Incidental Mutation 'IGL02698:Etv3'
ID304039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etv3
Ensembl Gene ENSMUSG00000003382
Gene Nameets variant 3
SynonymsETS-domain transcriptional repressor, Pe1, METS
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02698
Quality Score
Status
Chromosome3
Chromosomal Location87525407-87540156 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87536578 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 490 (T490A)
Ref Sequence ENSEMBL: ENSMUSP00000127419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119109] [ENSMUST00000170036]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119109
AA Change: T490A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112915
Gene: ENSMUSG00000003382
AA Change: T490A

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 possibly damaging
Transcript: ENSMUST00000170036
AA Change: T490A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127419
Gene: ENSMUSG00000003382
AA Change: T490A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,185,744 probably benign Het
Car8 A T 4: 8,185,598 I186N probably benign Het
Ccdc174 G A 6: 91,890,853 S183N probably benign Het
Ccdc66 T A 14: 27,490,792 K525* probably null Het
Cebpz A G 17: 78,935,574 V217A probably benign Het
Cfap36 C A 11: 29,247,014 probably null Het
Cpne4 T C 9: 105,032,785 V527A probably damaging Het
Crh T G 3: 19,694,190 D96A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcp1a A T 14: 30,505,542 probably benign Het
Ddhd1 A T 14: 45,605,206 probably benign Het
Dis3l2 C T 1: 87,048,829 probably benign Het
Dopey1 T C 9: 86,524,359 probably benign Het
Fastkd2 A G 1: 63,747,999 T531A probably benign Het
Fat1 C T 8: 45,023,164 A1749V probably benign Het
Fgfr1 T A 8: 25,573,608 L761* probably null Het
Gcc2 A G 10: 58,271,290 K683E possibly damaging Het
Gm17677 T C 9: 35,741,120 probably benign Het
Gm5117 C T 8: 31,739,739 noncoding transcript Het
Hif1a T C 12: 73,930,771 probably null Het
Inha A G 1: 75,509,883 E274G probably damaging Het
Itih2 G T 2: 10,130,501 P26H probably damaging Het
Kif23 G A 9: 61,925,001 T620I possibly damaging Het
Klhl30 T C 1: 91,353,707 F10S probably damaging Het
Kmt2b T C 7: 30,578,693 probably benign Het
Lmf2 A C 15: 89,354,154 L174R probably damaging Het
Med13l T C 5: 118,762,829 L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 L257F probably damaging Het
Net1 A G 13: 3,887,569 probably null Het
Nfasc A G 1: 132,634,737 V100A probably benign Het
Nr4a2 A G 2: 57,108,160 F535S probably damaging Het
Ntn4 G T 10: 93,644,659 A45S probably benign Het
Olfr1141 T A 2: 87,753,844 K50* probably null Het
Olfr1197 T A 2: 88,729,471 I43F probably damaging Het
Olfr1386 T A 11: 49,470,863 F237L probably benign Het
Olfr243 T C 7: 103,717,278 V228A probably damaging Het
Olfr25 A G 9: 38,330,210 T208A probably benign Het
Pappa A T 4: 65,181,020 E592V probably damaging Het
Pi4ka A T 16: 17,291,168 I1630N probably damaging Het
Ptprb A G 10: 116,363,280 D1997G probably benign Het
Rc3h2 A T 2: 37,405,300 S235T probably damaging Het
S1pr1 T A 3: 115,712,097 K283* probably null Het
Scn5a T A 9: 119,521,097 T904S probably damaging Het
Sema6d T C 2: 124,653,723 L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 S83A possibly damaging Het
Slco1a6 C A 6: 142,103,011 G348* probably null Het
Srgap3 C T 6: 112,746,928 V524I probably damaging Het
Stxbp3-ps A T 19: 9,558,324 noncoding transcript Het
Sv2b C T 7: 75,140,978 probably null Het
Sympk T C 7: 19,045,634 I663T probably benign Het
Ttn C A 2: 76,944,771 V1976L probably damaging Het
Uqcrc1 T C 9: 108,947,943 probably null Het
Vmn2r111 T C 17: 22,571,245 Y260C probably damaging Het
Other mutations in Etv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Etv3 APN 3 87535718 missense possibly damaging 0.68
IGL02613:Etv3 APN 3 87536395 missense possibly damaging 0.53
R0056:Etv3 UTSW 3 87535828 missense possibly damaging 0.86
R2074:Etv3 UTSW 3 87536219 missense probably benign
R2104:Etv3 UTSW 3 87536062 missense possibly damaging 0.53
R4120:Etv3 UTSW 3 87536282 missense probably benign 0.00
R4923:Etv3 UTSW 3 87535916 missense possibly damaging 0.96
R4960:Etv3 UTSW 3 87528061 missense probably damaging 1.00
R5642:Etv3 UTSW 3 87536015 missense possibly damaging 0.96
R5907:Etv3 UTSW 3 87535543 missense probably benign 0.23
R6020:Etv3 UTSW 3 87529364 missense probably benign
R6882:Etv3 UTSW 3 87529270 missense probably damaging 1.00
Posted On2015-04-16