Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Ect2l'

268346

Institutional Source

Beutler Lab

Gene Symbol

Ect2l

Ensembl Gene

ENSMUSG00000071392

Gene Name

epithelial cell transforming sequence 2 oncogene-like

Synonyms

C330021H03Rik, Gm10331

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18128903-18210890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18163393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 339 (I339T)

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: I431T

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: I431T

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: I431T

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208948
AA Change: I431T

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209178
AA Change: I339T

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Adam24	G	C	8: 40,679,593	W33C	probably benign	Het
Adgrl2	A	T	3: 148,858,963	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329	N17I	probably benign	Het
Bicra	T	A	7: 15,979,733	Q848L	probably benign	Het
C4b	T	C	17: 34,741,872	E240G	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Clca3a2	T	A	3: 144,803,081	N50I	probably damaging	Het
Dcaf7	A	G	11: 106,054,796	T324A	probably benign	Het
Dnah12	G	A	14: 26,770,972	R1230H	probably benign	Het
Dsg4	G	A	18: 20,451,756	V176M	probably damaging	Het
Edc4	A	T	8: 105,885,494	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,844,595	V401E	probably damaging	Het
Gm3269	T	A	14: 4,845,893	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,127,150		noncoding transcript	Het
Gm4922	A	T	10: 18,784,496	N159K	probably benign	Het
Gm5134	G	T	10: 76,000,447	A421S	probably benign	Het
Gm5724	T	C	6: 141,708,596	K647E	probably benign	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,633,103	V288A	probably benign	Het
Kng2	A	G	16: 23,011,995		probably null	Het
Lrfn1	T	C	7: 28,460,054	L466P	possibly damaging	Het
Magi1	T	A	6: 93,699,629	K916N	probably damaging	Het
Mms19	T	C	19: 41,949,798	T720A	probably benign	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,287,562	M43L	probably benign	Het
Nup43	A	G	10: 7,675,014	D216G	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Pear1	A	G	3: 87,758,132	F145L	probably benign	Het
Pgap1	A	G	1: 54,530,143	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,828,619		probably null	Het
Ptpn12	T	C	5: 20,989,049	K742E	possibly damaging	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,553,723	T138S	probably benign	Het
Slc4a2	C	T	5: 24,430,101	T168M	probably benign	Het
Spice1	G	T	16: 44,357,869	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,655,299	D103G	probably damaging	Het
Ubap2l	G	T	3: 90,015,451	T766N	unknown	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp759	T	C	13: 67,138,967	V194A	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
R3608:Ect2l	UTSW	10	18142940	missense	possibly damaging	0.92
R3886:Ect2l	UTSW	10	18168458	missense	probably damaging	1.00
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'- CAGGAGAGACGTATATCAGCAC -3'
(R):5'- TGACTGCCTCAGGAGAAACC -3'

Sequencing Primer
(F):5'- CTGATGAACAGCTGCTAGTTACTGAG -3'
(R):5'- CAGGAGAAACCCAAGGATTATTTTCC -3'

Posted On

2015-02-19