Incidental Mutation 'IGL00591:Elk3'
ID 4676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elk3
Ensembl Gene ENSMUSG00000008398
Gene Name ELK3, member of ETS oncogene family
Synonyms Sap-2, Net, D430049E23Rik, Erp
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # IGL00591
Quality Score
Status
Chromosome 10
Chromosomal Location 93083276-93146997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93120689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 50 (N50S)
Ref Sequence ENSEMBL: ENSMUSP00000152060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008542] [ENSMUST00000129827] [ENSMUST00000151153] [ENSMUST00000223340]
AlphaFold P41971
Predicted Effect probably damaging
Transcript: ENSMUST00000008542
AA Change: N50S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398
AA Change: N50S

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: N50S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122324
Gene: ENSMUSG00000008398
AA Change: N50S

DomainStartEndE-ValueType
ETS 4 89 1.56e-55 SMART
low complexity region 200 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133365
Predicted Effect probably damaging
Transcript: ENSMUST00000151153
AA Change: N50S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121754
Gene: ENSMUSG00000008398
AA Change: N50S

DomainStartEndE-ValueType
ETS 4 80 7.6e-36 SMART
low complexity region 89 100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223340
AA Change: N50S

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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Csmd3 C T 15: 47,868,279 (GRCm39) C747Y probably damaging Het
Esyt2 T A 12: 116,327,064 (GRCm39) L544H probably damaging Het
Faap20 A G 4: 155,335,067 (GRCm39) N56S probably benign Het
Fnd3c2 T A X: 105,279,597 (GRCm39) Y845F probably damaging Het
Gm1110 C A 9: 26,792,170 (GRCm39) E617* probably null Het
Gpbp1 T C 13: 111,577,284 (GRCm39) D202G probably damaging Het
Hecw1 C T 13: 14,440,565 (GRCm39) G1242R possibly damaging Het
Iqce A T 5: 140,663,883 (GRCm39) L132* probably null Het
Mthfd1 C A 12: 76,347,213 (GRCm39) P550Q possibly damaging Het
Pabpc6 C T 17: 9,887,427 (GRCm39) V375I possibly damaging Het
Sh2d4b G T 14: 40,594,490 (GRCm39) F163L probably benign Het
Sp140 G A 1: 85,549,393 (GRCm39) R208K probably benign Het
Vps13d T C 4: 144,917,129 (GRCm39) T12A possibly damaging Het
Xkr8 A T 4: 132,455,357 (GRCm39) Y339N probably damaging Het
Zfp108 A G 7: 23,960,911 (GRCm39) K501E possibly damaging Het
Other mutations in Elk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20