Incidental Mutation 'R7189:Elk4'
ID 559468
Institutional Source Beutler Lab
Gene Symbol Elk4
Ensembl Gene ENSMUSG00000026436
Gene Name ELK4, member of ETS oncogene family
Synonyms Sap1, A130026I01Rik, 2310011G17Rik
MMRRC Submission 045238-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7189 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131935129-131954186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131947127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 373 (I373V)
Ref Sequence ENSEMBL: ENSMUSP00000027696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027696] [ENSMUST00000086556] [ENSMUST00000126927] [ENSMUST00000146432]
AlphaFold P41158
Predicted Effect probably damaging
Transcript: ENSMUST00000027696
AA Change: I373V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
AA Change: I373V

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: I373V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
AA Change: I373V

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: 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 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
Predicted Effect
SMART Domains Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436
AA Change: I232V

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
Meta Mutation Damage Score 0.0895 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (57/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G T 2: 103,397,861 (GRCm39) A264S probably benign Het
Atosa T C 9: 74,911,633 (GRCm39) C42R probably damaging Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bmp4 A G 14: 46,621,456 (GRCm39) S363P probably damaging Het
Cfap54 C A 10: 92,773,590 (GRCm39) A2077S unknown Het
Chrna7 T C 7: 62,755,775 (GRCm39) D257G probably damaging Het
Chrnd C T 1: 87,118,780 (GRCm39) R46W probably damaging Het
Cntn2 A G 1: 132,444,824 (GRCm39) I851T probably damaging Het
Col3a1 T A 1: 45,372,817 (GRCm39) I534K unknown Het
Cyp3a25 A T 5: 145,939,870 (GRCm39) L46I probably benign Het
Dnah7b G C 1: 46,281,302 (GRCm39) G2788R probably damaging Het
Dnpep T C 1: 75,290,074 (GRCm39) E301G probably damaging Het
Efcab3 T C 11: 104,986,690 (GRCm39) S30P probably benign Het
Fam161b T C 12: 84,395,420 (GRCm39) S508G probably damaging Het
Fgf10 A G 13: 118,925,659 (GRCm39) E146G probably benign Het
Fsip2 A G 2: 82,823,581 (GRCm39) D6438G possibly damaging Het
Garin2 C T 12: 78,758,982 (GRCm39) P101S probably benign Het
Gask1b T A 3: 79,794,114 (GRCm39) L194* probably null Het
Gm49355 T A 14: 12,296,672 (GRCm38) C10* probably null Het
Hfm1 A G 5: 107,049,569 (GRCm39) probably null Het
Hivep3 T C 4: 119,989,416 (GRCm39) S1956P probably damaging Het
Hrh2 A G 13: 54,375,270 (GRCm39) S369G unknown Het
Hspg2 T C 4: 137,260,872 (GRCm39) probably null Het
Hsph1 T C 5: 149,553,925 (GRCm39) Y181C probably damaging Het
Kcnh8 A G 17: 53,201,145 (GRCm39) probably null Het
Kctd1 C T 18: 15,195,700 (GRCm39) E308K possibly damaging Het
Kdm8 A T 7: 125,060,103 (GRCm39) Y335F probably damaging Het
Kif2b C G 11: 91,467,963 (GRCm39) G107R probably benign Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lepr T C 4: 101,671,961 (GRCm39) V995A probably benign Het
Mfsd4a A T 1: 131,980,131 (GRCm39) V375E probably damaging Het
Mgl2 G T 11: 70,027,869 (GRCm39) W359L probably damaging Het
Muc5b C A 7: 141,414,798 (GRCm39) Y2581* probably null Het
Nol10 G T 12: 17,423,562 (GRCm39) probably null Het
Or4k47 T A 2: 111,451,538 (GRCm39) M294L probably benign Het
Or52n3 A T 7: 104,530,348 (GRCm39) K145* probably null Het
Otud3 C T 4: 138,636,865 (GRCm39) V99M probably damaging Het
Parvb T C 15: 84,187,672 (GRCm39) probably null Het
Pclo C A 5: 14,571,932 (GRCm39) P439Q possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Pkn1 A T 8: 84,419,302 (GRCm39) H100Q possibly damaging Het
Plce1 A T 19: 38,748,581 (GRCm39) I1771F probably damaging Het
Plxna2 G T 1: 194,483,366 (GRCm39) R1559L possibly damaging Het
Ppp2r3d T A 9: 101,003,621 (GRCm39) I416L possibly damaging Het
Pramel42 T A 5: 94,685,610 (GRCm39) Y423* probably null Het
Robo1 C A 16: 72,757,039 (GRCm39) C333* probably null Het
Ryr2 A T 13: 11,898,009 (GRCm39) Y129N probably damaging Het
Schip1 A T 3: 68,525,032 (GRCm39) K359M probably damaging Het
Schip1 G T 3: 68,525,033 (GRCm39) K359N probably damaging Het
Sh2d2a T A 3: 87,755,668 (GRCm39) S65T possibly damaging Het
Ssrp1 G A 2: 84,875,906 (GRCm39) M588I probably benign Het
Stim2 T A 5: 54,273,470 (GRCm39) C567S probably benign Het
Syne1 C A 10: 5,374,295 (GRCm39) A171S probably benign Het
Tigd3 A G 19: 5,943,050 (GRCm39) S27P probably benign Het
Vipr1 C A 9: 121,493,620 (GRCm39) Q224K probably damaging Het
Vmn1r75 T A 7: 11,614,475 (GRCm39) M69K possibly damaging Het
Vmn2r72 T G 7: 85,404,125 (GRCm39) D22A probably benign Het
Zbtb24 G A 10: 41,340,472 (GRCm39) V523I probably benign Het
Zbtb43 A G 2: 33,352,307 (GRCm39) F20S 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCTCTATTGTACCTGACTTTAGG -3'
(R):5'- AAGGTGTGTGGCAATGACAC -3'

Sequencing Primer
(F):5'- TGCTTTCTAGTTTGGGAAGACC -3'
(R):5'- TGGCAATGACACGGGGC -3'
Posted On 2019-06-26