Incidental Mutation 'R4120:Etv3'
ID 315260
Institutional Source Beutler Lab
Gene Symbol Etv3
Ensembl Gene ENSMUSG00000003382
Gene Name ets variant 3
Synonyms METS, ETS-domain transcriptional repressor, Pe1
MMRRC Submission 040993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4120 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87432891-87447463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87443589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 391 (D391G)
Ref Sequence ENSEMBL: ENSMUSP00000127419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119109] [ENSMUST00000170036]
AlphaFold Q8R4Z4
Predicted Effect probably benign
Transcript: ENSMUST00000119109
AA Change: D391G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112915
Gene: ENSMUSG00000003382
AA Change: D391G

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000170036
AA Change: D391G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127419
Gene: ENSMUSG00000003382
AA Change: D391G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (55/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,133,388 (GRCm39) E1233* probably null Het
Afap1l1 T C 18: 61,872,243 (GRCm39) D526G probably damaging Het
Ago4 A G 4: 126,390,600 (GRCm39) Y807H probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap40 A G 2: 158,374,250 (GRCm39) M222V probably benign Het
Asnsd1 A G 1: 53,387,154 (GRCm39) S158P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Clca3a2 T C 3: 144,516,613 (GRCm39) M328V probably benign Het
Col4a1 G A 8: 11,256,263 (GRCm39) P1535S unknown Het
Dennd2a G A 6: 39,442,030 (GRCm39) R947C probably damaging Het
Dlg2 G A 7: 91,614,846 (GRCm39) V217I probably damaging Het
Dnaaf2 T C 12: 69,244,812 (GRCm39) D83G possibly damaging Het
Dppa5a A T 9: 78,275,137 (GRCm39) M55K possibly damaging Het
Ect2l A G 10: 18,006,466 (GRCm39) V779A probably benign Het
Ehhadh A G 16: 21,581,934 (GRCm39) S353P probably benign Het
Fastkd1 T A 2: 69,537,654 (GRCm39) K309N probably damaging Het
Fip1l1 T A 5: 74,748,852 (GRCm39) Y375N probably damaging Het
Flvcr2 T C 12: 85,832,903 (GRCm39) S308P probably benign Het
Fyco1 T C 9: 123,654,691 (GRCm39) Y1065C probably benign Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Gm17175 A T 14: 51,810,534 (GRCm39) I31N probably damaging Het
Gm6003 T A 7: 32,864,976 (GRCm39) noncoding transcript Het
Gm9951 T C 8: 34,522,993 (GRCm39) noncoding transcript Het
Hspa2 A G 12: 76,452,008 (GRCm39) E234G probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Iqsec1 A T 6: 90,639,584 (GRCm39) Y1065* probably null Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Map2 G A 1: 66,455,063 (GRCm39) A1318T probably damaging Het
Mas1 A T 17: 13,061,233 (GRCm39) N63K probably damaging Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nav3 A G 10: 109,739,605 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,133,359 (GRCm39) noncoding transcript Het
Oca2 A T 7: 55,904,630 (GRCm39) D32V probably damaging Het
Or51v8 T C 7: 103,320,221 (GRCm39) T6A probably benign Het
Or8b9 T C 9: 37,766,705 (GRCm39) L197S possibly damaging Het
Otub2 T C 12: 103,370,489 (GRCm39) V257A probably damaging Het
Pink1 G A 4: 138,042,822 (GRCm39) R461* probably null Het
Plxna2 T C 1: 194,462,935 (GRCm39) C901R probably damaging Het
Ptchd3 T A 11: 121,721,572 (GRCm39) N148K probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Sec13 T C 6: 113,711,637 (GRCm39) N107S probably damaging Het
Slc12a2 A G 18: 58,032,427 (GRCm39) M376V possibly damaging Het
Sp140l2 C T 1: 85,237,542 (GRCm39) V81M possibly damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Stradb T A 1: 59,019,168 (GRCm39) Y30N possibly damaging Het
Syne1 T A 10: 5,359,798 (GRCm39) Q328L probably damaging Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Vmn2r100 T C 17: 19,752,215 (GRCm39) S753P probably damaging Het
Vmn2r129 G T 4: 156,686,778 (GRCm39) noncoding transcript Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp936 A G 7: 42,839,630 (GRCm39) T366A probably benign Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly damaging Het
Other mutations in Etv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Etv3 APN 3 87,443,025 (GRCm39) missense possibly damaging 0.68
IGL02613:Etv3 APN 3 87,443,702 (GRCm39) missense possibly damaging 0.53
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
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
Predicted Primers PCR Primer
(F):5'- CGGTGTTCAACTACCATCTGAG -3'
(R):5'- ACAGACCTGTCCTCACTGTC -3'

Sequencing Primer
(F):5'- TTACCCAGGGCTCATGGTC -3'
(R):5'- GACCTGTCCTCACTGTCTTCGG -3'
Posted On 2015-05-14