Incidental Mutation 'IGL02620:Elk4'
ID 300811
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 # IGL02620
Quality Score
Status
Chromosome 1
Chromosomal Location 131935129-131954186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 131946109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 329 (A329D)
Ref Sequence ENSEMBL: ENSMUSP00000083743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027696] [ENSMUST00000086556] [ENSMUST00000126927] [ENSMUST00000146432]
AlphaFold P41158
Predicted Effect probably benign
Transcript: ENSMUST00000027696
AA Change: A329D

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
AA Change: A329D

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 benign
Transcript: ENSMUST00000086556
AA Change: A329D

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
AA Change: A329D

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 probably benign
Transcript: ENSMUST00000126927
SMART Domains Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149

DomainStartEndE-ValueType
Pfam:MFS_1 21 405 1.1e-11 PFAM
transmembrane domain 433 455 N/A INTRINSIC
transmembrane domain 460 482 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146188
Predicted Effect unknown
Transcript: ENSMUST00000147218
AA Change: A188D
SMART Domains Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436
AA Change: A188D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191034
Predicted Effect probably benign
Transcript: ENSMUST00000146432
SMART Domains Protein: ENSMUSP00000118880
Gene: ENSMUSG00000026436

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,231,943 (GRCm39) probably null Het
Bltp1 T C 3: 37,090,094 (GRCm39) V4174A possibly damaging Het
Ccdc150 T A 1: 54,302,704 (GRCm39) L108* probably null Het
Cdon C T 9: 35,364,095 (GRCm39) T71I probably benign Het
Chdh T C 14: 29,753,096 (GRCm39) W2R probably damaging Het
Ckap5 T G 2: 91,436,714 (GRCm39) L1605V probably benign Het
Cluh C T 11: 74,555,893 (GRCm39) Q819* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cwc27 C A 13: 104,938,714 (GRCm39) probably benign Het
Fbxo40 T C 16: 36,786,442 (GRCm39) H709R probably benign Het
Flna A G X: 73,273,582 (GRCm39) probably benign Het
Grip2 G T 6: 91,755,587 (GRCm39) D592E possibly damaging Het
H2-T24 T G 17: 36,328,183 (GRCm39) N100T probably damaging Het
Hepacam2 C A 6: 3,487,280 (GRCm39) probably benign Het
Ighv2-2 T A 12: 113,551,912 (GRCm39) T109S possibly damaging Het
Ipo11 T C 13: 107,012,789 (GRCm39) probably null Het
Kcnh8 T C 17: 53,205,525 (GRCm39) M540T probably damaging Het
Kifc3 A G 8: 95,836,582 (GRCm39) S82P probably damaging Het
Map4k5 T C 12: 69,939,476 (GRCm39) Y20C probably benign Het
Milr1 C A 11: 106,645,744 (GRCm39) S95R probably damaging Het
Mtnr1b A C 9: 15,785,617 (GRCm39) V47G possibly damaging Het
Nme1nme2 G T 11: 93,843,682 (GRCm39) R173S possibly damaging Het
Or6a2 T A 7: 106,600,825 (GRCm39) K81* probably null Het
Phactr2 T C 10: 13,167,632 (GRCm39) R100G probably damaging Het
Potefam1 C T 2: 111,041,970 (GRCm39) V322I probably benign Het
Ppargc1b A G 18: 61,431,810 (GRCm39) Y997H probably damaging Het
Pramel3a A G X: 134,211,158 (GRCm39) M397V probably benign Het
Ptprz1 A G 6: 22,959,739 (GRCm39) K79E probably damaging Het
Rabgef1 T C 5: 130,219,863 (GRCm39) S109P probably damaging Het
Raf1 A T 6: 115,609,848 (GRCm39) probably benign Het
Rptor T C 11: 119,671,413 (GRCm39) L292P probably benign Het
Slc25a45 A G 19: 5,934,554 (GRCm39) D174G probably damaging Het
Tbcd C T 11: 121,352,081 (GRCm39) T146M probably damaging Het
Zfp458 T A 13: 67,406,058 (GRCm39) H127L probably damaging 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
IGL02503:Elk4 APN 1 131,942,277 (GRCm39) missense probably damaging 1.00
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