Mutagenetix > Incidental Mutation

Incidental Mutation 'R0449:Eml6'

39532

Institutional Source

Beutler Lab

Gene Symbol

Eml6

Ensembl Gene

ENSMUSG00000044072

Gene Name

echinoderm microtubule associated protein like 6

Synonyms

2900083P10Rik, C230094A16Rik

MMRRC Submission

038649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R0449 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

29693048-29976033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 29843213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 167 (V167G)

Ref Sequence

ENSEMBL: ENSMUSP00000051080 (fasta)

Gene Model

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

AlphaFold

Q5SQM0

Predicted Effect

probably benign
Transcript: ENSMUST00000058902
AA Change: V167G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: V167G

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,885 (GRCm39)	R813*	probably null	Het
Accsl	T	A	2: 93,696,419 (GRCm39)	I60F	probably benign	Het
Adam29	C	T	8: 56,325,716 (GRCm39)	G246D	probably benign	Het
Ankrd13c	A	G	3: 157,697,351 (GRCm39)	I319V	probably benign	Het
Bag6	T	G	17: 35,360,442 (GRCm39)	V327G	probably damaging	Het
Barhl1	C	T	2: 28,805,304 (GRCm39)	A130T	probably benign	Het
Bend4	T	C	5: 67,555,583 (GRCm39)	D541G	probably damaging	Het
Birc6	A	C	17: 74,999,290 (GRCm39)	T4673P	probably damaging	Het
Ccdc81	T	C	7: 89,539,679 (GRCm39)	R186G	probably damaging	Het
Cdyl2	A	G	8: 117,309,931 (GRCm39)	F342L	probably damaging	Het
Chd3	C	A	11: 69,248,367 (GRCm39)	V748L	probably damaging	Het
CN725425	G	T	15: 91,123,147 (GRCm39)	R72I	possibly damaging	Het
Col22a1	A	G	15: 71,834,520 (GRCm39)		probably null	Het
Cops3	A	G	11: 59,709,243 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,433,606 (GRCm39)	Q940K	possibly damaging	Het
Dtnb	C	T	12: 3,641,971 (GRCm39)	Q45*	probably null	Het
Efr3a	T	A	15: 65,714,553 (GRCm39)	I280K	probably damaging	Het
Fam83c	T	A	2: 155,672,215 (GRCm39)	M407L	probably benign	Het
Fasn	T	C	11: 120,701,894 (GRCm39)	T1862A	probably benign	Het
Fbxl6	A	G	15: 76,420,155 (GRCm39)	I486T	probably damaging	Het
Gpr182	A	G	10: 127,586,565 (GRCm39)	Y129H	probably damaging	Het
Gpr75	A	G	11: 30,842,456 (GRCm39)	S454G	probably damaging	Het
Hectd4	G	A	5: 121,502,653 (GRCm39)		probably null	Het
Hsf4	A	G	8: 106,002,222 (GRCm39)	T411A	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il4	A	T	11: 53,509,432 (GRCm39)	M1K	probably null	Het
Ints11	G	T	4: 155,972,405 (GRCm39)	R463L	probably benign	Het
Ints4	G	A	7: 97,178,430 (GRCm39)	E677K	probably damaging	Het
Klk1b11	G	A	7: 43,647,216 (GRCm39)	C50Y	probably damaging	Het
Krt14	C	A	11: 100,098,221 (GRCm39)	G21C	unknown	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lama3	A	G	18: 12,633,569 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,634,478 (GRCm39)	L1414P	probably damaging	Het
Matn2	T	C	15: 34,428,687 (GRCm39)	S684P	probably damaging	Het
Mga	T	A	2: 119,771,862 (GRCm39)	V1574D	probably damaging	Het
Mia2	T	C	12: 59,219,380 (GRCm39)		probably null	Het
Mrpl21	T	A	19: 3,342,459 (GRCm39)		probably benign	Het
Msh5	T	A	17: 35,260,458 (GRCm39)	Q266L	probably benign	Het
Mybpc1	C	A	10: 88,376,822 (GRCm39)	C758F	probably damaging	Het
Myo15a	G	A	11: 60,400,422 (GRCm39)	A2932T	possibly damaging	Het
Nbas	T	A	12: 13,569,109 (GRCm39)	I2021K	probably benign	Het
Neurl4	T	C	11: 69,796,393 (GRCm39)	S424P	probably damaging	Het
Or10j5	T	A	1: 172,784,965 (GRCm39)	V201E	probably damaging	Het
Or2w3	A	C	11: 58,556,789 (GRCm39)	I135L	probably benign	Het
Or6c6	A	G	10: 129,187,103 (GRCm39)	M224V	probably benign	Het
Or7g17	T	C	9: 18,767,945 (GRCm39)	M8T	probably benign	Het
Or7g32	T	A	9: 19,389,388 (GRCm39)	I53F	possibly damaging	Het
Phlpp1	C	T	1: 106,278,308 (GRCm39)	R907W	probably damaging	Het
Pigg	T	C	5: 108,484,277 (GRCm39)	V508A	probably benign	Het
Pkhd1l1	T	G	15: 44,364,915 (GRCm39)	Y685D	probably damaging	Het
Polr3a	A	T	14: 24,534,534 (GRCm39)	I34N	probably damaging	Het
Pramel17	T	C	4: 101,694,158 (GRCm39)	S242G	probably benign	Het
Prex1	A	G	2: 166,411,297 (GRCm39)	V1434A	probably benign	Het
Ptprh	T	A	7: 4,601,005 (GRCm39)	D124V	probably damaging	Het
Rad54b	T	A	4: 11,606,131 (GRCm39)	I513N	probably benign	Het
Rbm12b1	A	G	4: 12,145,507 (GRCm39)	N493S	probably benign	Het
Rfx7	A	T	9: 72,517,586 (GRCm39)		probably null	Het
Serpini1	A	G	3: 75,520,648 (GRCm39)	K82E	probably benign	Het
Slc27a6	T	G	18: 58,742,237 (GRCm39)		probably null	Het
Slc35f2	G	T	9: 53,724,201 (GRCm39)	L358F	probably damaging	Het
Slc45a1	A	C	4: 150,727,762 (GRCm39)	I158M	probably damaging	Het
Slurp2	G	A	15: 74,614,955 (GRCm39)	P62L	probably damaging	Het
Sspo	C	T	6: 48,443,674 (GRCm39)	H1949Y	probably damaging	Het
Tiam1	A	T	16: 89,634,715 (GRCm39)	V865E	possibly damaging	Het
Tlr4	A	C	4: 66,757,857 (GRCm39)	I217L	probably damaging	Het
Top1	C	T	2: 160,554,628 (GRCm39)	R460*	probably null	Het
Trpm3	T	A	19: 22,965,418 (GRCm39)	S1638T	probably benign	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Vars1	T	G	17: 35,231,703 (GRCm39)		probably null	Het
Xylt2	A	G	11: 94,557,159 (GRCm39)	Y111H	probably benign	Het
Zbed5	G	A	5: 129,930,567 (GRCm39)	G172D	probably damaging	Het
Zfp53	C	T	17: 21,729,095 (GRCm39)	T376I	probably benign	Het
Zfp937	G	T	2: 150,081,466 (GRCm39)	V499L	probably benign	Het
Zyx	T	A	6: 42,328,247 (GRCm39)	L152Q	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
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
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

Posted On

2013-05-23