Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01904:Eml3'

179629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eml3

Ensembl Gene

ENSMUSG00000071647

Gene Name

echinoderm microtubule associated protein like 3

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

IGL01904

Quality Score

Status

Chromosome

Chromosomal Location

8906916-8918946 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8914130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096241] [ENSMUST00000224272] [ENSMUST00000224642]

AlphaFold

Q8VC03

Predicted Effect

probably benign
Transcript: ENSMUST00000096241

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647

Domain	Start	End	E-Value	Type
coiled coil region	12	47	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	118	139	N/A	INTRINSIC
low complexity region	149	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
Pfam:HELP	215	286	5.3e-30	PFAM
WD40	295	344	6.34e-2	SMART
Blast:WD40	347	392	5e-22	BLAST
WD40	395	434	1.56e-1	SMART
WD40	450	487	2.64e2	SMART
WD40	504	543	3.33e-1	SMART
WD40	587	626	2.69e-5	SMART
WD40	670	709	1.7e-2	SMART
WD40	716	755	1.52e-4	SMART
WD40	829	869	1.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224272

Predicted Effect

probably benign
Transcript: ENSMUST00000224642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226096

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnah5	T	C	15: 28,307,510 (GRCm39)	I1746T	probably benign	Het
Eml6	C	A	11: 29,788,613 (GRCm39)	E491*	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hs3st2	C	T	7: 121,100,207 (GRCm39)	P351L	probably damaging	Het
Igf2r	A	T	17: 12,933,798 (GRCm39)	Y819N	probably damaging	Het
Kifc3	C	A	8: 95,864,585 (GRCm39)	A42S	possibly damaging	Het
Mrps17	A	G	5: 129,793,865 (GRCm39)	T20A	probably damaging	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Or6b1	T	C	6: 42,815,223 (GRCm39)	M136T	possibly damaging	Het
Or7e176	T	G	9: 20,171,586 (GRCm39)	M150R	probably damaging	Het
Pappa2	A	G	1: 158,611,511 (GRCm39)	L1484P	probably damaging	Het
Polr3c	A	T	3: 96,623,981 (GRCm39)		probably null	Het
Ros1	C	A	10: 51,954,007 (GRCm39)	E1877D	probably damaging	Het
Slc5a4b	T	C	10: 75,896,260 (GRCm39)	N565S	probably damaging	Het
Slf2	T	C	19: 44,937,580 (GRCm39)		probably null	Het
Speer1m	A	C	5: 11,971,423 (GRCm39)	N125T	probably benign	Het
Suclg2	A	T	6: 95,565,915 (GRCm39)		probably benign	Het
Sult2a8	T	C	7: 14,159,382 (GRCm39)	E79G	probably damaging	Het
Triobp	A	G	15: 78,851,564 (GRCm39)	T573A	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfand5	C	T	19: 21,257,122 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,477,769 (GRCm39)	H3461Q	probably damaging	Het

Other mutations in Eml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Eml3	APN	19	8,913,762 (GRCm39)	nonsense	probably null
IGL01398:Eml3	APN	19	8,911,598 (GRCm39)	splice site	probably benign
IGL02557:Eml3	APN	19	8,908,745 (GRCm39)	unclassified	probably benign
IGL02795:Eml3	APN	19	8,911,142 (GRCm39)	missense	probably benign	0.43
IGL03160:Eml3	APN	19	8,912,319 (GRCm39)	missense	probably benign	0.04
IGL03172:Eml3	APN	19	8,916,543 (GRCm39)	unclassified	probably benign
IGL03376:Eml3	APN	19	8,911,154 (GRCm39)	missense	probably damaging	1.00
R0063:Eml3	UTSW	19	8,915,842 (GRCm39)	missense	probably damaging	1.00
R0063:Eml3	UTSW	19	8,915,842 (GRCm39)	missense	probably damaging	1.00
R0097:Eml3	UTSW	19	8,914,015 (GRCm39)	missense	probably benign	0.32
R0097:Eml3	UTSW	19	8,914,015 (GRCm39)	missense	probably benign	0.32
R0599:Eml3	UTSW	19	8,916,427 (GRCm39)	missense	probably benign	0.14
R0652:Eml3	UTSW	19	8,910,649 (GRCm39)	missense	probably damaging	1.00
R0827:Eml3	UTSW	19	8,915,830 (GRCm39)	missense	probably damaging	0.98
R0841:Eml3	UTSW	19	8,915,049 (GRCm39)	missense	probably benign
R0880:Eml3	UTSW	19	8,918,279 (GRCm39)	missense	possibly damaging	0.92
R0924:Eml3	UTSW	19	8,910,675 (GRCm39)	critical splice donor site	probably null
R1127:Eml3	UTSW	19	8,913,672 (GRCm39)	missense	probably damaging	0.99
R1156:Eml3	UTSW	19	8,911,494 (GRCm39)	missense	probably damaging	1.00
R1160:Eml3	UTSW	19	8,910,614 (GRCm39)	missense	probably benign	0.00
R1427:Eml3	UTSW	19	8,911,225 (GRCm39)	missense	probably damaging	1.00
R1497:Eml3	UTSW	19	8,913,733 (GRCm39)	missense	probably damaging	1.00
R1679:Eml3	UTSW	19	8,914,001 (GRCm39)	missense	probably damaging	0.98
R1931:Eml3	UTSW	19	8,914,507 (GRCm39)	missense	probably benign	0.43
R2119:Eml3	UTSW	19	8,911,718 (GRCm39)	critical splice donor site	probably null
R4296:Eml3	UTSW	19	8,908,773 (GRCm39)	missense	probably damaging	1.00
R5122:Eml3	UTSW	19	8,915,060 (GRCm39)	critical splice donor site	probably null
R5288:Eml3	UTSW	19	8,916,638 (GRCm39)	missense	probably damaging	1.00
R5467:Eml3	UTSW	19	8,914,946 (GRCm39)	nonsense	probably null
R5836:Eml3	UTSW	19	8,918,659 (GRCm39)	missense	possibly damaging	0.96
R5845:Eml3	UTSW	19	8,916,582 (GRCm39)	missense	probably damaging	1.00
R5879:Eml3	UTSW	19	8,912,379 (GRCm39)	missense	possibly damaging	0.77
R5881:Eml3	UTSW	19	8,910,807 (GRCm39)	missense	probably damaging	1.00
R6011:Eml3	UTSW	19	8,916,471 (GRCm39)	missense	probably damaging	1.00
R6247:Eml3	UTSW	19	8,908,313 (GRCm39)	missense	probably benign
R6777:Eml3	UTSW	19	8,914,086 (GRCm39)	missense	probably benign
R7132:Eml3	UTSW	19	8,918,392 (GRCm39)	missense	probably benign	0.25
R7169:Eml3	UTSW	19	8,910,828 (GRCm39)	missense	probably damaging	1.00
R7896:Eml3	UTSW	19	8,911,171 (GRCm39)	missense	possibly damaging	0.96
R8054:Eml3	UTSW	19	8,916,414 (GRCm39)	missense	possibly damaging	0.77
R8354:Eml3	UTSW	19	8,912,358 (GRCm39)	missense	probably damaging	1.00
R8361:Eml3	UTSW	19	8,914,801 (GRCm39)	missense	possibly damaging	0.94
R8454:Eml3	UTSW	19	8,912,358 (GRCm39)	missense	probably damaging	1.00
R8896:Eml3	UTSW	19	8,914,056 (GRCm39)	missense	probably damaging	1.00
X0025:Eml3	UTSW	19	8,914,803 (GRCm39)	missense	probably damaging	0.96
Z1177:Eml3	UTSW	19	8,914,925 (GRCm39)	critical splice acceptor site	probably null

Posted On

2014-05-07