Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Ect2l'

505462

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: 0.121) question?

Stock #

R6244 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

18128903-18210890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18140397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 666 (Y666N)

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: Y716N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392
AA Change: Y716N

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: Y716N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208948
AA Change: Y758N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209178
AA Change: Y666N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216336

Meta Mutation Damage Score

0.2954

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352		probably null	Het
Brap	C	A	5: 121,665,309	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566		probably null	Het
Dpp6	A	G	5: 27,049,628	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307	D587V	probably damaging	Het
Epha2	G	A	4: 141,316,912	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776		probably null	Het
Fen1	A	G	19: 10,200,687	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058		probably null	Het
Magi3	G	C	3: 104,015,697	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558		probably null	Het
Polr2a	G	A	11: 69,744,226	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Sc5d	T	C	9: 42,255,421	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828		probably null	Het
Serpinb11	T	A	1: 107,372,242	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712		probably null	Het
Strn3	A	G	12: 51,610,107	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971	Y426H	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
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
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'- CACAGCAAAGAGGGCATCTC -3'
(R):5'- CCGCGTTTAGAGCATTCTTG -3'

Sequencing Primer
(F):5'- GTCTTCCAGTGAGACCACC -3'
(R):5'- CCGCGTTTAGAGCATTCTTGAAGAG -3'

Posted On

2018-02-28