Incidental Mutation 'R1190:Elk3'
ID 100741
Institutional Source Beutler Lab
Gene Symbol Elk3
Ensembl Gene ENSMUSG00000008398
Gene Name ELK3, member of ETS oncogene family
Synonyms Sap-2, Net, D430049E23Rik, Erp
MMRRC Submission 039262-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # R1190 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 93083276-93146997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93101058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 231 (N231S)
Ref Sequence ENSEMBL: ENSMUSP00000008542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008542] [ENSMUST00000129827] [ENSMUST00000151153] [ENSMUST00000215286] [ENSMUST00000223340]
AlphaFold P41971
Predicted Effect probably benign
Transcript: ENSMUST00000008542
AA Change: N231S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398
AA Change: N231S

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 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 benign
Transcript: ENSMUST00000223340
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl T C 14: 33,791,207 (GRCm39) F367L probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Dnah17 G A 11: 117,933,001 (GRCm39) R3586W probably damaging Het
Dpysl2 A G 14: 67,061,850 (GRCm39) V252A probably benign Het
Dus2 T C 8: 106,771,497 (GRCm39) S208P possibly damaging Het
Ephx1 A T 1: 180,821,494 (GRCm39) M280K probably benign Het
Fstl4 T C 11: 52,959,373 (GRCm39) M138T probably benign Het
Iqsec1 A T 6: 90,666,659 (GRCm39) Y593N probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lep G T 6: 29,071,173 (GRCm39) E166* probably null Het
Limch1 A G 5: 67,126,540 (GRCm39) D56G probably damaging Het
Or4d10c G T 19: 12,066,051 (GRCm39) T35K possibly damaging Het
Pkn2 A T 3: 142,517,286 (GRCm39) probably null Het
Plxna4 A G 6: 32,228,071 (GRCm39) Y512H probably damaging Het
Tekt1 A T 11: 72,246,039 (GRCm39) I161N probably damaging Het
Tex14 T G 11: 87,385,934 (GRCm39) probably null Het
Trpc3 T C 3: 36,725,497 (GRCm39) N160D probably benign Het
Zfp369 T C 13: 65,440,107 (GRCm39) S264P probably damaging Het
Zfp747 G A 7: 126,973,726 (GRCm39) A148V probably damaging Het
Other mutations in Elk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Elk3 APN 10 93,120,689 (GRCm39) missense probably damaging 1.00
IGL02566:Elk3 APN 10 93,101,325 (GRCm39) missense probably damaging 1.00
IGL03251:Elk3 APN 10 93,090,683 (GRCm39) splice site probably null
R0308:Elk3 UTSW 10 93,101,067 (GRCm39) missense probably benign
R0594:Elk3 UTSW 10 93,101,022 (GRCm39) missense probably damaging 1.00
R0601:Elk3 UTSW 10 93,101,343 (GRCm39) missense probably damaging 0.98
R2021:Elk3 UTSW 10 93,101,539 (GRCm39) missense probably damaging 1.00
R2022:Elk3 UTSW 10 93,101,539 (GRCm39) missense probably damaging 1.00
R2418:Elk3 UTSW 10 93,120,689 (GRCm39) missense probably damaging 1.00
R3935:Elk3 UTSW 10 93,101,035 (GRCm39) missense possibly damaging 0.60
R4167:Elk3 UTSW 10 93,101,197 (GRCm39) critical splice donor site probably null
R4168:Elk3 UTSW 10 93,101,197 (GRCm39) critical splice donor site probably null
R4169:Elk3 UTSW 10 93,101,197 (GRCm39) critical splice donor site probably null
R4170:Elk3 UTSW 10 93,101,197 (GRCm39) critical splice donor site probably null
R5864:Elk3 UTSW 10 93,120,653 (GRCm39) missense probably damaging 1.00
R6171:Elk3 UTSW 10 93,085,906 (GRCm39) missense probably damaging 1.00
R6743:Elk3 UTSW 10 93,100,912 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TTGGAGCCCGATGACAGATTCAGG -3'
(R):5'- TGTCCTCTCTCAAAAGTGCCAGCC -3'

Sequencing Primer
(F):5'- GGGCTCCAGAGAATCCGAG -3'
(R):5'- AGCCCTGTGATGACAGTCC -3'
Posted On 2014-01-15