Incidental Mutation 'R8318:Egr1'
ID641833
Institutional Source Beutler Lab
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
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.859) question?
Stock #R8318 (G1)
Quality Score225.009
Status Not validated
Chromosome18
Chromosomal Location34859823-34864984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34863610 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 482 (S482P)
Ref Sequence ENSEMBL: ENSMUSP00000069616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064795] [ENSMUST00000165033]
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: S482P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069616
Gene: ENSMUSG00000038418
AA Change: S482P

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: S482P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126931
Gene: ENSMUSG00000038418
AA Change: S482P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T C 8: 23,115,551 V1145A probably damaging Het
Ankrd35 G A 3: 96,684,722 V775M probably damaging Het
Ankrd63 C T 2: 118,703,240 V67M unknown Het
Arhgef5 T A 6: 43,275,999 probably null Het
Atp13a2 A T 4: 141,007,024 Q1152H probably benign Het
Col7a1 G A 9: 108,958,374 A612T unknown Het
Csgalnact1 T C 8: 68,461,133 E140G probably damaging Het
Ddx18 G T 1: 121,566,087 A56D probably benign Het
Dixdc1 T C 9: 50,684,409 probably null Het
Dpys G A 15: 39,784,665 T498I probably benign Het
Ear6 A G 14: 51,854,265 I90V probably benign Het
Ehbp1 C T 11: 22,137,980 R393Q probably benign Het
Enpep A G 3: 129,270,337 I927T probably damaging Het
Ermard C T 17: 15,022,072 T406I possibly damaging Het
Etl4 T C 2: 20,788,530 S971P probably damaging Het
Fam63a A G 3: 95,292,625 S246G probably damaging Het
Fan1 C A 7: 64,350,055 V861F probably damaging Het
Fbp1 A G 13: 62,865,011 F328L probably benign Het
Fgd5 T A 6: 91,987,496 F237I probably benign Het
Fmn1 T C 2: 113,365,157 S401P unknown Het
Gabbr1 G A 17: 37,062,543 E444K probably benign Het
Htr3b C A 9: 48,964,877 probably benign Het
Ighv1-49 A G 12: 115,055,431 F48S probably damaging Het
Kcnh4 A G 11: 100,752,328 L371P probably damaging Het
Kcnk15 A G 2: 163,858,269 T143A probably damaging Het
Klk1b4 T G 7: 44,210,911 S150A possibly damaging Het
Krt6a A T 15: 101,694,247 M1K probably null Het
Lama2 G A 10: 26,984,338 S3051L probably damaging Het
Lgals4 T C 7: 28,834,515 M38T probably benign Het
Lrrc16a A G 13: 24,036,459 L1094P probably benign Het
Mdn1 T C 4: 32,735,897 probably null Het
Myo18a A G 11: 77,823,389 T770A probably benign Het
Olfr1221 T A 2: 89,111,898 I205F probably benign Het
Olfr1254 C T 2: 89,788,977 C125Y possibly damaging Het
Olfr270 T C 4: 52,971,104 V161A probably benign Het
Pcdhb19 T A 18: 37,497,946 S265T possibly damaging Het
Pcna T C 2: 132,251,428 Y133C probably damaging Het
Polr2b A G 5: 77,335,729 E684G probably benign Het
Pon2 T C 6: 5,265,425 I321V probably benign Het
Prss54 T A 8: 95,564,466 M169L probably damaging Het
Rps3 T A 7: 99,483,731 probably benign Het
Senp1 T C 15: 98,064,867 D312G probably damaging Het
Serpina10 T A 12: 103,616,848 T446S possibly damaging Het
Slc2a5 A G 4: 150,139,658 D241G possibly damaging Het
Slc7a11 A G 3: 50,417,986 probably null Het
Tgfbrap1 G C 1: 43,056,669 C536W probably damaging Het
Trip11 C T 12: 101,912,804 G9S unknown Het
Zfp626 C A 7: 27,818,245 T217K possibly damaging 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
IGL02247:Egr1 APN 18 34862863 missense possibly damaging 0.94
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
Z1177:Egr1 UTSW 18 34863230 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAAAAGTGTGGTGGCCTCC -3'
(R):5'- GGCTCTGAGATCTTCCATCTGAC -3'

Sequencing Primer
(F):5'- CCCGGCTGCCTCTTCAC -3'
(R):5'- GAGATCTTCCATCTGACCTAAGAGG -3'
Posted On2020-07-28