Incidental Mutation 'IGL03217:Elk4'
ID 413509
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 # IGL03217
Quality Score
Status
Chromosome 1
Chromosomal Location 131935129-131954186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131945778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 219 (T219A)
Ref Sequence ENSEMBL: ENSMUSP00000118880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027696] [ENSMUST00000086556] [ENSMUST00000126927] [ENSMUST00000146432]
AlphaFold P41158
Predicted Effect probably benign
Transcript: ENSMUST00000027696
AA Change: T219A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
AA Change: T219A

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: T219A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
AA Change: T219A

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 probably benign
Transcript: ENSMUST00000146432
AA Change: T219A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118880
Gene: ENSMUSG00000026436
AA Change: T219A

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 unknown
Transcript: ENSMUST00000147218
AA Change: T78A
SMART Domains Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436
AA Change: T78A

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: ENSMUST00000191034
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,258,430 (GRCm39) I29T probably damaging Het
Adam2 G A 14: 66,272,262 (GRCm39) P640L possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cd300lf T A 11: 115,015,117 (GRCm39) T151S possibly damaging Het
Eml1 G T 12: 108,501,201 (GRCm39) E680D probably benign Het
Gm9755 T C 8: 67,967,035 (GRCm39) noncoding transcript Het
Hmcn1 A T 1: 150,619,418 (GRCm39) I1232N possibly damaging Het
Maml2 T C 9: 13,531,295 (GRCm39) S170P probably damaging Het
Mettl16 T A 11: 74,708,529 (GRCm39) M536K probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nxf2 T C X: 133,856,281 (GRCm39) I287V probably benign Het
Nyap2 A G 1: 81,065,039 (GRCm39) D17G probably damaging Het
Pde6b T C 5: 108,567,432 (GRCm39) C270R probably damaging Het
Ptchd1 T C X: 154,356,955 (GRCm39) D750G probably damaging Het
Rrn3 G A 16: 13,626,875 (GRCm39) E490K possibly damaging Het
Slc27a2 G A 2: 126,428,172 (GRCm39) G519D possibly damaging Het
Sox5 A G 6: 143,853,223 (GRCm39) S352P probably damaging Het
Spart G T 3: 55,035,912 (GRCm39) probably benign Het
Sult1e1 T C 5: 87,737,947 (GRCm39) T45A possibly damaging Het
Tat G A 8: 110,721,818 (GRCm39) V242I probably benign Het
Zfp442 A G 2: 150,251,714 (GRCm39) probably benign 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
IGL02620:Elk4 APN 1 131,946,109 (GRCm39) missense probably benign 0.14
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 2016-08-02