Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Ect2l'

309659

Institutional Source

Beutler Lab

Gene Symbol

Ect2l

Ensembl Gene

ENSMUSG00000071392

Gene Name

epithelial cell transforming sequence 2 oncogene-like

Synonyms

C330021H03Rik, Gm10331

MMRRC Submission

040798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R3886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18128903-18210890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18168458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 310 (V310M)

Ref Sequence

ENSEMBL: ENSMUSP00000146490 (fasta)

Gene Model

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

AlphaFold

A0A140LIP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095817
AA Change: V310M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: V310M

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: V310M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208948
AA Change: V310M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209178
AA Change: V218M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,692,213	N331S	probably benign	Het
2410089E03Rik	T	A	15: 8,171,805	V22E	probably damaging	Het
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
Adam17	G	A	12: 21,325,587	R744C	probably damaging	Het
Adss	A	G	1: 177,767,769	Y402H	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,723	K360R	probably benign	Het
Ccdc73	A	T	2: 104,991,343	T546S	possibly damaging	Het
Cd22	T	C	7: 30,870,107	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,467,451	E183G	probably damaging	Het
Col6a5	A	G	9: 105,930,930	L973P	unknown	Het
Cp	T	C	3: 19,989,111	L1021P	probably damaging	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,142,698	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,858,077	N376S	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Gm8674	T	C	13: 49,902,163		noncoding transcript	Het
Ice1	T	C	13: 70,605,370	T866A	probably benign	Het
Jade2	C	T	11: 51,830,499	V201I	possibly damaging	Het
Kcnb2	T	C	1: 15,710,415	S504P	probably damaging	Het
Kcng4	T	C	8: 119,633,247	K130R	probably benign	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lrch2	C	G	X: 147,473,007	A437P	probably damaging	Het
Lrrk1	C	T	7: 66,292,364	V709I	probably damaging	Het
Mdh1	A	G	11: 21,559,832	V181A	probably damaging	Het
Olfr1243	T	A	2: 89,527,732	H226L	possibly damaging	Het
Olfr978	A	G	9: 39,994,539	H243R	probably damaging	Het
Papd5	C	A	8: 88,200,415	A151E	probably benign	Het
Ppp1r3a	A	C	6: 14,719,912	D334E	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424	S207G	probably benign	Het
Robo3	G	A	9: 37,422,181	Q723*	probably null	Het
Rreb1	G	A	13: 37,898,506		probably null	Het
Slc35f2	T	A	9: 53,816,957	S372T	probably benign	Het
Slitrk5	T	A	14: 111,679,797	C284*	probably null	Het
Snapc4	G	A	2: 26,365,498	Q1005*	probably null	Het
Tnxb	A	G	17: 34,718,911	D3896G	probably damaging	Het
Tti1	A	G	2: 158,008,950	V123A	possibly damaging	Het
Usp1	T	C	4: 98,929,736	C147R	probably damaging	Het
Vill	A	G	9: 119,066,714	N106S	probably benign	Het

Other mutations in Ect2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Ect2l	APN	10	18130730	missense	probably damaging	1.00
IGL01773:Ect2l	APN	10	18161504	missense	probably damaging	0.97
IGL02293:Ect2l	APN	10	18140511	critical splice donor site	probably null
IGL02589:Ect2l	APN	10	18140594	splice site	probably benign
IGL02866:Ect2l	APN	10	18159817	missense	probably damaging	1.00
R0037:Ect2l	UTSW	10	18143097	missense	probably damaging	1.00
R0526:Ect2l	UTSW	10	18199940	missense	possibly damaging	0.92
R0628:Ect2l	UTSW	10	18143040	missense	probably damaging	1.00
R0839:Ect2l	UTSW	10	18141904	missense	probably benign	0.03
R0948:Ect2l	UTSW	10	18140586	missense	probably damaging	1.00
R1103:Ect2l	UTSW	10	18140526	missense	probably damaging	1.00
R1238:Ect2l	UTSW	10	18143104	missense	possibly damaging	0.94
R1326:Ect2l	UTSW	10	18165542	missense	probably benign	0.00
R1327:Ect2l	UTSW	10	18165542	missense	probably benign	0.00
R1544:Ect2l	UTSW	10	18168434	missense	probably benign	0.04
R1848:Ect2l	UTSW	10	18200033	missense	probably damaging	1.00
R1921:Ect2l	UTSW	10	18143004	missense	possibly damaging	0.89
R1938:Ect2l	UTSW	10	18144635	missense	probably benign	0.00
R2081:Ect2l	UTSW	10	18165527	missense	probably damaging	1.00
R3551:Ect2l	UTSW	10	18163393	missense	probably damaging	1.00
R3608:Ect2l	UTSW	10	18142940	missense	possibly damaging	0.92
R4120:Ect2l	UTSW	10	18130718	missense	probably benign	0.00
R4348:Ect2l	UTSW	10	18136988	missense	probably damaging	1.00
R4992:Ect2l	UTSW	10	18172729	missense	probably benign	0.00
R5053:Ect2l	UTSW	10	18140345	missense	probably damaging	1.00
R5144:Ect2l	UTSW	10	18144577	missense	probably benign	0.03
R5654:Ect2l	UTSW	10	18143062	missense	probably damaging	0.99
R5779:Ect2l	UTSW	10	18163438	missense	probably benign	0.09
R5814:Ect2l	UTSW	10	18200009	missense	probably damaging	0.97
R6053:Ect2l	UTSW	10	18141844	missense	probably damaging	1.00
R6057:Ect2l	UTSW	10	18161502	missense	probably benign	0.02
R6244:Ect2l	UTSW	10	18140397	missense	possibly damaging	0.93
R6720:Ect2l	UTSW	10	18140264	missense	probably damaging	1.00
R6817:Ect2l	UTSW	10	18174059	missense	probably benign	0.00
R6894:Ect2l	UTSW	10	18169380	critical splice donor site	probably null
R7199:Ect2l	UTSW	10	18129146	missense	probably benign	0.02
R7313:Ect2l	UTSW	10	18168401	missense	probably damaging	0.98
R7404:Ect2l	UTSW	10	18159781	missense	probably damaging	0.99
R7482:Ect2l	UTSW	10	18168454	missense	probably benign	0.07
R7751:Ect2l	UTSW	10	18169405	missense	possibly damaging	0.82
R7752:Ect2l	UTSW	10	18141964	missense	possibly damaging	0.94
R7880:Ect2l	UTSW	10	18136954	missense	possibly damaging	0.60
R7901:Ect2l	UTSW	10	18141964	missense	possibly damaging	0.94
R8138:Ect2l	UTSW	10	18169405	missense	probably damaging	0.96
R8526:Ect2l	UTSW	10	18144627	missense	probably benign	0.37
R8870:Ect2l	UTSW	10	18138860	nonsense	probably null
R8885:Ect2l	UTSW	10	18172835	missense	probably damaging	0.97
R9015:Ect2l	UTSW	10	18163400	missense	probably benign	0.00
R9040:Ect2l	UTSW	10	18201350	missense	possibly damaging	0.85
R9195:Ect2l	UTSW	10	18143088	missense	probably benign	0.00
R9335:Ect2l	UTSW	10	18201284	missense	probably null	1.00
R9496:Ect2l	UTSW	10	18129137	missense	probably damaging	1.00
R9659:Ect2l	UTSW	10	18165599	missense	possibly damaging	0.90
R9712:Ect2l	UTSW	10	18168434	missense	probably benign	0.04
R9788:Ect2l	UTSW	10	18165599	missense	possibly damaging	0.90
X0018:Ect2l	UTSW	10	18130652	missense	probably benign	0.02
Z1177:Ect2l	UTSW	10	18172672	missense	probably null	0.71

Predicted Primers

PCR Primer
(F):5'- TTGTGGATAAGCACTGTGGAC -3'
(R):5'- ACGGAGTTGCAAATGAACTTC -3'

Sequencing Primer
(F):5'- TAAGCACTGTGGACGCTCAG -3'
(R):5'- CTGGCAGGAGAAGTTTAGT -3'

Posted On

2015-04-17