Mutagenetix > Incidental Mutation

Incidental Mutation 'R8886:Ect2'

713480

Institutional Source

Beutler Lab

Gene Symbol

Ect2

Ensembl Gene

ENSMUSG00000027699

Gene Name

ect2 oncogene

Synonyms

MMRRC Submission

068691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27151371-27207971 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 27200126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108298] [ENSMUST00000108300] [ENSMUST00000175857] [ENSMUST00000176242] [ENSMUST00000176535] [ENSMUST00000176780] [ENSMUST00000177055] [ENSMUST00000184113]

AlphaFold

Q07139

Predicted Effect

silent
Transcript: ENSMUST00000108298

SMART Domains

Protein: ENSMUSP00000103933
Gene: ENSMUSG00000027699

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

silent
Transcript: ENSMUST00000108300

SMART Domains

Protein: ENSMUSP00000103935
Gene: ENSMUSG00000027699

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

probably benign
Transcript: ENSMUST00000175857

SMART Domains

Protein: ENSMUSP00000135208
Gene: ENSMUSG00000027699

Domain	Start	End	E-Value	Type
Blast:BRCT	139	161	2e-6	BLAST

Predicted Effect

silent
Transcript: ENSMUST00000176242

SMART Domains

Protein: ENSMUSP00000135740
Gene: ENSMUSG00000027699

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

silent
Transcript: ENSMUST00000176535

SMART Domains

Protein: ENSMUSP00000135630
Gene: ENSMUSG00000027699

Domain	Start	End	E-Value	Type
Blast:BRCT	140	162	4e-6	BLAST

Predicted Effect

silent
Transcript: ENSMUST00000176780

SMART Domains

Protein: ENSMUSP00000134786
Gene: ENSMUSG00000027699

Domain	Start	End	E-Value	Type
SCOP:d1gzhb1	117	174	5e-5	SMART
Blast:BRCT	143	174	4e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177055

SMART Domains

Protein: ENSMUSP00000134744
Gene: ENSMUSG00000027699

Domain	Start	End	E-Value	Type
Blast:BRCT	139	161	3e-6	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000184113
AA Change: I109V

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,882,349 (GRCm39)	N14I	possibly damaging	Het
1700066M21Rik	T	A	1: 57,422,008 (GRCm39)	I128N	probably damaging	Het
4930407I10Rik	G	T	15: 81,950,051 (GRCm39)	S1316I	probably damaging	Het
Abcc9	T	C	6: 142,546,420 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,150,928 (GRCm39)	S1102P	probably damaging	Het
BC061237	A	C	14: 44,741,691 (GRCm39)	I145L	probably benign	Het
Birc7	A	T	2: 180,574,786 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,319,806 (GRCm39)	G393S		Het
Ccdc112	C	T	18: 46,444,826 (GRCm39)	G18R	unknown	Het
Cryzl1	T	A	16: 91,492,188 (GRCm39)	T213S	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,298 (GRCm39)	N916D	probably benign	Het
Cyp4v3	A	T	8: 45,774,785 (GRCm39)	L123*	probably null	Het
Dmpk	C	A	7: 18,825,886 (GRCm39)		probably benign	Het
Dnah9	A	T	11: 65,943,840 (GRCm39)	V1932E	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Fkbp10	A	G	11: 100,312,862 (GRCm39)	E336G	probably damaging	Het
Gnptg	T	C	17: 25,453,628 (GRCm39)	S305G	probably benign	Het
Greb1l	A	T	18: 10,553,843 (GRCm39)	I1615F	probably benign	Het
Gse1	G	A	8: 121,297,470 (GRCm39)	R561Q	unknown	Het
Igkv9-129	T	A	6: 67,817,221 (GRCm39)	Y108*	probably null	Het
Igsf10	T	A	3: 59,237,410 (GRCm39)	T924S	probably benign	Het
Itgb6	A	T	2: 60,458,324 (GRCm39)	C476*	probably null	Het
Itih4	C	T	14: 30,617,482 (GRCm39)	Q601*	probably null	Het
Itpk1	G	A	12: 102,550,604 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jakmip3	G	A	7: 138,609,171 (GRCm39)	E92K	probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Klk1b5	T	A	7: 43,869,192 (GRCm39)	M122K	probably damaging	Het
Krt84	A	G	15: 101,437,221 (GRCm39)	I314T	possibly damaging	Het
Lama2	A	T	10: 27,245,157 (GRCm39)		probably benign	Het
Lmntd1	T	C	6: 145,363,152 (GRCm39)	T270A	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh11	A	G	16: 14,052,278 (GRCm39)	I396T		Het
Naprt	T	C	15: 75,765,433 (GRCm39)	T136A	probably damaging	Het
Nbea	T	C	3: 55,966,148 (GRCm39)	N438S	probably damaging	Het
Nckap1	C	A	2: 80,339,055 (GRCm39)		probably null	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nts	C	T	10: 102,320,868 (GRCm39)	A74T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or8b49	T	G	9: 38,506,446 (GRCm39)	F310V	possibly damaging	Het
Pcp2	A	G	8: 3,675,208 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,343,734 (GRCm39)	S752P	probably benign	Het
Pign	C	T	1: 105,512,779 (GRCm39)	V635I	probably benign	Het
Plekhg3	C	A	12: 76,611,748 (GRCm39)	H342Q	possibly damaging	Het
Ppp4c	A	T	7: 126,386,466 (GRCm39)	I177N	probably damaging	Het
Psmd5	A	G	2: 34,747,755 (GRCm39)	F301L	possibly damaging	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rbm20	A	T	19: 53,801,767 (GRCm39)	I92L	probably benign	Het
Rnf213	A	G	11: 119,364,264 (GRCm39)	D4522G		Het
Robo3	T	C	9: 37,328,768 (GRCm39)	E1276G	probably damaging	Het
Rxrb	T	C	17: 34,256,428 (GRCm39)	F500L	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Scd3	A	G	19: 44,230,276 (GRCm39)	D353G	probably damaging	Het
Sh2d4b	T	C	14: 40,595,946 (GRCm39)		probably benign	Het
Ski	A	T	4: 155,244,016 (GRCm39)	L498Q	probably null	Het
Spocd1	T	A	4: 129,845,631 (GRCm39)	M497K		Het
Sspo	A	G	6: 48,458,201 (GRCm39)	E3299G	possibly damaging	Het
St14	C	A	9: 31,008,420 (GRCm39)	V507F	possibly damaging	Het
Tcf24	G	A	1: 10,037,388 (GRCm39)	T108I	probably benign	Het
Tecta	T	C	9: 42,278,359 (GRCm39)	T1050A	probably benign	Het
Ttc17	T	C	2: 94,205,473 (GRCm39)	D291G	probably benign	Het
Tubgcp2	G	T	7: 139,584,882 (GRCm39)	R518S	probably benign	Het
Ugt2a3	T	C	5: 87,484,358 (GRCm39)	Y222C	probably damaging	Het
Unc5c	C	G	3: 141,509,581 (GRCm39)	A687G	probably benign	Het
Usp42	T	C	5: 143,700,714 (GRCm39)	D1103G	probably damaging	Het
Vmn1r83	A	C	7: 12,055,843 (GRCm39)	D71E	probably benign	Het
Vmn2r3	T	A	3: 64,194,892 (GRCm39)	I9F	possibly damaging	Het
Zfand1	T	C	3: 10,409,862 (GRCm39)	Q160R	probably null	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably damaging	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
R0620:Ect2	UTSW	3	27,193,801 (GRCm39)	missense	probably damaging	0.99
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
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'- GTTACAAACCTTCAGTTGACCAG -3'
(R):5'- CCTTGGGTATTGAAAAGTTAACTGG -3'

Sequencing Primer
(F):5'- CAAACCTTCAGTTGACCAGTATAAC -3'
(R):5'- GGCTACACAGAGAAATCCTGTCTTG -3'

Posted On

2022-05-19