Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00933:Eml3'

29514

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: 0.792) question?

Stock #

IGL00933

Quality Score

Status

Chromosome

Chromosomal Location

8906916-8918946 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 8913762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 73 (W73*)

Ref Sequence

ENSEMBL: ENSMUSP00000153061 (fasta)

Gene Model

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

AlphaFold

Q8VC03

Predicted Effect

probably null
Transcript: ENSMUST00000096241
AA Change: W435*

SMART Domains

Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: W435*

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 null
Transcript: ENSMUST00000224272
AA Change: W434*

Predicted Effect

probably null
Transcript: ENSMUST00000224642
AA Change: W73*

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc3	T	A	13: 81,039,174 (GRCm39)		probably benign	Het
Brca2	A	G	5: 150,465,869 (GRCm39)	S1878G	probably benign	Het
Cpa6	T	C	1: 10,407,595 (GRCm39)	H314R	probably benign	Het
Ehbp1l1	A	G	19: 5,767,961 (GRCm39)	I1114T	probably benign	Het
Fmo4	G	T	1: 162,621,592 (GRCm39)	Q540K	probably benign	Het
Fstl4	G	A	11: 53,077,588 (GRCm39)	G782R	possibly damaging	Het
Itga11	T	C	9: 62,676,587 (GRCm39)	I925T	possibly damaging	Het
Itsn2	T	G	12: 4,757,540 (GRCm39)	F1411C	probably damaging	Het
Lmna	A	T	3: 88,389,856 (GRCm39)	C590S	possibly damaging	Het
Magi3	A	G	3: 103,923,163 (GRCm39)	Y1185H	probably benign	Het
Marf1	A	G	16: 13,935,221 (GRCm39)	Y1516H	probably damaging	Het
Mast4	T	C	13: 102,871,874 (GRCm39)	D2306G	probably damaging	Het
Ncoa6	A	G	2: 155,257,317 (GRCm39)	V742A	probably damaging	Het
Nol4l	A	G	2: 153,319,856 (GRCm39)	F175S	probably damaging	Het
Or9k2b	A	T	10: 130,016,083 (GRCm39)	M222K	probably benign	Het
Orm2	T	C	4: 63,282,389 (GRCm39)		probably benign	Het
Pik3cb	T	A	9: 98,983,339 (GRCm39)	T90S	probably damaging	Het
Plekhg2	G	A	7: 28,060,114 (GRCm39)	P1072S	probably benign	Het
Rgr	A	T	14: 36,760,875 (GRCm39)	Y227*	probably null	Het
Snd1	T	C	6: 28,512,985 (GRCm39)		probably null	Het
Zfp560	A	G	9: 20,260,104 (GRCm39)	S253P	probably benign	Het

Other mutations in Eml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01398:Eml3	APN	19	8,911,598 (GRCm39)	splice site	probably benign
IGL01904:Eml3	APN	19	8,914,130 (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

2013-04-17