Mutagenetix > Incidental Mutation

Incidental Mutation 'R1327:Ect2l'

157250

Institutional Source

Beutler Lab

Gene Symbol

Ect2l

Ensembl Gene

ENSMUSG00000071392

Gene Name

epithelial cell transforming sequence 2 oncogene-like

Synonyms

C330021H03Rik, Gm10331

MMRRC Submission

039393-MU

Accession Numbers

Essential gene?

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

Stock #

R1327 (G1)

Quality Score

225

Status

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: 94.8%
20x: 88.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,560,748 (GRCm39)	F99L	possibly damaging	Het
Arg1	T	C	10: 24,796,702 (GRCm39)		probably null	Het
Bsnd	C	T	4: 106,343,809 (GRCm39)	E166K	probably benign	Het
Cxcl9	A	G	5: 92,474,709 (GRCm39)	C30R	probably damaging	Het
Epha5	C	A	5: 84,254,644 (GRCm39)	D632Y	probably damaging	Het
Fbxw11	T	C	11: 32,661,859 (GRCm39)	Y79H	probably benign	Het
Fh1	A	G	1: 175,437,310 (GRCm39)	M263T	probably benign	Het
Mrgprb1	A	T	7: 48,097,177 (GRCm39)	I245N	possibly damaging	Het
Ms4a13	A	T	19: 11,161,251 (GRCm39)	I96N	probably damaging	Het
Nipa2	G	A	7: 55,594,256 (GRCm39)	L38F	possibly damaging	Het
Pappa	T	A	4: 65,269,840 (GRCm39)		probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf111	A	T	9: 70,361,098 (GRCm39)	D454E	possibly damaging	Het
Rp1	C	T	1: 4,418,193 (GRCm39)	G973D	probably benign	Het
Rtn3	A	G	19: 7,408,376 (GRCm39)	V922A	possibly damaging	Het
Setbp1	T	C	18: 78,826,573 (GRCm39)	M1347V	probably benign	Het
Slc6a6	A	G	6: 91,703,016 (GRCm39)	I130V	probably benign	Het
Smad7	T	C	18: 75,509,016 (GRCm39)	S48P	probably benign	Het
Star	A	G	8: 26,299,865 (GRCm39)	D69G	probably benign	Het
Syne1	C	A	10: 4,998,925 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,743,743 (GRCm39)	N1212K	probably benign	Het
Tep1	T	C	14: 51,090,556 (GRCm39)	M721V	probably benign	Het
Txndc11	T	C	16: 10,934,678 (GRCm39)	D223G	possibly damaging	Het
Vit	G	A	17: 78,932,629 (GRCm39)	D579N	probably damaging	Het
Zan	T	C	5: 137,464,173 (GRCm39)		probably benign	Het
Zfp1005	A	T	2: 150,108,070 (GRCm39)	H10L	possibly damaging	Het
Zfp318	A	G	17: 46,724,189 (GRCm39)	E2064G	probably damaging	Het
Zftraf1	T	A	15: 76,533,376 (GRCm39)	T121S	probably damaging	Het
Zic5	T	G	14: 122,697,191 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,784,240 (GRCm39)		probably null	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
R1326: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