Mutagenetix > Incidental Mutation

Incidental Mutation 'R1326:Ect2l'

157220

Institutional Source

Beutler Lab

Gene Symbol

Ect2l

Ensembl Gene

ENSMUSG00000071392

Gene Name

epithelial cell transforming sequence 2 oncogene-like

Synonyms

C330021H03Rik, Gm10331

MMRRC Submission

039392-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18004651-18086638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18041290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 296 (R296H)

Ref Sequence

ENSEMBL: ENSMUSP00000147170 (fasta)

Gene Model

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

AlphaFold

A0A140LIP2

Predicted Effect

probably benign
Transcript: ENSMUST00000095817
AA Change: R388H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: R388H

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 benign
Transcript: ENSMUST00000207827
AA Change: R388H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208948
AA Change: R388H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000209178
AA Change: R296H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 87.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	G	A	12: 52,565,153 (GRCm39)	S708N	possibly damaging	Het
Armc3	T	C	2: 19,314,935 (GRCm39)	*882Q	probably null	Het
Atp13a3	G	A	16: 30,171,128 (GRCm39)	L306F	probably damaging	Het
Cyp2d9	T	C	15: 82,339,357 (GRCm39)	I130T	possibly damaging	Het
Eomes	C	T	9: 118,313,565 (GRCm39)	Q518*	probably null	Het
Errfi1	T	C	4: 150,949,621 (GRCm39)	V6A	possibly damaging	Het
Fezf2	T	C	14: 12,342,644 (GRCm38)	N407S	probably benign	Het
Fpgs	T	C	2: 32,582,592 (GRCm39)		probably null	Het
Fsbp	A	G	4: 11,579,891 (GRCm39)	Y53C	probably damaging	Het
Hspd1	T	C	1: 55,119,418 (GRCm39)		probably null	Het
Ifna7	A	T	4: 88,734,931 (GRCm39)	E156V	possibly damaging	Het
Map1a	C	T	2: 121,136,671 (GRCm39)	Q2258*	probably null	Het
Mier2	A	G	10: 79,380,543 (GRCm39)	F289S	probably damaging	Het
Mmp16	A	G	4: 18,054,517 (GRCm39)	N341S	possibly damaging	Het
Moxd2	T	C	6: 40,857,288 (GRCm39)	T491A	probably benign	Het
Narf	T	A	11: 121,133,379 (GRCm39)	L60Q	probably damaging	Het
Pa2g4	T	C	10: 128,395,142 (GRCm39)	D341G	probably benign	Het
Parp1	T	A	1: 180,428,023 (GRCm39)	V991D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc1a4	A	G	11: 20,282,159 (GRCm39)	L105P	probably damaging	Het
Slc27a2	T	A	2: 126,406,690 (GRCm39)	Y125N	probably damaging	Het
Sorl1	A	G	9: 41,943,092 (GRCm39)	V928A	probably benign	Het
Spata31e2	G	T	1: 26,723,011 (GRCm39)	P723H	probably damaging	Het
Usp31	G	C	7: 121,247,525 (GRCm39)	S1306C	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCACATGTTCAGACATACGTTCAAAGC -3'
(R):5'- CGTGCTCCATGAAATATGGGTACACTG -3'

Sequencing Primer
(F):5'- cgttcaaagcaacttcacttacc -3'
(R):5'- AGATCTTGGTTTTATGGGCAAATAC -3'

Posted On

2014-02-18