Mutagenetix > Incidental Mutation

Incidental Mutation 'R8340:Etv3'

644824

Institutional Source

Beutler Lab

Gene Symbol

Etv3

Ensembl Gene

ENSMUSG00000003382

Gene Name

ets variant 3

Synonyms

METS, ETS-domain transcriptional repressor, Pe1

MMRRC Submission

067864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8340 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87432891-87447463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87443856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 480 (D480G)

Ref Sequence

ENSEMBL: ENSMUSP00000112915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119109] [ENSMUST00000170036]

AlphaFold

Q8R4Z4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119109
AA Change: D480G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112915
Gene: ENSMUSG00000003382
AA Change: D480G

Domain	Start	End	E-Value	Type
ETS	34	120	2.74e-51	SMART
low complexity region	170	177	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
low complexity region	504	513	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170036
AA Change: D480G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127419
Gene: ENSMUSG00000003382
AA Change: D480G

Domain	Start	End	E-Value	Type
ETS	34	120	2.74e-51	SMART
low complexity region	170	177	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
low complexity region	504	513	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	C	T	7: 81,435,839 (GRCm39)	V91M	probably damaging	Het
Actr2	A	G	11: 20,044,435 (GRCm39)	V57A	possibly damaging	Het
Aoah	A	G	13: 21,184,112 (GRCm39)	Y392C	probably damaging	Het
Armc6	T	G	8: 70,673,502 (GRCm39)	N407T	probably damaging	Het
BC024139	A	G	15: 76,005,670 (GRCm39)	V484A	probably benign	Het
Bdp1	A	G	13: 100,202,476 (GRCm39)	V716A	possibly damaging	Het
C2cd2	T	C	16: 97,670,013 (GRCm39)	E550G	probably benign	Het
Cbl	A	G	9: 44,070,297 (GRCm39)	S512P	possibly damaging	Het
Chac2	C	G	11: 30,927,511 (GRCm39)	G136A	probably damaging	Het
Crhr2	C	T	6: 55,079,831 (GRCm39)	V170M	probably damaging	Het
Cyp2c54	T	A	19: 40,060,831 (GRCm39)	D104V	possibly damaging	Het
Dhtkd1	T	A	2: 5,924,408 (GRCm39)	S402C	probably damaging	Het
Efcab3	A	G	11: 104,876,856 (GRCm39)	I4099V	unknown	Het
Fam186b	A	T	15: 99,177,595 (GRCm39)	I577K	probably benign	Het
Foxe1	T	C	4: 46,344,437 (GRCm39)	Y82H	possibly damaging	Het
Gsdma	T	A	11: 98,557,421 (GRCm39)	V120E	probably benign	Het
Insig2	A	T	1: 121,234,946 (GRCm39)	S153R	probably damaging	Het
Isx	T	A	8: 75,616,688 (GRCm39)	I105N	probably damaging	Het
Klra4	T	A	6: 130,042,257 (GRCm39)	E3D	probably benign	Het
Mkln1	G	T	6: 31,409,878 (GRCm39)	R172L	possibly damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Nell1	T	A	7: 49,870,021 (GRCm39)	D232E	probably damaging	Het
Nemf	T	G	12: 69,400,659 (GRCm39)	T139P	possibly damaging	Het
Nrdc	A	C	4: 108,858,351 (GRCm39)	K108Q	probably damaging	Het
Or10c1	G	T	17: 37,522,075 (GRCm39)	T223N	possibly damaging	Het
Or14j3	T	C	17: 37,901,034 (GRCm39)	D70G	probably damaging	Het
Or3a10	G	T	11: 73,935,851 (GRCm39)	P83Q	probably damaging	Het
Pcnx4	T	C	12: 72,613,851 (GRCm39)	S599P	probably damaging	Het
Plscr2	A	G	9: 92,173,130 (GRCm39)	N224S	probably benign	Het
Poln	A	G	5: 34,307,118 (GRCm39)	S28P	probably damaging	Het
Prr36	A	G	8: 4,264,224 (GRCm39)	S481P	unknown	Het
Scrn1	G	A	6: 54,511,518 (GRCm39)	A74V	possibly damaging	Het
Slc22a22	T	A	15: 57,127,086 (GRCm39)		probably null	Het
Srpra	A	G	9: 35,127,102 (GRCm39)	D592G	probably damaging	Het
Tnc	T	C	4: 63,926,036 (GRCm39)	N915D	probably damaging	Het
Trpm2	T	A	10: 77,759,458 (GRCm39)	K1109*	probably null	Het
Tsks	C	T	7: 44,602,144 (GRCm39)	R287W	probably damaging	Het
Ush1c	T	G	7: 45,860,630 (GRCm39)	M456L	probably benign	Het
Usp38	A	G	8: 81,712,031 (GRCm39)	V668A	probably benign	Het
Vmn2r117	T	A	17: 23,679,511 (GRCm39)	Q571L	probably benign	Het
Vmn2r13	A	T	5: 109,322,006 (GRCm39)	D230E	probably benign	Het
Vmn2r25	C	T	6: 123,829,972 (GRCm39)	G60S	probably benign	Het
Vmn2r82	A	G	10: 79,217,036 (GRCm39)	D456G	probably benign	Het
Zfp738	A	C	13: 67,819,231 (GRCm39)	H253Q	probably damaging	Het

Other mutations in Etv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Etv3	APN	3	87,443,025 (GRCm39)	missense	possibly damaging	0.68
IGL02613:Etv3	APN	3	87,443,702 (GRCm39)	missense	possibly damaging	0.53
IGL02698:Etv3	APN	3	87,443,885 (GRCm39)	missense	possibly damaging	0.53
Rodeo	UTSW	3	87,443,338 (GRCm39)	nonsense	probably null
Schooled	UTSW	3	87,436,577 (GRCm39)	missense	probably damaging	1.00
R0056:Etv3	UTSW	3	87,443,135 (GRCm39)	missense	possibly damaging	0.86
R2074:Etv3	UTSW	3	87,443,526 (GRCm39)	missense	probably benign
R2104:Etv3	UTSW	3	87,443,369 (GRCm39)	missense	possibly damaging	0.53
R4120:Etv3	UTSW	3	87,443,589 (GRCm39)	missense	probably benign	0.00
R4923:Etv3	UTSW	3	87,443,223 (GRCm39)	missense	possibly damaging	0.96
R4960:Etv3	UTSW	3	87,435,368 (GRCm39)	missense	probably damaging	1.00
R5642:Etv3	UTSW	3	87,443,322 (GRCm39)	missense	possibly damaging	0.96
R5907:Etv3	UTSW	3	87,442,850 (GRCm39)	missense	probably benign	0.23
R6020:Etv3	UTSW	3	87,436,671 (GRCm39)	missense	probably benign
R6882:Etv3	UTSW	3	87,436,577 (GRCm39)	missense	probably damaging	1.00
R7515:Etv3	UTSW	3	87,435,363 (GRCm39)	missense	possibly damaging	0.58
R7570:Etv3	UTSW	3	87,443,338 (GRCm39)	nonsense	probably null
R8690:Etv3	UTSW	3	87,443,786 (GRCm39)	missense	possibly damaging	0.93
R9664:Etv3	UTSW	3	87,443,172 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGAGAAGGATCCTGACAGCC -3'
(R):5'- GTCCACGCCCCAGAATTATC -3'

Sequencing Primer
(F):5'- AAAGGCACCGGGTTTGC -3'
(R):5'- GCCCCAGAATTATCAAACCAGCTG -3'

Posted On

2020-09-02