Incidental Mutation 'IGL02613:Etv3'
ID 300568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etv3
Ensembl Gene ENSMUSG00000003382
Gene Name ets variant 3
Synonyms ETS-domain transcriptional repressor, Pe1, METS
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02613
Quality Score
Status
Chromosome 3
Chromosomal Location 87525407-87540156 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87536395 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 429 (T429A)
Ref Sequence ENSEMBL: ENSMUSP00000127419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119109] [ENSMUST00000170036]
AlphaFold Q8R4Z4
Predicted Effect possibly damaging
Transcript: ENSMUST00000119109
AA Change: T429A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112915
Gene: ENSMUSG00000003382
AA Change: T429A

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: T429A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127419
Gene: ENSMUSG00000003382
AA Change: T429A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,783,984 I549L possibly damaging Het
Arhgef17 A T 7: 100,928,896 H948Q probably damaging Het
Auh A G 13: 52,918,999 probably null Het
Btf3 A G 13: 98,310,206 probably benign Het
Capg A G 6: 72,555,611 N53S probably damaging Het
Cfap70 T C 14: 20,409,064 probably null Het
Chrna5 A T 9: 55,006,421 E417V probably damaging Het
Coch A G 12: 51,595,349 T35A possibly damaging Het
Dock4 T A 12: 40,810,466 L1284M probably damaging Het
Fmnl2 T C 2: 53,073,735 probably null Het
Glb1 A G 9: 114,464,062 T502A possibly damaging Het
Greb1 C A 12: 16,739,888 probably null Het
Hspg2 A G 4: 137,544,420 Y2499C probably damaging Het
Kcnq1 A T 7: 143,426,126 probably benign Het
Lrriq1 A G 10: 103,144,548 S1497P probably damaging Het
Magel2 G A 7: 62,380,198 R950H unknown Het
Mcc A G 18: 44,429,954 L982P probably damaging Het
Naif1 T A 2: 32,455,160 M292K possibly damaging Het
Npb T A 11: 120,608,890 C99S probably damaging Het
Obscn G T 11: 59,002,132 R6763S probably benign Het
Olfr477 C T 7: 107,991,174 Q270* probably null Het
Olfr532 A G 7: 140,419,470 V101A probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pitpnm3 A T 11: 72,058,072 S736T probably damaging Het
Polr1a A T 6: 71,967,320 E1257V probably damaging Het
Sec63 G A 10: 42,801,707 D270N probably damaging Het
Snrnp200 C T 2: 127,218,426 T530I probably damaging Het
Sorbs1 A T 19: 40,327,547 N383K probably damaging Het
Syk G A 13: 52,643,040 G546R probably damaging Het
Tfap2d T A 1: 19,119,191 L265Q probably damaging Het
Trav12-1 C T 14: 53,538,285 S9L possibly damaging Het
Trerf1 T C 17: 47,348,840 noncoding transcript Het
Ttn T A 2: 76,728,360 I29726L possibly damaging Het
Usp18 A G 6: 121,261,090 T143A probably benign Het
Usp32 A T 11: 85,040,070 N511K probably damaging Het
Wdr64 C T 1: 175,767,047 Q4* probably null Het
Zfp277 A G 12: 40,329,515 F340S probably damaging Het
Other mutations in Etv3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Etv3 APN 3 87535718 missense possibly damaging 0.68
IGL02698:Etv3 APN 3 87536578 missense possibly damaging 0.53
Rodeo UTSW 3 87536031 nonsense probably null
Schooled UTSW 3 87529270 missense probably damaging 1.00
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
R7515:Etv3 UTSW 3 87528056 missense possibly damaging 0.58
R7570:Etv3 UTSW 3 87536031 nonsense probably null
R8340:Etv3 UTSW 3 87536549 missense possibly damaging 0.85
R8690:Etv3 UTSW 3 87536479 missense possibly damaging 0.93
R9664:Etv3 UTSW 3 87535865 missense probably benign 0.33
Posted On 2015-04-16