Incidental Mutation 'IGL02566:Elk3'
ID298833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elk3
Ensembl Gene ENSMUSG00000008398
Gene NameELK3, member of ETS oncogene family
SynonymsNet, D430049E23Rik, Erp, Sap-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.453) question?
Stock #IGL02566
Quality Score
Status
Chromosome10
Chromosomal Location93247414-93311135 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93265463 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 142 (L142P)
Ref Sequence ENSEMBL: ENSMUSP00000152060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008542] [ENSMUST00000129827] [ENSMUST00000151153] [ENSMUST00000215286] [ENSMUST00000223340]
Predicted Effect probably damaging
Transcript: ENSMUST00000008542
AA Change: L142P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398
AA Change: L142P

DomainStartEndE-ValueType
ETS 4 89 1.56e-55 SMART
low complexity region 200 222 N/A INTRINSIC
low complexity region 229 256 N/A INTRINSIC
low complexity region 278 299 N/A INTRINSIC
low complexity region 356 367 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129827
AA Change: L142P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122324
Gene: ENSMUSG00000008398
AA Change: L142P

DomainStartEndE-ValueType
ETS 4 89 1.56e-55 SMART
low complexity region 200 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151153
SMART Domains Protein: ENSMUSP00000121754
Gene: ENSMUSG00000008398

DomainStartEndE-ValueType
ETS 4 80 7.6e-36 SMART
low complexity region 89 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215286
Predicted Effect probably benign
Transcript: ENSMUST00000216729
Predicted Effect probably damaging
Transcript: ENSMUST00000223340
AA Change: L142P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a null allele develop a vascular defect associated with lymphangiectasis and die prematurely due to respiratory failure resulting from chylothorax. Homozygotes for a different null allele show a transient delay in retinal primary plexus vascularization and tortuous retinal arteries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik C T 7: 118,752,832 A154V probably benign Het
Arl4d A G 11: 101,667,154 S169G probably damaging Het
Bbx A T 16: 50,223,240 probably benign Het
Blm A T 7: 80,474,196 M959K probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyb5d1 T C 11: 69,393,768 N186S probably benign Het
Gk5 G A 9: 96,129,046 D70N possibly damaging Het
Gm11492 T G 11: 87,567,642 S281A probably benign Het
Gpr84 T C 15: 103,308,723 D309G probably benign Het
Greb1l T C 18: 10,503,299 V450A probably damaging Het
Gucy1b1 A G 3: 82,058,329 F70S probably damaging Het
Jmjd4 T A 11: 59,455,054 M320K probably damaging Het
Map10 A G 8: 125,671,755 N629S probably benign Het
Nmd3 G T 3: 69,739,914 probably benign Het
Obscn G T 11: 59,068,147 T3359K probably damaging Het
Olfr31 C A 14: 14,328,138 T9K probably benign Het
Pkhd1l1 A G 15: 44,526,054 probably null Het
Plcb1 T C 2: 135,472,263 F1212L probably benign Het
Rabep1 A G 11: 70,917,714 S459G probably damaging Het
Slc26a1 A G 5: 108,673,799 S75P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sult1d1 A T 5: 87,564,811 L58Q probably damaging Het
Tnrc18 A T 5: 142,772,313 probably benign Het
Zfp442 T C 2: 150,409,791 probably null Het
Other mutations in Elk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Elk3 APN 10 93284827 missense probably damaging 1.00
IGL03251:Elk3 APN 10 93254821 splice site probably null
R0308:Elk3 UTSW 10 93265205 missense probably benign
R0594:Elk3 UTSW 10 93265160 missense probably damaging 1.00
R0601:Elk3 UTSW 10 93265481 missense probably damaging 0.98
R1190:Elk3 UTSW 10 93265196 missense probably benign 0.00
R2021:Elk3 UTSW 10 93265677 missense probably damaging 1.00
R2022:Elk3 UTSW 10 93265677 missense probably damaging 1.00
R2418:Elk3 UTSW 10 93284827 missense probably damaging 1.00
R3935:Elk3 UTSW 10 93265173 missense possibly damaging 0.60
R4167:Elk3 UTSW 10 93265335 critical splice donor site probably null
R4168:Elk3 UTSW 10 93265335 critical splice donor site probably null
R4169:Elk3 UTSW 10 93265335 critical splice donor site probably null
R4170:Elk3 UTSW 10 93265335 critical splice donor site probably null
R5864:Elk3 UTSW 10 93284791 missense probably damaging 1.00
R6171:Elk3 UTSW 10 93250044 missense probably damaging 1.00
R6743:Elk3 UTSW 10 93265050 missense possibly damaging 0.50
Posted On2015-04-16