Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:Ect2'

58582

Institutional Source

Beutler Lab

Gene Symbol

Ect2

Ensembl Gene

ENSMUSG00000027699

Gene Name

ect2 oncogene

Synonyms

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27151371-27207971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27193801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 226 (A226T)

Ref Sequence

ENSEMBL: ENSMUSP00000135740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108298] [ENSMUST00000108300] [ENSMUST00000176242] [ENSMUST00000184113]

AlphaFold

Q07139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108296

Predicted Effect

probably damaging
Transcript: ENSMUST00000108298
AA Change: A226T

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

SMART Domains

Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699
AA Change: A226T

Domain	Start	End	E-Value	Type
BRCT	143	219	1.45e-10	SMART
BRCT	237	313	2.52e-10	SMART
low complexity region	331	341	N/A	INTRINSIC
RhoGEF	425	609	3.22e-67	SMART
Blast:PH	636	763	9e-81	BLAST
low complexity region	825	839	N/A	INTRINSIC
low complexity region	856	865	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108300
AA Change: A257T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699
AA Change: A257T

Domain	Start	End	E-Value	Type
BRCT	174	250	1.45e-10	SMART
BRCT	268	344	2.52e-10	SMART
low complexity region	362	372	N/A	INTRINSIC
RhoGEF	456	640	3.22e-67	SMART
Blast:PH	667	794	1e-80	BLAST
low complexity region	856	870	N/A	INTRINSIC
low complexity region	887	896	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124727

Predicted Effect

probably damaging
Transcript: ENSMUST00000176242
AA Change: A226T

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

SMART Domains

Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699
AA Change: A226T

Domain	Start	End	E-Value	Type
BRCT	143	219	1.45e-10	SMART
BRCT	237	313	2.52e-10	SMART
low complexity region	331	341	N/A	INTRINSIC
RhoGEF	425	609	3.22e-67	SMART
Blast:PH	636	763	9e-81	BLAST
low complexity region	825	839	N/A	INTRINSIC
low complexity region	856	865	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184113

Meta Mutation Damage Score

0.5495

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Homozygous disruption of this locus is embryonic lethal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
B3galt2	A	G	1: 143,521,878 (GRCm39)	R5G	probably damaging	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ercc8	G	A	13: 108,310,595 (GRCm39)		probably null	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Fank1	A	G	7: 133,478,494 (GRCm39)	Y185C	probably damaging	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Mtss2	C	T	8: 111,464,580 (GRCm39)	P322S	probably damaging	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,099,864 (GRCm39)	D170V	probably benign	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn1r184	C	A	7: 25,966,602 (GRCm39)	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	Het

Other mutations in Ect2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Ect2	APN	3	27,192,818 (GRCm39)	missense	probably benign	0.04
IGL00770:Ect2	APN	3	27,152,592 (GRCm39)	missense	probably damaging	0.99
IGL00774:Ect2	APN	3	27,152,592 (GRCm39)	missense	probably damaging	0.99
IGL01414:Ect2	APN	3	27,181,878 (GRCm39)	splice site	probably benign
IGL02017:Ect2	APN	3	27,176,193 (GRCm39)	nonsense	probably null
IGL02318:Ect2	APN	3	27,192,868 (GRCm39)	missense	probably benign	0.16
IGL02395:Ect2	APN	3	27,204,255 (GRCm39)	missense	probably damaging	1.00
IGL03109:Ect2	APN	3	27,199,121 (GRCm39)	missense	possibly damaging	0.88
IGL03178:Ect2	APN	3	27,203,009 (GRCm39)	missense	probably benign	0.03
IGL03055:Ect2	UTSW	3	27,191,211 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Ect2	UTSW	3	27,181,097 (GRCm39)	nonsense	probably null
R0090:Ect2	UTSW	3	27,192,651 (GRCm39)	missense	probably null	0.08
R0090:Ect2	UTSW	3	27,169,625 (GRCm39)	missense	probably benign	0.00
R0436:Ect2	UTSW	3	27,204,244 (GRCm39)	missense	probably benign	0.11
R1847:Ect2	UTSW	3	27,204,221 (GRCm39)	missense	probably benign	0.01
R2404:Ect2	UTSW	3	27,185,999 (GRCm39)	missense	probably benign	0.00
R3890:Ect2	UTSW	3	27,192,689 (GRCm39)	missense	probably damaging	1.00
R3951:Ect2	UTSW	3	27,184,269 (GRCm39)	missense	probably benign	0.00
R4588:Ect2	UTSW	3	27,201,149 (GRCm39)	missense	probably damaging	1.00
R4754:Ect2	UTSW	3	27,181,112 (GRCm39)	missense	probably damaging	1.00
R5051:Ect2	UTSW	3	27,156,635 (GRCm39)	missense	probably benign
R5254:Ect2	UTSW	3	27,184,219 (GRCm39)	missense	probably damaging	1.00
R5415:Ect2	UTSW	3	27,201,002 (GRCm39)	missense	probably damaging	1.00
R5786:Ect2	UTSW	3	27,201,102 (GRCm39)	missense	probably damaging	1.00
R5940:Ect2	UTSW	3	27,169,614 (GRCm39)	missense	probably benign	0.01
R5974:Ect2	UTSW	3	27,199,112 (GRCm39)	nonsense	probably null
R6012:Ect2	UTSW	3	27,152,474 (GRCm39)	utr 3 prime	probably benign
R6434:Ect2	UTSW	3	27,193,268 (GRCm39)	nonsense	probably null
R6447:Ect2	UTSW	3	27,169,633 (GRCm39)	missense	probably damaging	1.00
R6850:Ect2	UTSW	3	27,193,034 (GRCm39)	missense	probably damaging	1.00
R6989:Ect2	UTSW	3	27,156,637 (GRCm39)	nonsense	probably null
R7147:Ect2	UTSW	3	27,204,239 (GRCm39)	missense	probably benign	0.12
R7257:Ect2	UTSW	3	27,192,684 (GRCm39)	missense	probably damaging	1.00
R7417:Ect2	UTSW	3	27,152,568 (GRCm39)	missense	probably damaging	1.00
R7564:Ect2	UTSW	3	27,170,272 (GRCm39)	intron	probably benign
R7662:Ect2	UTSW	3	27,185,947 (GRCm39)	missense	probably damaging	0.99
R8720:Ect2	UTSW	3	27,169,647 (GRCm39)	missense	probably damaging	0.98
R8886:Ect2	UTSW	3	27,200,126 (GRCm39)	unclassified	probably benign
R8967:Ect2	UTSW	3	27,199,132 (GRCm39)	missense	probably damaging	1.00
R9619:Ect2	UTSW	3	27,201,026 (GRCm39)	missense	probably benign	0.08
R9741:Ect2	UTSW	3	27,156,607 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ACCTTTCATCCCCAACTGGTAAATAGC -3'
(R):5'- TTCTACTAAGCAGCATCCTGGGCG -3'

Sequencing Primer
(F):5'- gtaagccacagcaggaaaag -3'
(R):5'- GGCGACCTCCTCTTTTACTAAAC -3'

Posted On

2013-07-11