Incidental Mutation 'IGL01447:Egr3'
ID 84448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egr3
Ensembl Gene ENSMUSG00000033730
Gene Name early growth response 3
Synonyms Pilot
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # IGL01447
Quality Score
Status
Chromosome 14
Chromosomal Location 70314766-70320062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70316732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 143 (P143Q)
Ref Sequence ENSEMBL: ENSMUSP00000037042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035908] [ENSMUST00000225200]
AlphaFold P43300
Predicted Effect probably damaging
Transcript: ENSMUST00000035908
AA Change: P143Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037042
Gene: ENSMUSG00000033730
AA Change: P143Q

DomainStartEndE-ValueType
Pfam:DUF3446 87 156 3.6e-13 PFAM
ZnF_C2H2 275 299 3.95e-4 SMART
ZnF_C2H2 305 327 5.14e-3 SMART
ZnF_C2H2 333 355 1.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223809
Predicted Effect probably benign
Transcript: ENSMUST00000225200
AA Change: P181Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mutants exhibit partial postnatal lethality, sensory ataxia, resting tremors, blepharoptosis, scoliosis, muscle spindle agenesis, loss of myelinated proprioceptive neurons, and a defect in the strength of sensory-motor connections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T G 2: 22,743,194 (GRCm39) I342S probably damaging Het
Armh4 A T 14: 50,005,923 (GRCm39) S591T probably damaging Het
Atp6v1e1 T C 6: 120,772,654 (GRCm39) probably benign Het
Brwd1 A T 16: 95,848,579 (GRCm39) C533* probably null Het
Cacna2d4 A G 6: 119,219,865 (GRCm39) S212G probably damaging Het
Ccn5 A G 2: 163,670,942 (GRCm39) R150G probably damaging Het
Cit T C 5: 116,011,902 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr1 T C 5: 113,752,282 (GRCm39) T240A probably benign Het
D630003M21Rik T C 2: 158,059,276 (GRCm39) D208G probably benign Het
Fbxw18 T A 9: 109,530,675 (GRCm39) S41C probably damaging Het
Focad T A 4: 88,244,465 (GRCm39) I815N unknown Het
Heatr5b T C 17: 79,137,026 (GRCm39) T165A probably benign Het
Iqub G T 6: 24,505,627 (GRCm39) L94I probably benign Het
Lrrc32 T C 7: 98,147,583 (GRCm39) L121P probably damaging Het
Mansc1 G A 6: 134,594,289 (GRCm39) L118F probably damaging Het
Mtor A G 4: 148,615,214 (GRCm39) H1693R possibly damaging Het
Muc5b A G 7: 141,416,831 (GRCm39) Q3259R probably benign Het
Nmnat2 A G 1: 152,988,189 (GRCm39) S273G possibly damaging Het
Npr2 T C 4: 43,640,554 (GRCm39) C336R possibly damaging Het
Or10al6 C T 17: 38,083,122 (GRCm39) L193F probably damaging Het
Or1f19 A G 16: 3,410,848 (GRCm39) N196S possibly damaging Het
Or1j11 A T 2: 36,311,466 (GRCm39) I19F probably damaging Het
Or56b1b A G 7: 108,164,216 (GRCm39) V262A possibly damaging Het
Or5aq1 A T 2: 86,966,343 (GRCm39) Y107* probably null Het
Or5d36 T C 2: 87,901,468 (GRCm39) N86S possibly damaging Het
Rad54l2 C T 9: 106,579,971 (GRCm39) A967T probably damaging Het
Rspo1 T C 4: 124,898,829 (GRCm39) V50A possibly damaging Het
Sar1b C T 11: 51,682,274 (GRCm39) probably benign Het
Scamp1 C T 13: 94,340,530 (GRCm39) A280T probably damaging Het
Spcs2 A G 7: 99,488,911 (GRCm39) I251T probably benign Het
Sspo G T 6: 48,441,600 (GRCm39) probably null Het
Tpm2 T A 4: 43,518,251 (GRCm39) K251* probably null Het
Ttn A G 2: 76,571,250 (GRCm39) S26548P probably damaging Het
Ugcg T G 4: 59,213,865 (GRCm39) V149G possibly damaging Het
Unc79 T A 12: 103,045,177 (GRCm39) N784K probably damaging Het
Vit A G 17: 78,932,633 (GRCm39) D580G probably damaging Het
Vmn1r83 T C 7: 12,055,424 (GRCm39) K211R probably benign Het
Zbtb3 A G 19: 8,781,680 (GRCm39) Y431C probably damaging Het
Zfp608 T C 18: 55,032,083 (GRCm39) D619G possibly damaging Het
Other mutations in Egr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03054:Egr3 UTSW 14 70,316,561 (GRCm39) missense probably damaging 1.00
R1702:Egr3 UTSW 14 70,317,216 (GRCm39) missense probably damaging 1.00
R4796:Egr3 UTSW 14 70,315,024 (GRCm39) missense probably benign 0.15
R5911:Egr3 UTSW 14 70,316,897 (GRCm39) missense probably damaging 0.99
R6514:Egr3 UTSW 14 70,316,366 (GRCm39) missense probably damaging 0.98
R7674:Egr3 UTSW 14 70,315,526 (GRCm39) critical splice donor site probably null
R7887:Egr3 UTSW 14 70,316,651 (GRCm39) missense probably damaging 1.00
R9055:Egr3 UTSW 14 70,316,349 (GRCm39) missense probably damaging 0.98
R9363:Egr3 UTSW 14 70,316,761 (GRCm39) missense possibly damaging 0.46
R9514:Egr3 UTSW 14 70,314,978 (GRCm39) missense probably benign 0.01
Posted On 2013-11-11