Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01773:Ect2l'

153734

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 #

IGL01773

Quality Score

Status

Chromosome

Chromosomal Location

18004651-18086638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18037252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 382 (D382G)

Ref Sequence

ENSEMBL: ENSMUSP00000147170 (fasta)

Gene Model

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

AlphaFold

A0A140LIP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095817
AA Change: D474G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: D474G

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

possibly damaging
Transcript: ENSMUST00000207827
AA Change: D474G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208948
AA Change: D474G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209178
AA Change: D382G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1s	C	A	1: 136,046,491 (GRCm39)	H1775Q	probably benign	Het
Calcrl	A	G	2: 84,200,787 (GRCm39)	Y86H	probably benign	Het
Ccdc63	T	C	5: 122,251,208 (GRCm39)	K401E	possibly damaging	Het
Col9a1	A	G	1: 24,244,147 (GRCm39)	T127A	probably benign	Het
Cpq	T	A	15: 33,212,996 (GRCm39)	F5Y	probably benign	Het
Cuzd1	T	A	7: 130,916,614 (GRCm39)	M282L	probably damaging	Het
Ddx10	C	A	9: 53,115,430 (GRCm39)	D635Y	possibly damaging	Het
Ganc	T	C	2: 120,290,365 (GRCm39)	S901P	possibly damaging	Het
Gpr179	G	A	11: 97,232,192 (GRCm39)	R671C	probably benign	Het
Isl2	T	C	9: 55,451,504 (GRCm39)	L219P	probably damaging	Het
Mfsd13a	T	C	19: 46,357,733 (GRCm39)	S296P	possibly damaging	Het
Mtmr7	A	T	8: 41,034,461 (GRCm39)	L287Q	probably damaging	Het
Or11g25	T	C	14: 50,723,230 (GRCm39)	F105S	probably damaging	Het
Or52d13	T	G	7: 103,110,221 (GRCm39)	M60L	possibly damaging	Het
Or7a39	A	G	10: 78,715,770 (GRCm39)	T255A	possibly damaging	Het
Or8g28	A	G	9: 39,169,830 (GRCm39)	I46T	probably damaging	Het
Pik3c3	T	A	18: 30,410,155 (GRCm39)	F130I	probably damaging	Het
Rab3gap1	T	A	1: 127,845,958 (GRCm39)	S277R	possibly damaging	Het
Rassf9	A	G	10: 102,381,494 (GRCm39)	K290R	probably benign	Het
Rnaseh2a	A	T	8: 85,691,767 (GRCm39)	V136D	probably damaging	Het
Rnf39	C	T	17: 37,256,328 (GRCm39)	S140L	possibly damaging	Het
Sbno2	A	G	10: 79,893,665 (GRCm39)	V1212A	probably damaging	Het
Slc4a10	A	T	2: 62,021,101 (GRCm39)	I50F	probably damaging	Het
Slfn5	A	T	11: 82,852,157 (GRCm39)	E761V	probably damaging	Het
Sptlc1	A	G	13: 53,531,334 (GRCm39)	Y18H	probably damaging	Het
Tfam	A	G	10: 71,072,805 (GRCm39)	M9T	possibly damaging	Het
Tmem186	A	G	16: 8,453,841 (GRCm39)	L140P	probably damaging	Het
Try4	A	T	6: 41,281,960 (GRCm39)	N182I	probably damaging	Het
Vmn1r209	C	T	13: 22,990,450 (GRCm39)	C80Y	probably damaging	Het
Vmn2r104	A	T	17: 20,260,930 (GRCm39)	S498T	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
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
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

2014-02-04