Incidental Mutation 'IGL02503:Elk4'
ID 296165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elk4
Ensembl Gene ENSMUSG00000026436
Gene Name ELK4, member of ETS oncogene family
Synonyms Sap1, A130026I01Rik, 2310011G17Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02503
Quality Score
Status
Chromosome 1
Chromosomal Location 131935129-131954186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131942277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 50 (N50D)
Ref Sequence ENSEMBL: ENSMUSP00000118880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027696] [ENSMUST00000086556] [ENSMUST00000146432]
AlphaFold P41158
Predicted Effect probably damaging
Transcript: ENSMUST00000027696
AA Change: N50D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
AA Change: N50D

DomainStartEndE-ValueType
ETS 4 89 4.95e-58 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 208 219 N/A INTRINSIC
low complexity region 245 264 N/A INTRINSIC
low complexity region 335 348 N/A INTRINSIC
low complexity region 360 373 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000086556
AA Change: N50D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
AA Change: N50D

DomainStartEndE-ValueType
ETS 4 89 4.95e-58 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 208 219 N/A INTRINSIC
low complexity region 245 264 N/A INTRINSIC
low complexity region 335 348 N/A INTRINSIC
low complexity region 360 373 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146188
Predicted Effect probably damaging
Transcript: ENSMUST00000146432
AA Change: N50D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118880
Gene: ENSMUSG00000026436
AA Change: N50D

DomainStartEndE-ValueType
ETS 4 89 4.95e-58 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 208 219 N/A INTRINSIC
low complexity region 245 264 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191034
Predicted Effect probably benign
Transcript: ENSMUST00000147218
SMART Domains Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 105 124 N/A INTRINSIC
low complexity region 195 208 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
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 is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this locus impairs thymocyte positive selection and results in reduced numbers of single-positive thymocytes and peripheral T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,008,962 (GRCm39) W822R probably damaging Het
Ago4 A T 4: 126,390,598 (GRCm39) Y807* probably null Het
Alkbh8 G A 9: 3,347,852 (GRCm39) G215D probably damaging Het
Cfap57 C T 4: 118,426,545 (GRCm39) probably null Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Cyp4f17 T C 17: 32,743,940 (GRCm39) probably null Het
Dapk1 T A 13: 60,909,621 (GRCm39) Y1411* probably null Het
Dmrtc1b T A X: 101,758,366 (GRCm39) S199T possibly damaging Het
Filip1l T A 16: 57,391,938 (GRCm39) V604E probably benign Het
Fmo3 A T 1: 162,796,433 (GRCm39) H46Q probably benign Het
Fndc1 T A 17: 7,990,348 (GRCm39) Y1116F unknown Het
Fpr-rs3 T A 17: 20,844,817 (GRCm39) N108I probably damaging Het
Glmn A T 5: 107,710,644 (GRCm39) M316K probably damaging Het
Gm5591 C A 7: 38,219,433 (GRCm39) R480I probably damaging Het
Gm8122 G T 14: 43,092,645 (GRCm39) R39S unknown Het
Gprasp1 T A X: 134,703,279 (GRCm39) Y1157* probably null Het
H2bc21 A G 3: 96,128,539 (GRCm39) T20A probably benign Het
Hsf1 T C 15: 76,382,870 (GRCm39) L370P probably benign Het
Iqsec1 T A 6: 90,645,770 (GRCm39) I809F probably damaging Het
Itsn1 G T 16: 91,686,092 (GRCm39) M54I possibly damaging Het
Klra2 T C 6: 131,207,057 (GRCm39) N184S probably benign Het
Lifr T A 15: 7,215,104 (GRCm39) V737E probably damaging Het
Lrpprc T C 17: 85,033,767 (GRCm39) T1037A probably benign Het
Map3k13 A T 16: 21,727,454 (GRCm39) I439F possibly damaging Het
Megf8 T C 7: 25,062,988 (GRCm39) V2448A possibly damaging Het
Mthfd1l T A 10: 4,033,824 (GRCm39) V737D probably damaging Het
Mtm1 A G X: 70,343,276 (GRCm39) T386A probably damaging Het
Muc5b T C 7: 141,421,404 (GRCm39) V4298A probably benign Het
Or10ag2 T G 2: 87,248,636 (GRCm39) F81L probably benign Het
Or5w18 A T 2: 87,632,864 (GRCm39) I44F probably benign Het
Or8k21 C T 2: 86,144,983 (GRCm39) G216R possibly damaging Het
Plch1 A G 3: 63,605,285 (GRCm39) S1531P probably damaging Het
Poc1b T A 10: 98,980,210 (GRCm39) probably benign Het
Rictor T A 15: 6,815,924 (GRCm39) N1065K probably benign Het
Rpsa A G 9: 119,957,659 (GRCm39) E35G possibly damaging Het
Scfd1 T A 12: 51,469,704 (GRCm39) D416E possibly damaging Het
Sdad1 A T 5: 92,449,661 (GRCm39) probably benign Het
Skor1 A G 9: 63,053,397 (GRCm39) S191P probably damaging Het
Slc28a2 T C 2: 122,288,693 (GRCm39) F600L probably benign Het
Tmem229b-ps A G 10: 53,351,250 (GRCm39) noncoding transcript Het
Top2b A G 14: 16,407,163 (GRCm38) M678V possibly damaging Het
Ttn T C 2: 76,617,107 (GRCm39) N8092S probably damaging Het
Ttn C T 2: 76,572,033 (GRCm39) V26287I probably damaging Het
Tulp4 T A 17: 6,263,666 (GRCm39) I345N probably damaging Het
U2surp C T 9: 95,384,622 (GRCm39) V21I probably benign Het
Ubr5 T C 15: 38,018,564 (GRCm39) T859A possibly damaging Het
Ubr5 T C 15: 38,018,558 (GRCm39) K861E probably damaging Het
Unc13d A G 11: 115,959,628 (GRCm39) V617A possibly damaging Het
Vmn2r10 T C 5: 109,151,341 (GRCm39) Y91C probably damaging Het
Vmn2r120 T A 17: 57,816,385 (GRCm39) I657F probably benign Het
Wwc2 T C 8: 48,302,418 (GRCm39) R931G unknown Het
Other mutations in Elk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Elk4 APN 1 131,945,592 (GRCm39) missense possibly damaging 0.49
IGL02376:Elk4 APN 1 131,942,288 (GRCm39) missense probably benign 0.27
IGL02620:Elk4 APN 1 131,946,109 (GRCm39) missense probably benign 0.14
IGL03217:Elk4 APN 1 131,945,778 (GRCm39) missense probably benign 0.09
R1386:Elk4 UTSW 1 131,945,568 (GRCm39) missense probably damaging 1.00
R4937:Elk4 UTSW 1 131,945,419 (GRCm39) missense probably damaging 1.00
R6958:Elk4 UTSW 1 131,945,570 (GRCm39) missense probably damaging 1.00
R7025:Elk4 UTSW 1 131,947,107 (GRCm39) missense probably damaging 1.00
R7189:Elk4 UTSW 1 131,947,127 (GRCm39) missense probably damaging 0.99
R9067:Elk4 UTSW 1 131,942,143 (GRCm39) missense possibly damaging 0.93
R9753:Elk4 UTSW 1 131,945,881 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16