Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02293:Ect2l'

290124

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: 0.132) question?

Stock #

IGL02293

Quality Score

Status

Chromosome

Chromosomal Location

18004651-18086638 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 18016259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147170 (fasta)

Gene Model

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

AlphaFold

A0A140LIP2

Predicted Effect

probably null
Transcript: ENSMUST00000095817

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392

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 null
Transcript: ENSMUST00000207827

Predicted Effect

probably null
Transcript: ENSMUST00000208948

Predicted Effect

probably null
Transcript: ENSMUST00000209178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216336

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,340 (GRCm39)	K135R	probably benign	Het
Ahdc1	C	T	4: 132,792,929 (GRCm39)	A1390V	possibly damaging	Het
Aldh1a2	A	G	9: 71,192,559 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,162,736 (GRCm39)	L866H	probably damaging	Het
C6	T	A	15: 4,784,785 (GRCm39)	I217K	probably benign	Het
Ccr1l1	G	A	9: 123,777,973 (GRCm39)	T158I	possibly damaging	Het
Dnah6	A	T	6: 73,110,633 (GRCm39)		probably benign	Het
Eif1ad11	A	G	12: 87,994,033 (GRCm39)	N87S	probably benign	Het
Endov	T	C	11: 119,395,999 (GRCm39)		probably benign	Het
Fpr-rs7	A	G	17: 20,334,232 (GRCm39)	V86A	probably benign	Het
Gle1	A	G	2: 29,847,772 (GRCm39)	I660V	probably benign	Het
Hk2	A	T	6: 82,720,956 (GRCm39)	D159E	probably benign	Het
Hmcn1	A	G	1: 150,540,666 (GRCm39)	V2881A	probably damaging	Het
Hspa14	T	C	2: 3,512,071 (GRCm39)	K68E	probably damaging	Het
Ifi207	A	T	1: 173,551,314 (GRCm39)	I974N	probably damaging	Het
Igkv4-71	A	C	6: 69,220,306 (GRCm39)	S42A	possibly damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klhl32	A	G	4: 24,626,935 (GRCm39)	Y555H	probably damaging	Het
Lmbrd2	T	C	15: 9,172,276 (GRCm39)	S357P	probably benign	Het
Mfsd1	T	A	3: 67,505,425 (GRCm39)	V380D	probably damaging	Het
Ndc80	A	G	17: 71,821,273 (GRCm39)	F225S	probably damaging	Het
Or2ak7	T	C	11: 58,574,996 (GRCm39)	V99A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Plxnd1	A	G	6: 115,940,874 (GRCm39)	V1355A	probably damaging	Het
Prkd1	A	G	12: 50,536,761 (GRCm39)	S108P	probably damaging	Het
Ptges3	C	T	10: 127,911,204 (GRCm39)		probably benign	Het
Rabggta	G	T	14: 55,959,153 (GRCm39)	L5M	probably benign	Het
Rag1	C	T	2: 101,473,391 (GRCm39)	D584N	probably benign	Het
Rasl12	A	G	9: 65,315,593 (GRCm39)	D79G	probably benign	Het
Rhoj	A	G	12: 75,422,186 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,666,268 (GRCm39)	L483P	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
IGL02589:Ect2l	APN	10	18,016,342 (GRCm39)	splice site	probably benign
IGL02866:Ect2l	APN	10	18,035,565 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16