Mutagenetix > Incidental Mutation

Incidental Mutation 'R8752:Etv6'

663910

Institutional Source

Beutler Lab

Gene Symbol

Etv6

Ensembl Gene

ENSMUSG00000030199

Gene Name

ets variant 6

Synonyms

translocation-ets-leukemia, Tel

MMRRC Submission

068595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134012663-134247121 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134243391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 382 (E382G)

Ref Sequence

ENSEMBL: ENSMUSP00000107594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081028] [ENSMUST00000111963]

AlphaFold

P97360

Predicted Effect

probably benign
Transcript: ENSMUST00000081028
AA Change: E471G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000079818
Gene: ENSMUSG00000030199
AA Change: E471G

Domain	Start	End	E-Value	Type
SAM_PNT	39	125	3.49e-41	SMART
ETS	334	420	7.02e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111963
AA Change: E382G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107594
Gene: ENSMUSG00000030199
AA Change: E382G

Domain	Start	End	E-Value	Type
Pfam:SAM_PNT	1	36	1.3e-10	PFAM
ETS	245	331	7.02e-49	SMART

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: This gene encodes a transcriptional repressor belonging to the ETS family of proteins. Knockout of this gene in mice results in embryonic lethality due to defective angiogenesis. In humans, this gene is often involved in chromosome rearrangements associated with specific cancers. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. [provided by MGI curators]

Allele List at MGI

All alleles(134) : Targeted(7) Gene trapped(127)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,704,396 (GRCm39)	K82R	probably damaging	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Adam29	A	T	8: 56,325,328 (GRCm39)	C375*	probably null	Het
Adat2	A	T	10: 13,432,604 (GRCm39)	E35D	probably benign	Het
Afm	A	C	5: 90,700,424 (GRCm39)	E600D	probably benign	Het
Ahnak	T	A	19: 8,992,901 (GRCm39)	D4728E	probably damaging	Het
Ak7	AAGGAG	AAG	12: 105,713,476 (GRCm39)		probably benign	Het
Ankrd28	C	A	14: 31,477,699 (GRCm39)		probably benign	Het
Ankrd31	A	T	13: 96,916,879 (GRCm39)	H131L	probably damaging	Het
Ano5	T	C	7: 51,196,617 (GRCm39)	F183L	probably damaging	Het
Asah1	G	A	8: 41,813,314 (GRCm39)	S33L	possibly damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccdc47	A	G	11: 106,095,818 (GRCm39)	Y293H	probably damaging	Het
Cd302	A	G	2: 60,102,529 (GRCm39)	F30S	probably damaging	Het
Ces1c	C	G	8: 93,846,964 (GRCm39)	A243P	probably damaging	Het
Deptor	A	T	15: 55,044,280 (GRCm39)	T149S	probably benign	Het
Dnah14	G	A	1: 181,455,581 (GRCm39)	R902H	probably benign	Het
Dnah5	A	G	15: 28,290,365 (GRCm39)	I1252V	probably benign	Het
Dnah7c	A	G	1: 46,711,701 (GRCm39)	I2643V	probably benign	Het
Dnajc4	C	T	19: 6,966,801 (GRCm39)	V177I	probably benign	Het
Efhc1	A	T	1: 21,059,692 (GRCm39)	N581Y	probably benign	Het
Espl1	A	G	15: 102,214,759 (GRCm39)	T767A	probably damaging	Het
Foxd4	A	T	19: 24,878,094 (GRCm39)	D35E	probably damaging	Het
Gata2	T	C	6: 88,177,513 (GRCm39)	V181A	possibly damaging	Het
Gm5114	A	T	7: 39,057,927 (GRCm39)	M564K	probably damaging	Het
Gpr45	A	T	1: 43,071,842 (GRCm39)	I162F	possibly damaging	Het
Hic1	A	G	11: 75,060,206 (GRCm39)	F47S	probably benign	Het
Hsf1	C	A	15: 76,384,344 (GRCm39)	S417*	probably null	Het
Id4	A	T	13: 48,415,065 (GRCm39)	H31L	possibly damaging	Het
Il12rb2	T	C	6: 67,328,265 (GRCm39)	S322G	probably damaging	Het
Lcn11	T	C	2: 25,668,138 (GRCm39)	Y99H	probably damaging	Het
Mipol1	G	A	12: 57,372,367 (GRCm39)	R142Q	probably damaging	Het
Mpp2	A	G	11: 101,976,129 (GRCm39)	S10P	probably benign	Het
Muc15	A	T	2: 110,561,758 (GRCm39)	N65Y	possibly damaging	Het
Nav3	T	C	10: 109,596,165 (GRCm39)		probably benign	Het
Ndst3	C	T	3: 123,342,684 (GRCm39)	R709Q	probably damaging	Het
Nek11	G	T	9: 105,225,207 (GRCm39)	Q102K	probably benign	Het
Nhsl1	A	G	10: 18,407,113 (GRCm39)	N1416D	probably benign	Het
Or13p3	A	C	4: 118,567,083 (GRCm39)	T160P	probably damaging	Het
Or2v1	T	A	11: 49,025,505 (GRCm39)	V162E	possibly damaging	Het
Or4c111	T	C	2: 88,844,231 (GRCm39)	Y59C	probably damaging	Het
Or5p72	T	C	7: 108,022,480 (GRCm39)	I234T	probably benign	Het
Or5w20	T	C	2: 87,726,591 (GRCm39)	I16T	possibly damaging	Het
Parp4	G	T	14: 56,886,073 (GRCm39)	E1717D	unknown	Het
Pla2g4d	A	T	2: 120,099,248 (GRCm39)		probably null	Het
Pramel52-ps	A	T	5: 94,529,354 (GRCm39)	R41S	possibly damaging	Het
Psmc2	A	G	5: 22,001,533 (GRCm39)	I107V	probably benign	Het
Rhod	G	T	19: 4,476,121 (GRCm39)	T210N	probably damaging	Het
Setx	A	T	2: 29,048,992 (GRCm39)	D2006V	probably damaging	Het
Sfpq	T	A	4: 126,919,969 (GRCm39)	M541K	possibly damaging	Het
Sorbs1	C	T	19: 40,349,872 (GRCm39)		probably null	Het
Sv2b	C	A	7: 74,855,842 (GRCm39)	M149I	possibly damaging	Het
Svil	T	A	18: 5,060,366 (GRCm39)		probably benign	Het
Vmn1r216	G	T	13: 23,283,880 (GRCm39)	V188F	probably damaging	Het
Vmn2r27	A	G	6: 124,201,018 (GRCm39)	F313S	probably benign	Het
Vmn2r44	A	G	7: 8,370,805 (GRCm39)	F747S	probably damaging	Het
Vmn2r95	T	C	17: 18,661,738 (GRCm39)	S495P	probably damaging	Het
Xpo5	C	T	17: 46,547,838 (GRCm39)		probably benign	Het
Zscan20	A	C	4: 128,479,480 (GRCm39)	C1004G	probably damaging	Het

Other mutations in Etv6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Etv6	APN	6	134,225,350 (GRCm39)	missense	probably benign	0.41
IGL02028:Etv6	APN	6	134,225,696 (GRCm39)	missense	probably benign	0.01
IGL02173:Etv6	APN	6	134,225,690 (GRCm39)	missense	possibly damaging	0.68
IGL03074:Etv6	APN	6	134,199,888 (GRCm39)	missense	probably damaging	0.98
R0056:Etv6	UTSW	6	134,225,497 (GRCm39)	nonsense	probably null
R0295:Etv6	UTSW	6	134,243,238 (GRCm39)	missense	probably benign	0.31
R2133:Etv6	UTSW	6	134,225,717 (GRCm39)	missense	possibly damaging	0.92
R3763:Etv6	UTSW	6	134,239,975 (GRCm39)	splice site	probably benign
R4405:Etv6	UTSW	6	134,210,497 (GRCm39)	missense	probably damaging	1.00
R6901:Etv6	UTSW	6	134,243,421 (GRCm39)	missense	probably benign	0.10
R8292:Etv6	UTSW	6	134,225,509 (GRCm39)	missense	probably benign
R8343:Etv6	UTSW	6	134,225,717 (GRCm39)	missense	possibly damaging	0.92
R9562:Etv6	UTSW	6	134,225,672 (GRCm39)	missense	probably benign	0.28
R9565:Etv6	UTSW	6	134,225,672 (GRCm39)	missense	probably benign	0.28
R9616:Etv6	UTSW	6	134,243,295 (GRCm39)	missense	possibly damaging	0.47
R9680:Etv6	UTSW	6	134,013,062 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTGGAGGGACATCTTTGG -3'
(R):5'- GAAGCGAACGTGACGTGTGA -3'

Sequencing Primer
(F):5'- GACATCTTTGGGGACACAGATTC -3'
(R):5'- AACGTGACGTGTGAGTCTCAG -3'

Posted On

2021-03-08