Incidental Mutation 'R5629:Etv4'
ID442003
Institutional Source Beutler Lab
Gene Symbol Etv4
Ensembl Gene ENSMUSG00000017724
Gene Nameets variant 4
SynonymsPea3, Pea-3
MMRRC Submission 043280-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.555) question?
Stock #R5629 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location101769742-101785371 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101771925 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000137179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149099
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

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 6 340 5.1e-121 PFAM
ETS 341 426 2.4e-56 SMART
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 35,857,163 D189N probably benign Het
Adamts9 A T 6: 92,798,133 V1052D probably damaging Het
Apob T C 12: 8,007,847 Y2077H probably damaging Het
Apol7e A T 15: 77,718,076 K291N probably benign Het
Arsk A T 13: 76,093,908 I82N probably damaging Het
Art1 A G 7: 102,107,079 Q159R probably benign Het
Atp2a2 A G 5: 122,460,096 V733A probably damaging Het
Btn2a2 A T 13: 23,481,960 probably null Het
Catsper1 C T 19: 5,336,137 P133S probably benign Het
Celsr3 A G 9: 108,849,067 D3165G probably benign Het
Cldn19 T A 4: 119,256,919 V86E probably damaging Het
Ctnna1 T A 18: 35,249,749 D649E probably benign Het
Cttnbp2 A G 6: 18,405,218 I1094T probably damaging Het
Ddx24 T C 12: 103,425,547 probably benign Het
Ern2 T A 7: 122,170,166 H879L probably damaging Het
Faap100 G T 11: 120,377,011 A312D probably damaging Het
Glipr1l1 G A 10: 112,078,403 C223Y possibly damaging Het
Gna14 T C 19: 16,436,733 S14P possibly damaging Het
Hapln1 A G 13: 89,601,515 T60A probably damaging Het
Hars2 T A 18: 36,788,666 Y273* probably null Het
Ighv5-6 A T 12: 113,625,622 Y79* probably null Het
Iqgap2 T A 13: 95,632,174 N1406I probably damaging Het
Kalrn T C 16: 34,039,934 T215A possibly damaging Het
Krtap13-1 T A 16: 88,729,159 S90R probably benign Het
Mettl8 T C 2: 70,965,569 I372V probably benign Het
Mfn1 A T 3: 32,561,510 T341S possibly damaging Het
Mocos T A 18: 24,664,085 probably null Het
Muc5b T C 7: 141,861,299 S2661P possibly damaging Het
Myo15 C T 11: 60,479,752 P1113S probably benign Het
Myo5a A T 9: 75,203,845 I1540F possibly damaging Het
Myoc T C 1: 162,648,587 Y287H probably damaging Het
Napepld A G 5: 21,675,903 F165L probably benign Het
Ndufb10 T C 17: 24,722,682 E102G probably damaging Het
Nrros T A 16: 32,144,405 I265F probably damaging Het
Nrxn1 A T 17: 90,590,032 F891I possibly damaging Het
Nsfl1c T C 2: 151,504,165 Y169H probably damaging Het
Oas2 G A 5: 120,738,451 Q476* probably null Het
Olfr561 A T 7: 102,774,640 I39F possibly damaging Het
Pcnx2 C A 8: 125,898,041 W14L probably damaging Het
Piwil2 C T 14: 70,422,967 V70M probably damaging Het
Prss23 A C 7: 89,510,192 V223G probably damaging Het
Rarres2 A T 6: 48,570,260 L122Q probably benign Het
Robo1 T C 16: 72,983,710 V776A probably benign Het
Robo3 G A 9: 37,419,211 Q1008* probably null Het
Robo4 G A 9: 37,408,362 C636Y probably damaging Het
Sacm1l A G 9: 123,566,399 M196V probably benign Het
Sept7 T A 9: 25,288,293 Y163N probably damaging Het
Skint6 G A 4: 113,012,979 T594I possibly damaging Het
Slc23a1 T C 18: 35,626,492 H13R probably benign Het
Slc25a39 A C 11: 102,404,893 Y109* probably null Het
Slc8a3 G A 12: 81,199,631 R883C probably damaging Het
Spag17 A T 3: 100,080,119 Y1575F probably benign Het
Spdye4c T A 2: 128,596,785 I321N probably damaging Het
Stk32b G A 5: 37,457,232 P311S probably damaging Het
Svs3a T A 2: 164,290,120 S203T probably benign Het
Taf3 A T 2: 9,918,178 I45N probably damaging Het
Taf7 T C 18: 37,643,502 N4S probably benign Het
Tial1 T A 7: 128,444,697 D87V probably damaging Het
Tmem120a T A 5: 135,742,050 E78V probably benign Het
Tmem19 A G 10: 115,347,260 F137L probably benign Het
Tmem55b T C 14: 50,927,916 H278R probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trim30d T C 7: 104,487,929 K23E possibly damaging Het
Ubxn7 C A 16: 32,332,299 H4Q unknown Het
Usp40 C T 1: 87,981,009 R590H probably benign Het
Vmn1r90 A G 7: 14,562,086 M22T possibly damaging Het
Vmn2r1 G A 3: 64,105,117 V800M possibly damaging Het
Vps11 A T 9: 44,356,376 I313N probably damaging Het
Zhx1 A G 15: 58,054,811 V13A probably damaging Het
Zic4 G A 9: 91,378,752 R20H probably benign Het
Zp3r C T 1: 130,582,879 V369M probably damaging Het
Other mutations in Etv4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Etv4 APN 11 101777128 missense possibly damaging 0.94
IGL02281:Etv4 APN 11 101773719 missense probably damaging 1.00
IGL02491:Etv4 APN 11 101783965 critical splice donor site probably null
IGL03221:Etv4 APN 11 101774162 missense probably damaging 1.00
R1539:Etv4 UTSW 11 101771687 critical splice donor site probably null
R1925:Etv4 UTSW 11 101771681 splice site probably benign
R2009:Etv4 UTSW 11 101774237 missense probably damaging 1.00
R2133:Etv4 UTSW 11 101775417 missense probably damaging 0.99
R4133:Etv4 UTSW 11 101770498 missense probably damaging 1.00
R5396:Etv4 UTSW 11 101775341 missense probably damaging 0.99
R5771:Etv4 UTSW 11 101771456 missense probably damaging 1.00
R7256:Etv4 UTSW 11 101784325 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TTTTCAGGGACAATGCAGACATC -3'
(R):5'- AACTTCCCCTGGGATTTAGTGG -3'

Sequencing Primer
(F):5'- ACATCATCTGGGAATGGTCG -3'
(R):5'- CTGGGATTTAGTGGCGGGAAAAG -3'
Posted On2016-11-08