Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Etv4'

442003

Institutional Source

Beutler Lab

Gene Symbol

Etv4

Ensembl Gene

ENSMUSG00000017724

Gene Name

ets variant 4

Synonyms

Pea-3, Pea3

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.587) question?

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101660568-101676197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101662751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 277 (H277L)

Ref Sequence

ENSEMBL: ENSMUSP00000102794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017868] [ENSMUST00000039152] [ENSMUST00000107176] [ENSMUST00000164750]

AlphaFold

P28322

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017868
AA Change: H283L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017868
Gene: ENSMUSG00000017724
AA Change: H283L

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 benign
Transcript: ENSMUST00000039152

SMART Domains

Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
low complexity region	168	240	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
S1	287	360	3.52e-18	SMART
low complexity region	453	469	N/A	INTRINSIC
coiled coil region	496	525	N/A	INTRINSIC
DEXDc	587	771	7.26e-33	SMART
HELICc	815	919	7.45e-21	SMART
HA2	980	1070	1.34e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107176
AA Change: H277L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102794
Gene: ENSMUSG00000017724
AA Change: H277L

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: ENSMUST00000132040

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164750
AA Change: H282L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129261
Gene: ENSMUSG00000017724
AA Change: H282L

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: ENSMUST00000137179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140970

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	probably damaging	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
IGL02491:Etv4	APN	11	101,674,791 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTTTCAGGGACAATGCAGACATC -3'
(R):5'- AACTTCCCCTGGGATTTAGTGG -3'

Sequencing Primer
(F):5'- ACATCATCTGGGAATGGTCG -3'
(R):5'- CTGGGATTTAGTGGCGGGAAAAG -3'

Posted On

2016-11-08