Incidental Mutation 'IGL02247:Egr1'
ID286226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egr1
Ensembl Gene ENSMUSG00000038418
Gene Nameearly growth response 1
SynonymsZfp-6, Krox-1, Zenk, Zif268, NGF1-A, A530045N19Rik, NGFI-A, NGFIA, ETR103, TIS8, Krox-24, Krox24, Egr-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.811) question?
Stock #IGL02247
Quality Score
Status
Chromosome18
Chromosomal Location34859823-34864984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34862863 bp
ZygosityHeterozygous
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]
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: 27,084,893 R177G probably damaging Het
Ap3b1 T C 13: 94,394,795 probably null Het
Ascc3 A C 10: 50,650,590 K595T probably damaging Het
Cnpy4 A G 5: 138,192,863 T234A probably benign Het
Col13a1 T C 10: 61,961,345 Y101C probably damaging Het
Crybg3 A G 16: 59,503,150 I2809T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dgkz T C 2: 91,937,460 S824G probably benign Het
Dsg1c T A 18: 20,264,316 I27N probably damaging Het
Efhb C T 17: 53,401,624 V673I probably benign Het
Fam184a T C 10: 53,675,160 E237G probably damaging Het
Galt A G 4: 41,755,623 probably benign Het
Gm4795 T C 10: 45,007,115 noncoding transcript Het
Gm6563 G A 19: 23,676,028 E61K possibly damaging Het
Igkv1-133 G A 6: 67,725,606 V103M probably damaging Het
Iqcb1 T A 16: 36,839,896 H140Q probably benign Het
Itpk1 G T 12: 102,623,409 P74Q probably damaging Het
Itpr3 T A 17: 27,098,179 W803R probably damaging Het
Lgr4 C T 2: 110,008,075 probably benign Het
Lgr4 A T 2: 110,002,501 D312V probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mllt6 C A 11: 97,670,332 A282E probably benign Het
Mtif2 T C 11: 29,540,642 S449P possibly damaging Het
Nrg3 T C 14: 38,371,312 I533M probably damaging Het
Nynrin C T 14: 55,871,710 Q1425* probably null Het
Olfr1148 A G 2: 87,833,529 I163M probably damaging Het
Olfr1184 C T 2: 88,487,427 H232Y probably benign Het
Olfr1469 T A 19: 13,411,467 S299R probably benign Het
Olfr397 A T 11: 73,964,862 M85L probably benign Het
Olfr679 T A 7: 105,086,323 Y202* probably null Het
Olfr733 T A 14: 50,299,114 N65I probably damaging Het
Olfr869 G A 9: 20,137,220 V35I probably benign Het
Plcb4 C T 2: 135,994,325 T20I possibly damaging Het
Ppp1r12b G T 1: 134,835,983 T771K probably benign Het
Prss22 T C 17: 23,996,389 T138A probably benign Het
Ros1 A T 10: 52,129,581 S907T probably damaging Het
Rtel1 T A 2: 181,351,341 Y521* probably null Het
Sacs T C 14: 61,192,535 F678S probably damaging Het
Smtnl1 A T 2: 84,817,028 probably benign Het
Sumf2 T C 5: 129,860,145 V258A probably damaging Het
Tas1r2 A T 4: 139,669,516 Y722F probably damaging Het
Tecpr1 A G 5: 144,206,554 F668L possibly damaging Het
Timd4 T C 11: 46,815,731 F120S probably damaging Het
Tnnt3 T C 7: 142,508,325 probably benign Het
Trp53bp1 G A 2: 121,236,589 S552F probably damaging Het
Txlnb G A 10: 17,830,342 R333Q possibly damaging Het
Txlnb A G 10: 17,841,528 probably benign Het
Uroc1 A G 6: 90,347,928 E461G probably benign Het
Vps45 G A 3: 96,042,924 T231I probably damaging Het
Zfp648 T A 1: 154,204,177 S27R probably benign Het
Other mutations in Egr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Egr1 APN 18 34862494 missense possibly damaging 0.91
IGL02175:Egr1 APN 18 34863055 missense probably benign 0.26
PIT4651001:Egr1 UTSW 18 34863187 nonsense probably null
R0362:Egr1 UTSW 18 34863313 missense possibly damaging 0.95
R1998:Egr1 UTSW 18 34861534 missense probably benign 0.00
R5010:Egr1 UTSW 18 34863658 missense probably benign
R7762:Egr1 UTSW 18 34863545 missense probably damaging 0.99
R8318:Egr1 UTSW 18 34863610 missense probably damaging 0.97
Z1177:Egr1 UTSW 18 34863230 missense probably damaging 0.99
Posted On2015-04-16