Incidental Mutation 'IGL01636:Etv6'
ID 93017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etv6
Ensembl Gene ENSMUSG00000030199
Gene Name ets variant 6
Synonyms translocation-ets-leukemia, Tel
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01636
Quality Score
Status
Chromosome 6
Chromosomal Location 134012663-134247121 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134225350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 194 (S194P)
Ref Sequence ENSEMBL: ENSMUSP00000079818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081028] [ENSMUST00000111963] [ENSMUST00000164648]
AlphaFold P97360
PDB Structure Intramolecular regulation of the ETS Domain within ETV6 sequence R335 to Q436 [SOLUTION NMR]
Intramolecular regulation of the ETS Domain within ETV6 sequence R335 to R458 [SOLUTION NMR]
Structure of uninhibited ETV6 ETS domain [SOLUTION NMR]
Crystal structure of ETV6 bound to a specific DNA sequence [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000081028
AA Change: S194P

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079818
Gene: ENSMUSG00000030199
AA Change: S194P

DomainStartEndE-ValueType
SAM_PNT 39 125 3.49e-41 SMART
ETS 334 420 7.02e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111963
AA Change: S105P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107594
Gene: ENSMUSG00000030199
AA Change: S105P

DomainStartEndE-ValueType
Pfam:SAM_PNT 1 36 1.3e-10 PFAM
ETS 245 331 7.02e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145869
Predicted Effect probably benign
Transcript: ENSMUST00000164648
SMART Domains Protein: ENSMUSP00000130761
Gene: ENSMUSG00000030199

DomainStartEndE-ValueType
SAM_PNT 38 124 3.49e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204426
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transcriptional repressor belonging to the ETS family of proteins. Knockout of this gene in mice results in embryonic lethality due to defective angiogenesis. In humans, this gene is often involved in chromosome rearrangements associated with specific cancers. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. [provided by MGI curators]
Allele List at MGI

All alleles(134) : Targeted(7) Gene trapped(127)
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrd1 G T 5: 129,219,516 (GRCm39) probably benign Het
Bmp7 T C 2: 172,717,001 (GRCm39) probably benign Het
Ccdc54 A G 16: 50,410,277 (GRCm39) *330Q probably null Het
Chd5 A T 4: 152,469,110 (GRCm39) K1812* probably null Het
Cnga3 T A 1: 37,299,874 (GRCm39) I236N possibly damaging Het
Ddost T G 4: 138,036,707 (GRCm39) D135E possibly damaging Het
Dicer1 T C 12: 104,688,500 (GRCm39) D359G probably damaging Het
Dnah17 A C 11: 117,931,882 (GRCm39) S3697A probably benign Het
Dnttip2 G A 3: 122,076,123 (GRCm39) G685D possibly damaging Het
Dst T G 1: 34,254,650 (GRCm39) S4552R probably damaging Het
Ebf2 G A 14: 67,476,927 (GRCm39) E157K probably damaging Het
Ehbp1 C T 11: 22,039,584 (GRCm39) V839M probably benign Het
Ehmt1 G T 2: 24,729,620 (GRCm39) T639K probably damaging Het
Esyt2 T C 12: 116,329,550 (GRCm39) probably null Het
Fam184b T C 5: 45,741,637 (GRCm39) H198R probably benign Het
Fam210b T C 2: 172,193,460 (GRCm39) F91S probably damaging Het
Fam81a G A 9: 70,006,434 (GRCm39) Q193* probably null Het
Fto A G 8: 92,135,969 (GRCm39) D79G probably damaging Het
Haspin C T 11: 73,028,231 (GRCm39) R286H possibly damaging Het
Hmcn1 C T 1: 150,455,984 (GRCm39) C5312Y probably damaging Het
Ik T A 18: 36,884,254 (GRCm39) D245E possibly damaging Het
Itga1 A G 13: 115,143,484 (GRCm39) V349A possibly damaging Het
Kdm8 T C 7: 125,060,377 (GRCm39) V400A probably damaging Het
Larp1b G T 3: 40,924,913 (GRCm39) R177L probably benign Het
Lifr T G 15: 7,208,499 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,864,959 (GRCm39) L8P possibly damaging Het
Marcksl1 T A 4: 129,408,587 (GRCm39) D55E probably benign Het
Med12 C A X: 100,318,795 (GRCm39) S74R probably damaging Het
Mtarc2 T C 1: 184,564,838 (GRCm39) K231E probably benign Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c35 A T 10: 129,168,752 (GRCm39) M1L probably damaging Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or8k39 G A 2: 86,563,945 (GRCm39) Q4* probably null Het
Orc3 A C 4: 34,595,096 (GRCm39) L233R probably damaging Het
Pik3cd A G 4: 149,738,772 (GRCm39) M715T possibly damaging Het
Prss43 T A 9: 110,656,505 (GRCm39) L64Q possibly damaging Het
Pyroxd2 C A 19: 42,726,771 (GRCm39) G209V probably benign Het
Rab3b A G 4: 108,797,916 (GRCm39) D198G possibly damaging Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Smg6 T C 11: 74,825,929 (GRCm39) probably null Het
Ssrp1 T C 2: 84,871,443 (GRCm39) probably benign Het
Strip2 C A 6: 29,931,192 (GRCm39) T381K probably benign Het
Svep1 A T 4: 58,116,622 (GRCm39) L876Q possibly damaging Het
Tle4 T C 19: 14,429,897 (GRCm39) I625V probably damaging Het
Tnfrsf23 T C 7: 143,233,736 (GRCm39) T81A probably damaging Het
Ttc41 A G 10: 86,612,542 (GRCm39) K1272E probably benign Het
Usp3 A G 9: 66,469,834 (GRCm39) probably null Het
Vmn1r121 C T 7: 20,832,282 (GRCm39) V53M probably benign Het
Vmn1r65 A T 7: 6,011,720 (GRCm39) S171R probably benign Het
Vmn2r4 A T 3: 64,313,657 (GRCm39) D441E probably benign Het
Vps13d A T 4: 144,801,618 (GRCm39) H2353Q probably damaging Het
Vwa8 T C 14: 79,435,794 (GRCm39) S1835P possibly damaging Het
Other mutations in Etv6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Etv6 APN 6 134,225,696 (GRCm39) missense probably benign 0.01
IGL02173:Etv6 APN 6 134,225,690 (GRCm39) missense possibly damaging 0.68
IGL03074:Etv6 APN 6 134,199,888 (GRCm39) missense probably damaging 0.98
R0056:Etv6 UTSW 6 134,225,497 (GRCm39) nonsense probably null
R0295:Etv6 UTSW 6 134,243,238 (GRCm39) missense probably benign 0.31
R2133:Etv6 UTSW 6 134,225,717 (GRCm39) missense possibly damaging 0.92
R3763:Etv6 UTSW 6 134,239,975 (GRCm39) splice site probably benign
R4405:Etv6 UTSW 6 134,210,497 (GRCm39) missense probably damaging 1.00
R6901:Etv6 UTSW 6 134,243,421 (GRCm39) missense probably benign 0.10
R8292:Etv6 UTSW 6 134,225,509 (GRCm39) missense probably benign
R8343:Etv6 UTSW 6 134,225,717 (GRCm39) missense possibly damaging 0.92
R8752:Etv6 UTSW 6 134,243,391 (GRCm39) missense probably benign 0.01
R9562:Etv6 UTSW 6 134,225,672 (GRCm39) missense probably benign 0.28
R9565:Etv6 UTSW 6 134,225,672 (GRCm39) missense probably benign 0.28
R9616:Etv6 UTSW 6 134,243,295 (GRCm39) missense possibly damaging 0.47
R9680:Etv6 UTSW 6 134,013,062 (GRCm39) start gained probably benign
Posted On 2013-12-09