Incidental Mutation 'IGL02247:Egr1'
ID 286226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egr1
Ensembl Gene ENSMUSG00000038418
Gene Name early growth response 1
Synonyms Zfp-6, A530045N19Rik, NGFIA, TIS8, Egr-1, Zif268, Zenk, Krox24, NGF1-A, Krox-24, NGFI-A, Krox-1, ETR103
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # IGL02247
Quality Score
Status
Chromosome 18
Chromosomal Location 34994260-34998009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34995916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 233 (Y233H)
Ref Sequence ENSEMBL: ENSMUSP00000126931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064795] [ENSMUST00000165033]
AlphaFold P08046
Predicted Effect possibly damaging
Transcript: ENSMUST00000064795
AA Change: Y233H

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069616
Gene: ENSMUSG00000038418
AA Change: Y233H

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
Pfam:DUF3446 132 217 8.9e-28 PFAM
ZnF_C2H2 336 360 3.21e-4 SMART
ZnF_C2H2 366 388 2.91e-2 SMART
ZnF_C2H2 394 416 1.36e-2 SMART
Pfam:DUF3432 426 520 4.9e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165033
AA Change: Y233H

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126931
Gene: ENSMUSG00000038418
AA Change: Y233H

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
Pfam:DUF3446 132 217 1.4e-30 PFAM
ZnF_C2H2 336 360 3.21e-4 SMART
ZnF_C2H2 366 388 2.91e-2 SMART
ZnF_C2H2 394 416 1.36e-2 SMART
Pfam:DUF3432 424 520 2.5e-32 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for targeted mutations are small and infertile due to pituitary defects. Mutants exhibit reductions in somatotropes and growth hormone content, and a lack of luteinizing hormone-beta expression. Ovaries lack luteinizing hormone receptors. Memory defects are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,974,905 (GRCm39) R177G probably damaging Het
Ap3b1 T C 13: 94,531,303 (GRCm39) probably null Het
Ascc3 A C 10: 50,526,686 (GRCm39) K595T probably damaging Het
Cnpy4 A G 5: 138,191,125 (GRCm39) T234A probably benign Het
Col13a1 T C 10: 61,797,124 (GRCm39) Y101C probably damaging Het
Crybg3 A G 16: 59,323,513 (GRCm39) I2809T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dgkz T C 2: 91,767,805 (GRCm39) S824G probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Efhb C T 17: 53,708,652 (GRCm39) V673I probably benign Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Galt A G 4: 41,755,623 (GRCm39) probably benign Het
Gm4795 T C 10: 44,883,211 (GRCm39) noncoding transcript Het
Gm6563 G A 19: 23,653,392 (GRCm39) E61K possibly damaging Het
Igkv1-133 G A 6: 67,702,590 (GRCm39) V103M probably damaging Het
Iqcb1 T A 16: 36,660,258 (GRCm39) H140Q probably benign Het
Itpk1 G T 12: 102,589,668 (GRCm39) P74Q probably damaging Het
Itpr3 T A 17: 27,317,153 (GRCm39) W803R probably damaging Het
Lgr4 A T 2: 109,832,846 (GRCm39) D312V probably benign Het
Lgr4 C T 2: 109,838,420 (GRCm39) probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mllt6 C A 11: 97,561,158 (GRCm39) A282E probably benign Het
Mtif2 T C 11: 29,490,642 (GRCm39) S449P possibly damaging Het
Nrg3 T C 14: 38,093,269 (GRCm39) I533M probably damaging Het
Nynrin C T 14: 56,109,167 (GRCm39) Q1425* probably null Het
Or12e13 A G 2: 87,663,873 (GRCm39) I163M probably damaging Het
Or1e1f A T 11: 73,855,688 (GRCm39) M85L probably benign Het
Or4n4b T A 14: 50,536,571 (GRCm39) N65I probably damaging Het
Or4p22 C T 2: 88,317,771 (GRCm39) H232Y probably benign Het
Or56a3 T A 7: 104,735,530 (GRCm39) Y202* probably null Het
Or5b3 T A 19: 13,388,831 (GRCm39) S299R probably benign Het
Or7e175 G A 9: 20,048,516 (GRCm39) V35I probably benign Het
Plcb4 C T 2: 135,836,245 (GRCm39) T20I possibly damaging Het
Ppp1r12b G T 1: 134,763,721 (GRCm39) T771K probably benign Het
Prss22 T C 17: 24,215,363 (GRCm39) T138A probably benign Het
Ros1 A T 10: 52,005,677 (GRCm39) S907T probably damaging Het
Rtel1 T A 2: 180,993,134 (GRCm39) Y521* probably null Het
Sacs T C 14: 61,429,984 (GRCm39) F678S probably damaging Het
Smtnl1 A T 2: 84,647,372 (GRCm39) probably benign Het
Sumf2 T C 5: 129,888,986 (GRCm39) V258A probably damaging Het
Tas1r2 A T 4: 139,396,827 (GRCm39) Y722F probably damaging Het
Tecpr1 A G 5: 144,143,372 (GRCm39) F668L possibly damaging Het
Timd4 T C 11: 46,706,558 (GRCm39) F120S probably damaging Het
Tnnt3 T C 7: 142,062,062 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,067,070 (GRCm39) S552F probably damaging Het
Txlnb G A 10: 17,706,090 (GRCm39) R333Q possibly damaging Het
Txlnb A G 10: 17,717,276 (GRCm39) probably benign Het
Uroc1 A G 6: 90,324,910 (GRCm39) E461G probably benign Het
Vps45 G A 3: 95,950,236 (GRCm39) T231I probably damaging Het
Zfp648 T A 1: 154,079,923 (GRCm39) S27R probably benign Het
Other mutations in Egr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Egr1 APN 18 34,995,547 (GRCm39) missense possibly damaging 0.91
IGL02175:Egr1 APN 18 34,996,108 (GRCm39) missense probably benign 0.26
PIT4651001:Egr1 UTSW 18 34,996,240 (GRCm39) nonsense probably null
R0362:Egr1 UTSW 18 34,996,366 (GRCm39) missense possibly damaging 0.95
R1998:Egr1 UTSW 18 34,994,587 (GRCm39) missense probably benign 0.00
R5010:Egr1 UTSW 18 34,996,711 (GRCm39) missense probably benign
R7762:Egr1 UTSW 18 34,996,598 (GRCm39) missense probably damaging 0.99
R8318:Egr1 UTSW 18 34,996,663 (GRCm39) missense probably damaging 0.97
R9701:Egr1 UTSW 18 34,995,674 (GRCm39) missense probably damaging 0.97
R9802:Egr1 UTSW 18 34,995,674 (GRCm39) missense probably damaging 0.97
Z1177:Egr1 UTSW 18 34,996,283 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16