Incidental Mutation 'IGL01798:Elk4'
ID 155431
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 # IGL01798
Quality Score
Status
Chromosome 1
Chromosomal Location 131935129-131954186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131945592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 157 (S157T)
Ref Sequence ENSEMBL: ENSMUSP00000118880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027696] [ENSMUST00000086556] [ENSMUST00000126927] [ENSMUST00000146432]
AlphaFold P41158
Predicted Effect possibly damaging
Transcript: ENSMUST00000027696
AA Change: S157T

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
AA Change: S157T

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 possibly damaging
Transcript: ENSMUST00000086556
AA Change: S157T

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
AA Change: S157T

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 possibly damaging
Transcript: ENSMUST00000146432
AA Change: S157T

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118880
Gene: ENSMUSG00000026436
AA Change: S157T

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 probably benign
Transcript: ENSMUST00000147218
AA Change: S16T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436
AA Change: S16T

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,163,921 (GRCm39) I818V probably benign Het
Adam22 A C 5: 8,282,604 (GRCm39) probably null Het
Afap1 T A 5: 36,093,026 (GRCm39) probably null Het
Aunip G T 4: 134,250,722 (GRCm39) K222N possibly damaging Het
Ccnt1 A G 15: 98,442,122 (GRCm39) V382A probably benign Het
Clip1 T C 5: 123,721,612 (GRCm39) D1123G probably damaging Het
Cxcr1 T A 1: 74,231,759 (GRCm39) I88F possibly damaging Het
Duox2 A C 2: 122,112,389 (GRCm39) Y1266D probably damaging Het
Erc1 T C 6: 119,597,298 (GRCm39) T1004A possibly damaging Het
Fah T C 7: 84,238,837 (GRCm39) N336S probably benign Het
Glg1 A T 8: 111,919,332 (GRCm39) S253T possibly damaging Het
Gm10377 A T 14: 42,614,864 (GRCm39) I167K probably benign Het
Hipk1 A T 3: 103,668,875 (GRCm39) I507N probably damaging Het
Hnf1a T C 5: 115,091,732 (GRCm39) E357G probably damaging Het
Ighv1-22 A T 12: 114,710,298 (GRCm39) L10H probably damaging Het
Igkv6-23 A G 6: 70,237,574 (GRCm39) Y56H probably damaging Het
Lyrm9 A G 11: 78,728,955 (GRCm39) I56V probably damaging Het
Ncam1 G T 9: 49,419,907 (GRCm39) T804K probably damaging Het
Nfu1 T A 6: 86,992,605 (GRCm39) I73K probably damaging Het
Ruvbl2 A G 7: 45,071,587 (GRCm39) L432P probably damaging Het
Tcf3 T C 10: 80,249,043 (GRCm39) T527A probably benign Het
Tle1 T C 4: 72,055,385 (GRCm39) D432G probably damaging Het
Other mutations in Elk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-02-04