I	probably damaging	Het
Rnf26rt	C	T	6: 76,473,615 (GRCm39)	E334K	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,571,490 (GRCm39)	N4916S	possibly damaging	Het
Selp	C	T	1: 163,957,674 (GRCm39)	P268S	probably damaging	Het
Sema7a	T	A	9: 57,864,608 (GRCm39)	C333S	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	CAGCCACGGGGACCAGCT	CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT	7: 126,066,754 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Shisa5	G	A	9: 108,867,712 (GRCm39)		probably benign	Het
Snx27	A	G	3: 94,489,723 (GRCm39)	V45A	possibly damaging	Het
Srcap	T	C	7: 127,139,531 (GRCm39)	V1284A	probably damaging	Het
Ssrp1	A	G	2: 84,872,610 (GRCm39)	D416G	probably damaging	Het
Tcstv1b	C	T	13: 120,634,061 (GRCm39)		probably benign	Het
Tectb	A	G	19: 55,181,093 (GRCm39)	Y144C		Het
Thap12	G	T	7: 98,359,348 (GRCm39)	V76F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Tsg101	A	G	7: 46,558,772 (GRCm39)	Y80H	probably benign	Het
Unc5cl	T	A	17: 48,770,656 (GRCm39)	M368K	probably damaging	Het
Utp20	G	T	10: 88,640,390 (GRCm39)	Q717K	possibly damaging	Het
Vmn1r159	T	A	7: 22,542,141 (GRCm39)	D297V	possibly damaging	Het
Vmn2r98	G	T	17: 19,287,517 (GRCm39)	S450I	probably benign	Het
Zbtb8b	T	C	4: 129,326,319 (GRCm39)	E282G	probably benign	Het
Zfp831	T	C	2: 174,486,789 (GRCm39)	V488A	probably benign	Het
Zng1	T	A	19: 24,930,684 (GRCm39)	M122L	possibly damaging	Het
Zzef1	G	A	11: 72,807,251 (GRCm39)	V2710I	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
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
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'- CATTGAGGAGAGACACATACCTG -3'
(R):5'- TGAACAAGGATTGCTTTTGGC -3'

Sequencing Primer
(F):5'- ATACCTGTCCAGTGGCTACATAG -3'
(R):5'- ACATAGATAGTAGTTGAAGGTCTGC -3'

Posted On

2022-06-15