Incidental Mutation 'IGL00835:Etv2'
ID 12608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etv2
Ensembl Gene ENSMUSG00000006311
Gene Name ets variant 2
Synonyms Etsrp71
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00835
Quality Score
Status
Chromosome 7
Chromosomal Location 30333041-30335277 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30333092 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P41163
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: 71,341,892 (GRCm39) D1023G probably damaging Het
Agbl3 A G 6: 34,776,667 (GRCm39) D391G probably damaging Het
Aggf1 C A 13: 95,498,985 (GRCm39) V450F probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Creb3l4 T A 3: 90,149,294 (GRCm39) H138L possibly damaging Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Ctsb T A 14: 63,373,099 (GRCm39) D85E probably damaging Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Fkbp1b C T 12: 4,883,726 (GRCm39) G90S probably damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrfip1 C T 1: 91,043,140 (GRCm39) T515I possibly damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Etv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0144:Etv2 UTSW 7 30,334,308 (GRCm39) missense probably benign 0.13
R0416:Etv2 UTSW 7 30,334,058 (GRCm39) missense probably benign 0.01
R6216:Etv2 UTSW 7 30,334,036 (GRCm39) critical splice donor site probably null
R6812:Etv2 UTSW 7 30,333,426 (GRCm39) nonsense probably null
R6972:Etv2 UTSW 7 30,334,167 (GRCm39) missense probably benign 0.00
R6973:Etv2 UTSW 7 30,334,167 (GRCm39) missense probably benign 0.00
R7180:Etv2 UTSW 7 30,335,074 (GRCm39) missense probably damaging 1.00
R7236:Etv2 UTSW 7 30,334,455 (GRCm39) missense probably benign 0.08
Posted On 2012-12-06