Incidental Mutation 'R8472:Etv4'
ID 657088
Institutional Source Beutler Lab
Gene Symbol Etv4
Ensembl Gene ENSMUSG00000017724
Gene Name ets variant 4
Synonyms Pea-3, Pea3
MMRRC Submission 067916-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.587) question?
Stock # R8472 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101660568-101676197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101674827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 56 (D56E)
Ref Sequence ENSEMBL: ENSMUSP00000129261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017868] [ENSMUST00000107176] [ENSMUST00000164750]
AlphaFold P28322
Predicted Effect probably damaging
Transcript: ENSMUST00000017868
AA Change: D56E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017868
Gene: ENSMUSG00000017724
AA Change: D56E

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 5 341 6.5e-121 PFAM
ETS 342 427 2.4e-56 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107176
AA Change: D56E

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102794
Gene: ENSMUSG00000017724
AA Change: D56E

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 6 335 2.7e-118 PFAM
ETS 336 421 2.4e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164750
AA Change: D56E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129261
Gene: ENSMUSG00000017724
AA Change: D56E

DomainStartEndE-ValueType
Pfam:ETS_PEA3_N 6 340 5.1e-121 PFAM
ETS 341 426 2.4e-56 SMART
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,568 (GRCm39) H21Q possibly damaging Het
Ccdc7a A G 8: 129,754,138 (GRCm39) S152P probably damaging Het
Ccnj T C 19: 40,833,608 (GRCm39) S222P probably damaging Het
Cdcp2 C T 4: 106,959,981 (GRCm39) A132V probably damaging Het
Cnksr3 G T 10: 7,084,532 (GRCm39) P71Q probably damaging Het
Col9a3 C T 2: 180,247,057 (GRCm39) P185L probably damaging Het
Cpm T C 10: 117,515,883 (GRCm39) V319A probably damaging Het
Ctxn2 A G 2: 124,989,528 (GRCm39) I52V possibly damaging Het
Cyp2c66 A T 19: 39,165,021 (GRCm39) H334L probably benign Het
Dab1 A G 4: 104,336,439 (GRCm39) K12E possibly damaging Het
Efcab3 A T 11: 104,709,463 (GRCm39) D1815V probably benign Het
Emsy T C 7: 98,304,037 (GRCm39) probably benign Het
Exoc3l2 C T 7: 19,215,190 (GRCm39) R484* probably null Het
Extl1 A G 4: 134,098,603 (GRCm39) C143R probably benign Het
Fat3 T C 9: 16,286,563 (GRCm39) I987V possibly damaging Het
Fbn1 A C 2: 125,151,722 (GRCm39) C2511G probably damaging Het
Fer T A 17: 64,280,144 (GRCm39) S72T probably benign Het
Gdf2 A G 14: 33,666,797 (GRCm39) D173G probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Gria1 A T 11: 57,218,410 (GRCm39) M819L probably benign Het
Gsap A T 5: 21,427,432 (GRCm39) R187* probably null Het
Heatr6 A G 11: 83,656,679 (GRCm39) N314D probably benign Het
Hspd1 T C 1: 55,117,505 (GRCm39) D555G probably benign Het
Ighv3-4 T C 12: 114,217,649 (GRCm39) Y8C probably benign Het
Lcmt2 A G 2: 120,970,729 (GRCm39) V118A probably damaging Het
Lmf2 T C 15: 89,239,005 (GRCm39) E37G possibly damaging Het
Macf1 A G 4: 123,346,795 (GRCm39) L1161P probably damaging Het
Mbip T A 12: 56,377,054 (GRCm39) probably null Het
Mgam A T 6: 40,671,460 (GRCm39) probably null Het
Mmrn1 G A 6: 60,965,380 (GRCm39) S1136N probably damaging Het
Mms22l T C 4: 24,502,943 (GRCm39) V73A possibly damaging Het
Mtbp C T 15: 55,449,748 (GRCm39) L24F probably damaging Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 A G 14: 69,429,507 (GRCm39) N175S probably damaging Het
Nlrp4f A G 13: 65,342,145 (GRCm39) I500T possibly damaging Het
Or10a3 T A 7: 108,479,973 (GRCm39) Q280L possibly damaging Het
Or1e1f C T 11: 73,856,223 (GRCm39) S263L possibly damaging Het
Or6c33 A G 10: 129,853,445 (GRCm39) T72A probably damaging Het
Pcdha2 A G 18: 37,074,325 (GRCm39) D652G probably damaging Het
Pde6a T A 18: 61,354,018 (GRCm39) N114K probably damaging Het
Pdp2 A G 8: 105,320,913 (GRCm39) E254G probably benign Het
Pip5kl1 T C 2: 32,470,018 (GRCm39) V241A probably benign Het
Prkdc T A 16: 15,469,400 (GRCm39) D168E probably damaging Het
Psg27 A T 7: 18,296,015 (GRCm39) H143Q probably benign Het
Serpina16 T A 12: 103,638,796 (GRCm39) I264F probably benign Het
Slc25a41 G A 17: 57,348,582 (GRCm39) H4Y probably benign Het
Slco1a8 T G 6: 141,949,115 (GRCm39) H87P probably damaging Het
Smc3 T G 19: 53,617,142 (GRCm39) H518Q probably benign Het
Snrpb G T 2: 130,015,042 (GRCm39) T158K probably damaging Het
Sobp A G 10: 42,898,392 (GRCm39) F398L probably damaging Het
Spidr T A 16: 15,958,591 (GRCm39) Q57L probably benign Het
Srd5a3 T G 5: 76,297,648 (GRCm39) V26G possibly damaging Het
Stx17 A G 4: 48,166,972 (GRCm39) T131A probably benign Het
Susd1 A G 4: 59,332,985 (GRCm39) L553P possibly damaging Het
Tbc1d30 C A 10: 121,187,009 (GRCm39) G59C probably benign Het
Tekt1 T C 11: 72,242,850 (GRCm39) D219G possibly damaging Het
Trav9d-1 A T 14: 53,030,163 (GRCm39) D89V possibly damaging Het
Trim34b T C 7: 103,980,545 (GRCm39) I211T probably benign Het
Vmn1r25 A T 6: 57,955,531 (GRCm39) L253M possibly damaging Het
Vmn1r56 C T 7: 5,198,904 (GRCm39) V238M probably damaging Het
Wipf3 A G 6: 54,466,070 (GRCm39) I443V probably benign Het
Other mutations in Etv4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGGCCTAGTTATACAAGCCTGG -3'
(R):5'- CCCAAAGCCTTATCCTGGAC -3'

Sequencing Primer
(F):5'- ATATCGATATGTGTCCACACTGGGC -3'
(R):5'- AAAGCCTTATCCTGGACTTCCC -3'
Posted On 2021-01-18