Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Etv4'

295671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Etv4

Ensembl Gene

ENSMUSG00000017724

Gene Name

ets variant 4

Synonyms

Pea-3, Pea3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.587) question?

Stock #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

101660568-101676197 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 101674791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017868] [ENSMUST00000107176] [ENSMUST00000164750]

AlphaFold

P28322

Predicted Effect

probably null
Transcript: ENSMUST00000017868

SMART Domains

Protein: ENSMUSP00000017868
Gene: ENSMUSG00000017724

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	5	341	6.5e-121	PFAM
ETS	342	427	2.4e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107176

SMART Domains

Protein: ENSMUSP00000102794
Gene: ENSMUSG00000017724

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	6	335	2.7e-118	PFAM
ETS	336	421	2.4e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137179

Predicted Effect

probably null
Transcript: ENSMUST00000164750

SMART Domains

Protein: ENSMUSP00000129261
Gene: ENSMUSG00000017724

Domain	Start	End	E-Value	Type
Pfam:ETS_PEA3_N	6	340	5.1e-121	PFAM
ETS	341	426	2.4e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154512

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit male infertility due to failure to ejaculate, impaired branching of motor neurons, and abnormal mammary gland terminal differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Cpsf7	A	G	19: 10,517,001 (GRCm39)	I368V	possibly damaging	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lpcat2	T	C	8: 93,600,879 (GRCm39)	V241A	probably damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Mtf1	T	C	4: 124,732,372 (GRCm39)	F477L	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Prss27	A	T	17: 24,263,229 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Slc7a13	T	A	4: 19,841,404 (GRCm39)	V417D	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp518b	A	G	5: 38,831,123 (GRCm39)	I294T	possibly damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	Het

Other mutations in Etv4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01477:Etv4	APN	11	101,667,954 (GRCm39)	missense	possibly damaging	0.94
IGL02281:Etv4	APN	11	101,664,545 (GRCm39)	missense	probably damaging	1.00
IGL03221:Etv4	APN	11	101,664,988 (GRCm39)	missense	probably damaging	1.00
R1539:Etv4	UTSW	11	101,662,513 (GRCm39)	critical splice donor site	probably null
R1925:Etv4	UTSW	11	101,662,507 (GRCm39)	splice site	probably benign
R2009:Etv4	UTSW	11	101,665,063 (GRCm39)	missense	probably damaging	1.00
R2133:Etv4	UTSW	11	101,666,243 (GRCm39)	missense	probably damaging	0.99
R4133:Etv4	UTSW	11	101,661,324 (GRCm39)	missense	probably damaging	1.00
R5396:Etv4	UTSW	11	101,666,167 (GRCm39)	missense	probably damaging	0.99
R5629:Etv4	UTSW	11	101,662,751 (GRCm39)	missense	probably damaging	0.99
R5771:Etv4	UTSW	11	101,662,282 (GRCm39)	missense	probably damaging	1.00
R7256:Etv4	UTSW	11	101,675,151 (GRCm39)	critical splice acceptor site	probably null
R8472:Etv4	UTSW	11	101,674,827 (GRCm39)	missense	probably damaging	0.99
R8953:Etv4	UTSW	11	101,662,513 (GRCm39)	critical splice donor site	probably null
R9109:Etv4	UTSW	11	101,664,492 (GRCm39)	missense	probably benign	0.04
R9174:Etv4	UTSW	11	101,662,705 (GRCm39)	critical splice donor site	probably null
R9188:Etv4	UTSW	11	101,666,202 (GRCm39)	missense	probably damaging	1.00
R9233:Etv4	UTSW	11	101,662,532 (GRCm39)	missense	probably damaging	1.00
R9312:Etv4	UTSW	11	101,664,923 (GRCm39)	missense	probably benign	0.05
Z1176:Etv4	UTSW	11	101,661,416 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16