Incidental Mutation 'R9802:Egr1'
ID 735289
Institutional Source Beutler Lab
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
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.856) question?
Stock # R9802 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34994260-34998009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34995674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 152 (F152S)
Ref Sequence ENSEMBL: ENSMUSP00000069616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064795] [ENSMUST00000165033]
AlphaFold P08046
PDB Structure DSNR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GACC SITE) [X-RAY DIFFRACTION]
DSNR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCGT SITE) [X-RAY DIFFRACTION]
QGSR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCAC SITE) [X-RAY DIFFRACTION]
RADR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCAC SITE) [X-RAY DIFFRACTION]
RADR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCGT SITE) [X-RAY DIFFRACTION]
RADR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GACC SITE) [X-RAY DIFFRACTION]
ZIF268 ZINC FINGER-DNA COMPLEX (GCAC SITE) [X-RAY DIFFRACTION]
ZIF268 ZINC FINGER-DNA COMPLEX [X-RAY DIFFRACTION]
COCRYSTAL STRUCTURE OF SELECTED ZINC FINGER DIMER BOUND TO DNA [X-RAY DIFFRACTION]
STRUCTURE OF A CYS2HIS2 ZINC FINGER/TATA BOX COMPLEX (CLONE #2) [X-RAY DIFFRACTION]
>> 6 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000064795
AA Change: F152S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069616
Gene: ENSMUSG00000038418
AA Change: F152S

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 probably damaging
Transcript: ENSMUST00000165033
AA Change: F152S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126931
Gene: ENSMUSG00000038418
AA Change: F152S

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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
Abcc8 T C 7: 45,786,054 (GRCm39) D673G probably benign Het
Akr1b1 T C 6: 34,283,508 (GRCm39) Y292C probably benign Het
Alg8 T A 7: 97,027,486 (GRCm39) V118E possibly damaging Het
Alms1 T A 6: 85,606,220 (GRCm39) D2154E possibly damaging Het
Anln T C 9: 22,245,453 (GRCm39) I1029M probably damaging Het
Bltp3b G A 10: 89,615,755 (GRCm39) V133I probably benign Het
Bms1 T A 6: 118,368,147 (GRCm39) K1039I probably damaging Het
Cdh11 G A 8: 103,391,276 (GRCm39) T320I probably damaging Het
Col4a2 A G 8: 11,493,104 (GRCm39) N1299S probably benign Het
Dclk3 A G 9: 111,298,244 (GRCm39) D596G probably damaging Het
Dnah7a A T 1: 53,561,388 (GRCm39) C2090S probably benign Het
Dock7 T C 4: 98,846,384 (GRCm39) D1749G unknown Het
Eln C A 5: 134,744,559 (GRCm39) A479S unknown Het
Gipc3 G A 10: 81,179,097 (GRCm39) probably benign Het
Hcfc2 G T 10: 82,574,269 (GRCm39) G148* probably null Het
Hmcn1 T C 1: 150,684,391 (GRCm39) D393G probably benign Het
Hnf4g A T 3: 3,699,404 (GRCm39) N45Y probably benign Het
Ighd G A 12: 113,371,455 (GRCm39) P265S Het
Igkv3-10 T C 6: 70,550,001 (GRCm39) V49A probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A T 10: 67,060,745 (GRCm39) I852F possibly damaging Het
Lhx5 T A 5: 120,572,663 (GRCm39) V94E possibly damaging Het
Map3k13 C A 16: 21,740,518 (GRCm39) P615H possibly damaging Het
Med12l T C 3: 59,169,346 (GRCm39) W1579R probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mib1 T A 18: 10,798,494 (GRCm39) L785H probably damaging Het
Mrgpra6 C T 7: 46,835,533 (GRCm39) R296K probably benign Het
Mutyh A G 4: 116,676,485 (GRCm39) S486G probably benign Het
Naa15 T A 3: 51,349,370 (GRCm39) Y96* probably null Het
Naip1 C G 13: 100,562,713 (GRCm39) E817D probably benign Het
Nxf1 G A 19: 8,739,772 (GRCm39) G42D probably damaging Het
Obscn T C 11: 58,885,189 (GRCm39) Y8023C unknown Het
Opn5 G A 17: 42,903,582 (GRCm39) T251I possibly damaging Het
Or4c11b T A 2: 88,625,491 (GRCm39) I255K probably damaging Het
Plcl1 T C 1: 55,735,241 (GRCm39) L194P probably damaging Het
Prkab1 T C 5: 116,162,274 (GRCm39) E12G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb9e T C 13: 33,439,078 (GRCm39) F168S probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 T A 4: 112,111,094 (GRCm39) V73E probably damaging Het
Slc47a1 A T 11: 61,240,342 (GRCm39) C445S probably benign Het
Syne2 A G 12: 76,037,197 (GRCm39) E3792G probably damaging Het
T G A 17: 8,654,988 (GRCm39) V173M probably damaging Het
Tsr1 T C 11: 74,799,225 (GRCm39) M802T possibly damaging Het
Ttll4 A G 1: 74,720,482 (GRCm39) N499S probably benign Het
Txnrd3 T A 6: 89,640,176 (GRCm39) probably null Het
Vmn1r195 T C 13: 22,463,273 (GRCm39) Y248H probably damaging Het
Ybx3 G A 6: 131,345,426 (GRCm39) R316C probably benign Het
Zc3h7b C T 15: 81,676,505 (GRCm39) P749L probably damaging Het
Zfp607a A T 7: 27,578,704 (GRCm39) K591N probably damaging 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
IGL02247:Egr1 APN 18 34,995,916 (GRCm39) missense possibly damaging 0.94
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
Z1177:Egr1 UTSW 18 34,996,283 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGTAACCAGGCCTCTCTGTTC -3'
(R):5'- GGAACCTGGAAACCACCTTTG -3'

Sequencing Primer
(F):5'- GTTCCCTTTCCTGCCAGAG -3'
(R):5'- CTTTGGGGCTCAGGAAAAATGTC -3'
Posted On 2022-11-14