Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Ect2l'

730264

Institutional Source

Beutler Lab

Gene Symbol

Ect2l

Ensembl Gene

ENSMUSG00000071392

Gene Name

epithelial cell transforming sequence 2 oncogene-like

Synonyms

C330021H03Rik, Gm10331

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18004651-18086638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18044182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 226 (V226I)

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: V318I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: V318I

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: V318I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208948
AA Change: V318I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000209178
AA Change: V226I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0822

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,765,784 (GRCm39)	M20L	probably benign	Het
Aadacl4fm1	C	T	4: 144,255,354 (GRCm39)	A258V	probably benign	Het
Abca8b	T	A	11: 109,833,163 (GRCm39)	D1241V	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Adcy10	T	C	1: 165,340,681 (GRCm39)	F229L	probably damaging	Het
Adsl	A	T	15: 80,839,840 (GRCm39)	N126I	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Ahnak	AGATCTC	A	19: 8,984,392 (GRCm39)		probably benign	Het
Aktip	G	A	8: 91,856,355 (GRCm39)	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,811,318 (GRCm39)	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,197,734 (GRCm39)	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,331,034 (GRCm39)	L583F	probably damaging	Het
Arhgef40	T	C	14: 52,226,415 (GRCm39)	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,498,757 (GRCm39)	S179G	probably benign	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Ccdc136	A	G	6: 29,417,441 (GRCm39)	E754G	probably benign	Het
Cers3	A	G	7: 66,423,378 (GRCm39)	K108E	probably benign	Het
Cmya5	T	C	13: 93,201,881 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,367,148 (GRCm39)	E478G	possibly damaging	Het
Colec10	T	A	15: 54,323,180 (GRCm39)	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,784,895 (GRCm39)	I514F	probably damaging	Het
Cux1	C	T	5: 136,338,673 (GRCm39)	E664K	probably benign	Het
Dars1	T	C	1: 128,333,199 (GRCm39)	Q75R	probably benign	Het
Disp1	T	A	1: 182,917,379 (GRCm39)	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Ep400	T	A	5: 110,904,509 (GRCm39)	H30L	unknown	Het
Ephx4	A	G	5: 107,567,647 (GRCm39)	I202V	probably benign	Het
Exoc3	A	T	13: 74,341,027 (GRCm39)	F259Y	probably damaging	Het
Ezr	T	C	17: 7,020,394 (GRCm39)	E229G	probably damaging	Het
Fat1	A	T	8: 45,470,417 (GRCm39)	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972 (GRCm39)	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064 (GRCm39)	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,798,216 (GRCm39)	M759K	probably benign	Het
Gm9922	C	T	14: 101,966,893 (GRCm39)	A120T	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,276,696 (GRCm39)	S465G	unknown	Het
Ifi204	T	C	1: 173,576,924 (GRCm39)	Y559C	probably damaging	Het
Ift88	T	C	14: 57,718,853 (GRCm39)	S613P	probably damaging	Het
Kif21a	G	C	15: 90,869,528 (GRCm39)	A441G	probably damaging	Het
Kif21a	G	T	15: 90,879,715 (GRCm39)	T191K	probably benign	Het
Lrit1	T	A	14: 36,782,084 (GRCm39)	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837 (GRCm39)	D29E	probably benign	Het
Nlrp10	A	T	7: 108,524,735 (GRCm39)	D248E	probably damaging	Het
Nphp4	T	G	4: 152,631,521 (GRCm39)	V807G	probably benign	Het
Nsd1	T	C	13: 55,393,856 (GRCm39)	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,952,550 (GRCm39)	N80K	probably damaging	Het
Oprk1	T	A	1: 5,669,096 (GRCm39)	C181S	probably damaging	Het
Oprl1	T	A	2: 181,360,212 (GRCm39)	N89K	probably damaging	Het
Or5w12	A	T	2: 87,502,105 (GRCm39)	I202N	probably benign	Het
Or8k53	G	A	2: 86,177,583 (GRCm39)	H176Y	probably benign	Het
Pdcd11	A	G	19: 47,117,741 (GRCm39)	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607 (GRCm39)	H254Y	probably benign	Het
Pds5b	A	T	5: 150,729,128 (GRCm39)	D1419V	possibly damaging	Het
Per1	G	T	11: 68,991,475 (GRCm39)	G3V	probably benign	Het
Pex16	C	A	2: 92,206,988 (GRCm39)	N55K	probably damaging	Het
Phldb2	C	A	16: 45,595,340 (GRCm39)	L862F	probably benign	Het
Pld5	T	A	1: 175,791,572 (GRCm39)	D478V	probably benign	Het
Pms2	T	C	5: 143,851,614 (GRCm39)	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,326,758 (GRCm39)	E119D	probably benign	Het
Ppp2r1a	A	C	17: 21,179,058 (GRCm39)	E295A	probably damaging	Het
Qrfprl	A	G	6: 65,433,124 (GRCm39)	I315V	probably benign	Het
Rad51ap2	A	T	12: 11,507,593 (GRCm39)	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,615,536 (GRCm39)	V434G	probably damaging	Het
Rasgrf2	C	T	13: 92,136,092 (GRCm39)	V6M		Het
Rwdd1	A	T	10: 33,877,152 (GRCm39)	D197E		Het
Scn11a	A	T	9: 119,619,076 (GRCm39)	C755*	probably null	Het
Skil	T	C	3: 31,171,009 (GRCm39)	S443P	probably benign	Het
Slc12a6	T	C	2: 112,186,817 (GRCm39)	C939R	probably damaging	Het
Slc25a36	A	G	9: 96,961,230 (GRCm39)	S269P	probably benign	Het
Srrm4	T	A	5: 116,620,452 (GRCm39)	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tbc1d4	A	T	14: 101,744,846 (GRCm39)	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,424,313 (GRCm39)	N593D	probably damaging	Het
Trex1	C	A	9: 108,887,805 (GRCm39)	R62L	probably damaging	Het
Trpm3	A	T	19: 22,692,716 (GRCm39)	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,771,211 (GRCm39)	Y439*	probably null	Het
Ttn	G	A	2: 76,564,592 (GRCm39)	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,815,571 (GRCm39)	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,033,881 (GRCm39)	I212V	possibly damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,481,960 (GRCm39)	D95V	probably benign	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		Het
Zfp1002	C	T	2: 150,096,496 (GRCm39)	R311Q	probably benign	Het
Zfp28	T	C	7: 6,396,878 (GRCm39)	C438R	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
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
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'- ATAAGCACTGTGGACGCTC -3'
(R):5'- ACGGAGTTGCAAATGAACTTC -3'

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

Posted On

2022-10-06