Incidental Mutation 'IGL01921:Egr2'
ID180095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egr2
Ensembl Gene ENSMUSG00000037868
Gene Nameearly growth response 2
SynonymsZfp-25, Egr-2, Krox-20, Krox20, NGF1-B
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01921
Quality Score
Status
Chromosome10
Chromosomal Location67535475-67542188 bp(+) (GRCm38)
Type of Mutationsplice site (4133 bp from exon)
DNA Base Change (assembly) T to A at 67540378 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048289] [ENSMUST00000075686] [ENSMUST00000105438] [ENSMUST00000127820] [ENSMUST00000130933] [ENSMUST00000145754] [ENSMUST00000145936] [ENSMUST00000146986]
Predicted Effect probably damaging
Transcript: ENSMUST00000048289
AA Change: I268N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041053
Gene: ENSMUSG00000037868
AA Change: I268N

DomainStartEndE-ValueType
Pfam:DUF3446 94 184 2.5e-26 PFAM
low complexity region 190 217 N/A INTRINSIC
low complexity region 272 298 N/A INTRINSIC
low complexity region 312 321 N/A INTRINSIC
ZnF_C2H2 337 361 1.06e-4 SMART
ZnF_C2H2 367 389 2.91e-2 SMART
ZnF_C2H2 395 417 1.45e-2 SMART
low complexity region 425 449 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000075686
SMART Domains Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134

DomainStartEndE-ValueType
Pfam:DUF1637 45 254 2.7e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105438
AA Change: I218N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101078
Gene: ENSMUSG00000037868
AA Change: I218N

DomainStartEndE-ValueType
Pfam:DUF3446 44 134 1.3e-27 PFAM
low complexity region 140 167 N/A INTRINSIC
low complexity region 222 248 N/A INTRINSIC
low complexity region 262 271 N/A INTRINSIC
ZnF_C2H2 287 311 1.06e-4 SMART
ZnF_C2H2 317 339 2.91e-2 SMART
ZnF_C2H2 345 367 1.45e-2 SMART
low complexity region 375 399 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127820
AA Change: I210N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116799
Gene: ENSMUSG00000037868
AA Change: I210N

DomainStartEndE-ValueType
Pfam:DUF3446 36 126 1.3e-27 PFAM
low complexity region 132 159 N/A INTRINSIC
low complexity region 214 240 N/A INTRINSIC
low complexity region 254 263 N/A INTRINSIC
ZnF_C2H2 279 303 1.06e-4 SMART
ZnF_C2H2 309 331 2.91e-2 SMART
ZnF_C2H2 337 359 1.45e-2 SMART
low complexity region 367 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130933
Predicted Effect probably benign
Transcript: ENSMUST00000145754
SMART Domains Protein: ENSMUSP00000116621
Gene: ENSMUSG00000037868

DomainStartEndE-ValueType
Pfam:DUF3446 107 197 4.4e-28 PFAM
low complexity region 203 230 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145936
AA Change: I281N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115709
Gene: ENSMUSG00000037868
AA Change: I281N

DomainStartEndE-ValueType
Pfam:DUF3446 107 197 3.7e-29 PFAM
low complexity region 203 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146986
SMART Domains Protein: ENSMUSP00000118941
Gene: ENSMUSG00000037868

DomainStartEndE-ValueType
Pfam:DUF3446 44 72 7.5e-11 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 is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Egr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Egr2 APN 10 67540194 missense probably damaging 0.99
IGL02093:Egr2 APN 10 67540024 missense probably damaging 1.00
Puyol UTSW 10 67539903 frame shift probably null
R0045:Egr2 UTSW 10 67540480 missense probably benign 0.01
R1572:Egr2 UTSW 10 67539975 missense probably damaging 1.00
R1992:Egr2 UTSW 10 67540027 missense probably damaging 0.99
R2139:Egr2 UTSW 10 67540872 missense probably damaging 0.99
R3012:Egr2 UTSW 10 67539903 frame shift probably null
R4454:Egr2 UTSW 10 67539903 frame shift probably null
R4455:Egr2 UTSW 10 67539903 frame shift probably null
R4458:Egr2 UTSW 10 67539903 frame shift probably null
R4462:Egr2 UTSW 10 67539903 frame shift probably null
R4903:Egr2 UTSW 10 67538333 missense probably damaging 1.00
R5133:Egr2 UTSW 10 67539775 missense probably damaging 0.99
R5566:Egr2 UTSW 10 67540766 nonsense probably null
Posted On2014-05-07