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

Ncbi RefSeq: NM_007961.3; MGI: 109336

Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01636
Quality Score
Status
Chromosome 6
Chromosomal Location 134035700-134270158 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134248387 bp (GRCm38)
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 Strain: 2177950; 3056143
Lethality: E11-E14
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: 81,419,949 T633A possibly damaging Het
Adgrd1 G T 5: 129,142,452 probably benign Het
Bmp7 T C 2: 172,875,208 probably benign Het
Ccdc54 A G 16: 50,589,914 *330Q probably null Het
Chd5 A T 4: 152,384,653 K1812* probably null Het
Cnga3 T A 1: 37,260,793 I236N possibly damaging Het
Ddost T G 4: 138,309,396 D135E possibly damaging Het
Dicer1 T C 12: 104,722,241 D359G probably damaging Het
Dnah17 A C 11: 118,041,056 S3697A probably benign Het
Dnttip2 G A 3: 122,282,474 G685D possibly damaging Het
Dst T G 1: 34,215,569 S4552R probably damaging Het
Ebf2 G A 14: 67,239,478 E157K probably damaging Het
Ehbp1 C T 11: 22,089,584 V839M probably benign Het
Ehmt1 G T 2: 24,839,608 T639K probably damaging Het
Esyt2 T C 12: 116,365,930 probably null Het
Fam184b T C 5: 45,584,295 H198R probably benign Het
Fam210b T C 2: 172,351,540 F91S probably damaging Het
Fam81a G A 9: 70,099,152 Q193* probably null Het
Fto A G 8: 91,409,341 D79G probably damaging Het
Haspin C T 11: 73,137,405 R286H possibly damaging Het
Hmcn1 C T 1: 150,580,233 C5312Y probably damaging Het
Ik T A 18: 36,751,201 D245E possibly damaging Het
Itga1 A G 13: 115,006,948 V349A possibly damaging Het
Kdm8 T C 7: 125,461,205 V400A probably damaging Het
Larp1b G T 3: 40,970,478 R177L probably benign Het
Lifr T G 15: 7,179,018 probably benign Het
Lrrn2 T C 1: 132,937,221 L8P possibly damaging Het
Marc2 T C 1: 184,832,641 K231E probably benign Het
Marcksl1 T A 4: 129,514,794 D55E probably benign Het
Med12 C A X: 101,275,189 S74R probably damaging Het
Olfr1089 G A 2: 86,733,601 Q4* probably null Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr781 A T 10: 129,332,883 M1L probably damaging Het
Olfr862 A G 9: 19,884,188 V39A probably benign Het
Orc3 A C 4: 34,595,096 L233R probably damaging Het
Pik3cd A G 4: 149,654,315 M715T possibly damaging Het
Prss43 T A 9: 110,827,437 L64Q possibly damaging Het
Pyroxd2 C A 19: 42,738,332 G209V probably benign Het
Rab3b A G 4: 108,940,719 D198G possibly damaging Het
Rrbp1 A T 2: 143,947,895 probably benign Het
Smg6 T C 11: 74,935,103 probably null Het
Ssrp1 T C 2: 85,041,099 probably benign Het
Strip2 C A 6: 29,931,193 T381K probably benign Het
Svep1 A T 4: 58,116,622 L876Q possibly damaging Het
Tle4 T C 19: 14,452,533 I625V probably damaging Het
Tnfrsf23 T C 7: 143,679,999 T81A probably damaging Het
Ttc41 A G 10: 86,776,678 K1272E probably benign Het
Usp3 A G 9: 66,562,552 probably null Het
Vmn1r121 C T 7: 21,098,357 V53M probably benign Het
Vmn1r65 A T 7: 6,008,721 S171R probably benign Het
Vmn2r4 A T 3: 64,406,236 D441E probably benign Het
Vps13d A T 4: 145,075,048 H2353Q probably damaging Het
Vwa8 T C 14: 79,198,354 S1835P possibly damaging Het
Other mutations in Etv6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Etv6 APN 6 134248733 missense probably benign 0.01
IGL02173:Etv6 APN 6 134248727 missense possibly damaging 0.68
IGL03074:Etv6 APN 6 134222925 missense probably damaging 0.98
R0056:Etv6 UTSW 6 134248534 nonsense probably null
R0295:Etv6 UTSW 6 134266275 missense probably benign 0.31
R2133:Etv6 UTSW 6 134248754 missense possibly damaging 0.92
R3763:Etv6 UTSW 6 134263012 splice site probably benign
R4405:Etv6 UTSW 6 134233534 missense probably damaging 1.00
R6901:Etv6 UTSW 6 134266458 missense probably benign 0.10
R8292:Etv6 UTSW 6 134248546 missense probably benign
R8343:Etv6 UTSW 6 134248754 missense possibly damaging 0.92
R8752:Etv6 UTSW 6 134266428 missense probably benign 0.01
Posted On 2013-12-09