Incidental Mutation 'IGL03251:Elk3'
ID414941
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 #IGL03251
Quality Score
Status
Chromosome10
Chromosomal Location93247414-93311135 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 93254821 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008542] [ENSMUST00000129827] [ENSMUST00000151153] [ENSMUST00000215286] [ENSMUST00000223340]
Predicted Effect probably null
Transcript: ENSMUST00000008542
SMART Domains Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398

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 benign
Transcript: ENSMUST00000129827
SMART Domains Protein: ENSMUSP00000122324
Gene: ENSMUSG00000008398

DomainStartEndE-ValueType
ETS 4 89 1.56e-55 SMART
low complexity region 200 217 N/A INTRINSIC
Predicted Effect probably null
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 null
Transcript: ENSMUST00000223340
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,982,237 probably benign Het
Cdkl2 A G 5: 92,033,726 I132T probably damaging Het
Ckap4 A T 10: 84,528,605 I198N probably damaging Het
Col6a3 C T 1: 90,810,176 R600H probably damaging Het
Dnah7a A G 1: 53,647,274 I239T probably benign Het
Ei24 A G 9: 36,780,109 *359R probably null Het
Eps8l2 T A 7: 141,342,962 M46K probably damaging Het
Frem2 G T 3: 53,572,308 T1988N probably benign Het
Gm5431 T C 11: 48,894,721 K276E probably benign Het
Gm8220 T A 14: 44,288,272 C133S possibly damaging Het
Hectd2 T C 19: 36,585,526 L168P probably damaging Het
Hydin A T 8: 110,490,596 D1372V probably damaging Het
Isl1 T C 13: 116,305,449 S83G probably benign Het
Lrp1b A G 2: 40,600,267 I107T probably benign Het
Mlc1 A T 15: 88,974,731 V117D possibly damaging Het
Ndc1 A G 4: 107,380,659 E220G possibly damaging Het
Nlrp4b T A 7: 10,714,500 M210K probably benign Het
Olfr372 A T 8: 72,058,076 Y132F probably damaging Het
Plch1 T C 3: 63,784,002 E60G possibly damaging Het
Pld1 G A 3: 28,088,665 R674H probably benign Het
Ppp1r13l G A 7: 19,368,869 probably benign Het
Ppp2cb A T 8: 33,610,651 probably benign Het
Rchy1 G T 5: 91,962,643 A26D probably benign Het
Rrm1 T C 7: 102,457,206 F311L probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc24a4 T C 12: 102,222,825 L173P probably damaging Het
Srgap1 T C 10: 121,804,921 probably null Het
Tube1 T A 10: 39,134,981 probably benign Het
Utp20 C T 10: 88,817,326 probably null Het
Vmn2r55 T C 7: 12,671,193 probably benign Het
Other mutations in Elk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Elk3 APN 10 93284827 missense probably damaging 1.00
IGL02566:Elk3 APN 10 93265463 missense probably damaging 1.00
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 On2016-08-02