Incidental Mutation 'IGL00835:Etv2'
ID12608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etv2
Ensembl Gene ENSMUSG00000006311
Gene Nameets variant 2
SynonymsEtsrp71
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00835
Quality Score
Status
Chromosome7
Chromosomal Location30633616-30635852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30633667 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 325 (D325E)
Ref Sequence ENSEMBL: ENSMUSP00000103782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108147]
Predicted Effect probably benign
Transcript: ENSMUST00000108147
AA Change: D325E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103782
Gene: ENSMUSG00000006311
AA Change: D325E

DomainStartEndE-ValueType
low complexity region 102 114 N/A INTRINSIC
ETS 233 318 4.77e-51 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for null alleles die during organogenesis and lack blood vessels. In addition, mice homozygous for one allele lack endocardial cells, while mice homozygous for another allele lack blood cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Ctsb T A 14: 63,135,650 D85E probably damaging Het
Fggy T A 4: 95,837,628 I335N possibly damaging Het
Fkbp1b C T 12: 4,833,726 G90S probably damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Gsg1 A T 6: 135,244,092 M103K possibly damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Lrrtm2 T A 18: 35,214,239 L3F probably benign Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Trh T C 6: 92,242,789 E182G probably benign Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Etv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0144:Etv2 UTSW 7 30634883 missense probably benign 0.13
R0416:Etv2 UTSW 7 30634633 missense probably benign 0.01
R6216:Etv2 UTSW 7 30634611 critical splice donor site probably null
R6812:Etv2 UTSW 7 30634001 nonsense probably null
R6972:Etv2 UTSW 7 30634742 missense probably benign 0.00
R6973:Etv2 UTSW 7 30634742 missense probably benign 0.00
R7180:Etv2 UTSW 7 30635649 missense probably damaging 1.00
R7236:Etv2 UTSW 7 30635030 missense probably benign 0.08
Posted On2012-12-06