Incidental Mutation 'R6171:Elk3'
ID 490449
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 044314-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R6171 (G1)
Quality Score 184.009
Status Validated
Chromosome 10
Chromosomal Location 93083276-93146997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93085906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 132 (P132Q)
Ref Sequence ENSEMBL: ENSMUSP00000121754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008542] [ENSMUST00000129827] [ENSMUST00000151153] [ENSMUST00000215286] [ENSMUST00000223340]
AlphaFold P41971
Predicted Effect probably damaging
Transcript: ENSMUST00000008542
AA Change: P399Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398
AA Change: P399Q

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 damaging
Transcript: ENSMUST00000151153
AA Change: P132Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121754
Gene: ENSMUSG00000008398
AA Change: P132Q

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs A G 4: 126,211,110 (GRCm39) V269A probably damaging Het
Atp11a T A 8: 12,882,663 (GRCm39) V517D probably damaging Het
Atr C T 9: 95,763,324 (GRCm39) Q1073* probably null Het
C87436 A C 6: 86,422,449 (GRCm39) T8P probably benign Het
Clasrp T C 7: 19,318,747 (GRCm39) probably benign Het
Creb3l1 G T 2: 91,821,614 (GRCm39) Q254K probably damaging Het
Dapl1 C A 2: 59,326,946 (GRCm39) T64K probably benign Het
Dnah2 A T 11: 69,313,868 (GRCm39) L4168Q probably damaging Het
Dnttip2 T A 3: 122,072,511 (GRCm39) I597N probably damaging Het
Dyrk1b A T 7: 27,885,975 (GRCm39) probably null Het
Galt C T 4: 41,757,541 (GRCm39) P238S probably damaging Het
Gm10322 T C 10: 59,452,084 (GRCm39) V67A possibly damaging Het
Ice1 T C 13: 70,754,850 (GRCm39) Y412C probably benign Het
Kcna1 A T 6: 126,619,286 (GRCm39) Y345N probably damaging Het
Kif1b T C 4: 149,342,505 (GRCm39) Y419C probably damaging Het
Klf15 G T 6: 90,443,601 (GRCm39) A59S possibly damaging Het
Mettl17 T A 14: 52,126,236 (GRCm39) Y162N probably damaging Het
Myh10 G A 11: 68,682,716 (GRCm39) R1050Q probably damaging Het
Nek4 T C 14: 30,692,304 (GRCm39) V376A probably benign Het
Nemp1 T A 10: 127,525,319 (GRCm39) probably null Het
Nlrp9a T C 7: 26,258,188 (GRCm39) I602T possibly damaging Het
Nphp4 T C 4: 152,628,906 (GRCm39) V764A probably damaging Het
Or12e1 T A 2: 87,022,709 (GRCm39) V226E possibly damaging Het
Or8c17 C T 9: 38,179,898 (GRCm39) Q22* probably null Het
Osbp2 A T 11: 3,667,221 (GRCm39) probably null Het
Pax2 A G 19: 44,779,179 (GRCm39) Y185C probably damaging Het
Pdyn A T 2: 129,530,268 (GRCm39) S134T possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Ppp1r13l A G 7: 19,111,436 (GRCm39) M754V probably benign Het
Prr23a3 T A 9: 98,747,731 (GRCm39) N228K probably benign Het
Psmd12 T C 11: 107,382,733 (GRCm39) F213L probably damaging Het
Qser1 A T 2: 104,619,628 (GRCm39) S395T probably damaging Het
Rab7b A G 1: 131,626,372 (GRCm39) probably null Het
Rev3l T A 10: 39,738,709 (GRCm39) L2821* probably null Het
Rplp0 A G 5: 115,699,219 (GRCm39) N127S probably benign Het
Serpina9 G T 12: 103,974,678 (GRCm39) Y158* probably null Het
Sis G A 3: 72,868,360 (GRCm39) T110M possibly damaging Het
Slc43a2 A G 11: 75,453,876 (GRCm39) Y263C probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stard13 A T 5: 151,016,227 (GRCm39) V88E probably damaging Het
Trim29 G A 9: 43,230,674 (GRCm39) E286K probably damaging Het
Vmn2r24 T C 6: 123,764,205 (GRCm39) S361P probably damaging Het
Wnk2 T C 13: 49,214,308 (GRCm39) T18A probably damaging Het
Xylb C T 9: 119,210,657 (GRCm39) T380M probably damaging Het
Zbtb5 T C 4: 44,994,119 (GRCm39) T422A probably benign Het
Zhx2 A G 15: 57,686,602 (GRCm39) E657G 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
R1190:Elk3 UTSW 10 93,101,058 (GRCm39) missense probably benign 0.00
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
R6743:Elk3 UTSW 10 93,100,912 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TCCATGTTACGAAAAGTGCAAACC -3'
(R):5'- AATAGGGGCATTTTCTGGGCC -3'

Sequencing Primer
(F):5'- CAAATGAACCAGGTTTCACAATGTC -3'
(R):5'- GGTAACCTTTGTAAAGCAACTCAGC -3'
Posted On 2017-10-10