Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02613:Etv3'

300568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Etv3

Ensembl Gene

ENSMUSG00000003382

Gene Name

ets variant 3

Synonyms

METS, ETS-domain transcriptional repressor, Pe1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02613

Quality Score

Status

Chromosome

Chromosomal Location

87432891-87447463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87443702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 429 (T429A)

Ref Sequence

ENSEMBL: ENSMUSP00000127419 (fasta)

Gene Model

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

AlphaFold

Q8R4Z4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119109
AA Change: T429A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112915
Gene: ENSMUSG00000003382
AA Change: T429A

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

noncoding transcript
Transcript: ENSMUST00000136680

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170036
AA Change: T429A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127419
Gene: ENSMUSG00000003382
AA Change: T429A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,655,833 (GRCm39)	I549L	possibly damaging	Het
Arhgef17	A	T	7: 100,578,103 (GRCm39)	H948Q	probably damaging	Het
Auh	A	G	13: 53,073,035 (GRCm39)		probably null	Het
Btf3	A	G	13: 98,446,714 (GRCm39)		probably benign	Het
Capg	A	G	6: 72,532,594 (GRCm39)	N53S	probably damaging	Het
Cfap70	T	C	14: 20,459,132 (GRCm39)		probably null	Het
Chrna5	A	T	9: 54,913,705 (GRCm39)	E417V	probably damaging	Het
Coch	A	G	12: 51,642,132 (GRCm39)	T35A	possibly damaging	Het
Dock4	T	A	12: 40,860,465 (GRCm39)	L1284M	probably damaging	Het
Fmnl2	T	C	2: 52,963,747 (GRCm39)		probably null	Het
Glb1	A	G	9: 114,293,130 (GRCm39)	T502A	possibly damaging	Het
Greb1	C	A	12: 16,789,889 (GRCm39)		probably null	Het
Hspg2	A	G	4: 137,271,731 (GRCm39)	Y2499C	probably damaging	Het
Kcnq1	A	T	7: 142,979,863 (GRCm39)		probably benign	Het
Lrriq1	A	G	10: 102,980,409 (GRCm39)	S1497P	probably damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Mcc	A	G	18: 44,563,021 (GRCm39)	L982P	probably damaging	Het
Naif1	T	A	2: 32,345,172 (GRCm39)	M292K	possibly damaging	Het
Npb	T	A	11: 120,499,716 (GRCm39)	C99S	probably damaging	Het
Obscn	G	T	11: 58,892,958 (GRCm39)	R6763S	probably benign	Het
Or13a21	A	G	7: 139,999,383 (GRCm39)	V101A	probably benign	Het
Or5p56	C	T	7: 107,590,381 (GRCm39)	Q270*	probably null	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnm3	A	T	11: 71,948,898 (GRCm39)	S736T	probably damaging	Het
Polr1a	A	T	6: 71,944,304 (GRCm39)	E1257V	probably damaging	Het
Sec63	G	A	10: 42,677,703 (GRCm39)	D270N	probably damaging	Het
Snrnp200	C	T	2: 127,060,346 (GRCm39)	T530I	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Syk	G	A	13: 52,797,076 (GRCm39)	G546R	probably damaging	Het
Tfap2d	T	A	1: 19,189,415 (GRCm39)	L265Q	probably damaging	Het
Trav12-1	C	T	14: 53,775,742 (GRCm39)	S9L	possibly damaging	Het
Trerf1	T	C	17: 47,659,766 (GRCm39)		noncoding transcript	Het
Ttn	T	A	2: 76,558,704 (GRCm39)	I29726L	possibly damaging	Het
Usp18	A	G	6: 121,238,049 (GRCm39)	T143A	probably benign	Het
Usp32	A	T	11: 84,930,896 (GRCm39)	N511K	probably damaging	Het
Wdr64	C	T	1: 175,594,613 (GRCm39)	Q4*	probably null	Het
Zfp277	A	G	12: 40,379,514 (GRCm39)	F340S	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
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
R8340:Etv3	UTSW	3	87,443,856 (GRCm39)	missense	possibly damaging	0.85
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

Posted On

2015-04-16