Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02866:Ect2l'

362327

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ect2l

Ensembl Gene

ENSMUSG00000071392

Gene Name

epithelial cell transforming sequence 2 oncogene-like

Synonyms

C330021H03Rik, Gm10331

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL02866

Quality Score

Status

Chromosome

Chromosomal Location

18004651-18086638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18035565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 420 (I420N)

Ref Sequence

ENSEMBL: ENSMUSP00000147170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095817] [ENSMUST00000207827] [ENSMUST00000208948] [ENSMUST00000209178]

AlphaFold

A0A140LIP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095817
AA Change: I512N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: I512N

Domain	Start	End	E-Value	Type
FBOX	93	133	3.5e-4	SMART
Pfam:DUF4347	297	468	1.4e-11	PFAM
RhoGEF	578	761	6.3e-46	SMART
Blast:PH	793	909	6e-49	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000207827
AA Change: I512N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208948
AA Change: I512N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209178
AA Change: I420N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,181,914 (GRCm39)	M1118L	possibly damaging	Het
Ckmt2	A	T	13: 92,006,400 (GRCm39)	L315*	probably null	Het
Dusp28	T	A	1: 92,835,378 (GRCm39)	I154N	probably benign	Het
Erap1	C	A	13: 74,816,118 (GRCm39)	N82K	probably damaging	Het
Gsdma3	A	G	11: 98,520,585 (GRCm39)	D72G	possibly damaging	Het
Hectd1	T	A	12: 51,837,396 (GRCm39)	S720C	probably damaging	Het
Jakmip2	T	G	18: 43,685,266 (GRCm39)	E674A	probably benign	Het
Kcnt2	T	C	1: 140,352,986 (GRCm39)	S232P	probably damaging	Het
Kmo	T	C	1: 175,481,154 (GRCm39)	S291P	probably damaging	Het
Kpnb1	A	G	11: 97,068,112 (GRCm39)	V286A	probably damaging	Het
Ldah	T	A	12: 8,288,602 (GRCm39)	V83D	probably benign	Het
Mrgprb5	T	A	7: 47,817,914 (GRCm39)	I274F	probably damaging	Het
Mycbp2	A	G	14: 103,367,428 (GRCm39)	I988T	probably damaging	Het
Myh3	A	G	11: 66,979,849 (GRCm39)	E596G	probably benign	Het
Ndufs1	T	C	1: 63,186,300 (GRCm39)	I52V	probably benign	Het
Nhsl1	G	T	10: 18,403,355 (GRCm39)	D1363Y	probably damaging	Het
Or14c41	T	A	7: 86,234,901 (GRCm39)	C139*	probably null	Het
Or51f1e	C	A	7: 102,747,590 (GRCm39)	T214K	probably damaging	Het
Or5b98	A	G	19: 12,931,719 (GRCm39)	I255M	possibly damaging	Het
Or6c66	A	C	10: 129,461,575 (GRCm39)	Y118*	probably null	Het
Pcdhb19	T	C	18: 37,632,163 (GRCm39)	S653P	possibly damaging	Het
Plcb3	A	G	19: 6,935,044 (GRCm39)	L869P	probably damaging	Het
Prkdc	T	A	16: 15,649,191 (GRCm39)	F3722I	probably damaging	Het
Ptprd	T	C	4: 75,968,674 (GRCm39)	K206R	probably damaging	Het
Pwwp3b	T	C	X: 138,135,753 (GRCm39)	V97A	probably benign	Het
Robo3	C	A	9: 37,333,602 (GRCm39)	R703L	possibly damaging	Het
Tob1	A	T	11: 94,104,883 (GRCm39)	M140L	possibly damaging	Het
Ubc	A	T	5: 125,464,486 (GRCm39)	D280E	probably benign	Het
Wasf3	C	A	5: 146,405,131 (GRCm39)	Q364K	probably benign	Het

Other mutations in Ect2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Ect2l	APN	10	18,006,478 (GRCm39)	missense	probably damaging	1.00
IGL01773:Ect2l	APN	10	18,037,252 (GRCm39)	missense	probably damaging	0.97
IGL02293:Ect2l	APN	10	18,016,259 (GRCm39)	critical splice donor site	probably null
IGL02589:Ect2l	APN	10	18,016,342 (GRCm39)	splice site	probably benign
R0037:Ect2l	UTSW	10	18,018,845 (GRCm39)	missense	probably damaging	1.00
R0526:Ect2l	UTSW	10	18,075,688 (GRCm39)	missense	possibly damaging	0.92
R0628:Ect2l	UTSW	10	18,018,788 (GRCm39)	missense	probably damaging	1.00
R0839:Ect2l	UTSW	10	18,017,652 (GRCm39)	missense	probably benign	0.03
R0948:Ect2l	UTSW	10	18,016,334 (GRCm39)	missense	probably damaging	1.00
R1103:Ect2l	UTSW	10	18,016,274 (GRCm39)	missense	probably damaging	1.00
R1238:Ect2l	UTSW	10	18,018,852 (GRCm39)	missense	possibly damaging	0.94
R1326:Ect2l	UTSW	10	18,041,290 (GRCm39)	missense	probably benign	0.00
R1327:Ect2l	UTSW	10	18,041,290 (GRCm39)	missense	probably benign	0.00
R1544:Ect2l	UTSW	10	18,044,182 (GRCm39)	missense	probably benign	0.04
R1848:Ect2l	UTSW	10	18,075,781 (GRCm39)	missense	probably damaging	1.00
R1921:Ect2l	UTSW	10	18,018,752 (GRCm39)	missense	possibly damaging	0.89
R1938:Ect2l	UTSW	10	18,020,383 (GRCm39)	missense	probably benign	0.00
R2081:Ect2l	UTSW	10	18,041,275 (GRCm39)	missense	probably damaging	1.00
R3551:Ect2l	UTSW	10	18,039,141 (GRCm39)	missense	probably damaging	1.00
R3608:Ect2l	UTSW	10	18,018,688 (GRCm39)	missense	possibly damaging	0.92
R3886:Ect2l	UTSW	10	18,044,206 (GRCm39)	missense	probably damaging	1.00
R4120:Ect2l	UTSW	10	18,006,466 (GRCm39)	missense	probably benign	0.00
R4348:Ect2l	UTSW	10	18,012,736 (GRCm39)	missense	probably damaging	1.00
R4992:Ect2l	UTSW	10	18,048,477 (GRCm39)	missense	probably benign	0.00
R5053:Ect2l	UTSW	10	18,016,093 (GRCm39)	missense	probably damaging	1.00
R5144:Ect2l	UTSW	10	18,020,325 (GRCm39)	missense	probably benign	0.03
R5654:Ect2l	UTSW	10	18,018,810 (GRCm39)	missense	probably damaging	0.99
R5779:Ect2l	UTSW	10	18,039,186 (GRCm39)	missense	probably benign	0.09
R5814:Ect2l	UTSW	10	18,075,757 (GRCm39)	missense	probably damaging	0.97
R6053:Ect2l	UTSW	10	18,017,592 (GRCm39)	missense	probably damaging	1.00
R6057:Ect2l	UTSW	10	18,037,250 (GRCm39)	missense	probably benign	0.02
R6244:Ect2l	UTSW	10	18,016,145 (GRCm39)	missense	possibly damaging	0.93
R6720:Ect2l	UTSW	10	18,016,012 (GRCm39)	missense	probably damaging	1.00
R6817:Ect2l	UTSW	10	18,049,807 (GRCm39)	missense	probably benign	0.00
R6894:Ect2l	UTSW	10	18,045,128 (GRCm39)	critical splice donor site	probably null
R7199:Ect2l	UTSW	10	18,004,894 (GRCm39)	missense	probably benign	0.02
R7313:Ect2l	UTSW	10	18,044,149 (GRCm39)	missense	probably damaging	0.98
R7404:Ect2l	UTSW	10	18,035,529 (GRCm39)	missense	probably damaging	0.99
R7482:Ect2l	UTSW	10	18,044,202 (GRCm39)	missense	probably benign	0.07
R7751:Ect2l	UTSW	10	18,045,153 (GRCm39)	missense	possibly damaging	0.82
R7752:Ect2l	UTSW	10	18,017,712 (GRCm39)	missense	possibly damaging	0.94
R7880:Ect2l	UTSW	10	18,012,702 (GRCm39)	missense	possibly damaging	0.60
R7901:Ect2l	UTSW	10	18,017,712 (GRCm39)	missense	possibly damaging	0.94
R8138:Ect2l	UTSW	10	18,045,153 (GRCm39)	missense	probably damaging	0.96
R8526:Ect2l	UTSW	10	18,020,375 (GRCm39)	missense	probably benign	0.37
R8870:Ect2l	UTSW	10	18,014,608 (GRCm39)	nonsense	probably null
R8885:Ect2l	UTSW	10	18,048,583 (GRCm39)	missense	probably damaging	0.97
R9015:Ect2l	UTSW	10	18,039,148 (GRCm39)	missense	probably benign	0.00
R9040:Ect2l	UTSW	10	18,077,098 (GRCm39)	missense	possibly damaging	0.85
R9195:Ect2l	UTSW	10	18,018,836 (GRCm39)	missense	probably benign	0.00
R9335:Ect2l	UTSW	10	18,077,032 (GRCm39)	missense	probably null	1.00
R9496:Ect2l	UTSW	10	18,004,885 (GRCm39)	missense	probably damaging	1.00
R9659:Ect2l	UTSW	10	18,041,347 (GRCm39)	missense	possibly damaging	0.90
R9712:Ect2l	UTSW	10	18,044,182 (GRCm39)	missense	probably benign	0.04
R9788:Ect2l	UTSW	10	18,041,347 (GRCm39)	missense	possibly damaging	0.90
X0018:Ect2l	UTSW	10	18,006,400 (GRCm39)	missense	probably benign	0.02
Z1177:Ect2l	UTSW	10	18,048,420 (GRCm39)	missense	probably null	0.71

Posted On

2015-12-18