Incidental Mutation 'IGL01783:Ezr'
ID 154223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ezr
Ensembl Gene ENSMUSG00000052397
Gene Name ezrin
Synonyms Vil2, cytovillin, ezrin, p81
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01783
Quality Score
Status
Chromosome 17
Chromosomal Location 7005530-7050179 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 7009888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064234] [ENSMUST00000097430] [ENSMUST00000159394] [ENSMUST00000159880] [ENSMUST00000160483] [ENSMUST00000162635] [ENSMUST00000161118]
AlphaFold P26040
Predicted Effect probably benign
Transcript: ENSMUST00000064234
SMART Domains Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397

DomainStartEndE-ValueType
B41 1 206 7.74e-79 SMART
FERM_C 210 299 1.34e-35 SMART
Pfam:ERM 338 586 2.3e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097430
SMART Domains Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 6e-25 PFAM
low complexity region 162 170 N/A INTRINSIC
C2 321 426 9.17e-15 SMART
C2 478 601 1.92e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131131
Predicted Effect probably benign
Transcript: ENSMUST00000159394
SMART Domains Protein: ENSMUSP00000124146
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 3.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159880
SMART Domains Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
C2 116 221 9.17e-15 SMART
C2 273 396 1.92e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160483
SMART Domains Protein: ENSMUSP00000123996
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
C2 126 231 9.17e-15 SMART
C2 283 406 1.92e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162635
SMART Domains Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831

DomainStartEndE-ValueType
Pfam:FYVE_2 8 124 4.3e-27 PFAM
low complexity region 158 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161118
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality with abnormal intestinal villi morphology. Mice homozygous for a knock-down allele exhibit growth retardation, partial postnatal lethality, achlorhydria, and abnormal gastric parietal cell morphology and response to histamine stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,900 (GRCm39) Y166H possibly damaging Het
Abi3bp G A 16: 56,353,332 (GRCm39) probably null Het
Actrt3 T C 3: 30,652,624 (GRCm39) T157A probably benign Het
Adam26b T C 8: 43,974,798 (GRCm39) K68R probably benign Het
Adgrg7 A G 16: 56,568,282 (GRCm39) probably null Het
Ano6 T C 15: 95,860,143 (GRCm39) I755T possibly damaging Het
Basp1 T C 15: 25,364,953 (GRCm39) N15D unknown Het
Bod1l T C 5: 41,966,055 (GRCm39) N2670S probably benign Het
Btbd3 T A 2: 138,125,656 (GRCm39) I280N probably damaging Het
Cdh16 T A 8: 105,344,488 (GRCm39) Y17F probably damaging Het
Clmp G T 9: 40,693,703 (GRCm39) G307W possibly damaging Het
Clrn2 C A 5: 45,617,503 (GRCm39) Q125K probably benign Het
Ctnna3 C T 10: 63,656,248 (GRCm39) A276V possibly damaging Het
Dram2 A T 3: 106,480,972 (GRCm39) T172S possibly damaging Het
Dync2h1 G A 9: 7,118,822 (GRCm39) probably benign Het
Gbe1 T A 16: 70,275,257 (GRCm39) D352E probably damaging Het
Gbe1 T C 16: 70,198,743 (GRCm39) probably null Het
Gpr18 T A 14: 122,149,789 (GRCm39) M79L probably benign Het
Gss T C 2: 155,413,479 (GRCm39) Y196C probably damaging Het
Gtpbp1 T C 15: 79,600,398 (GRCm39) S444P probably damaging Het
Hecw1 C T 13: 14,452,878 (GRCm39) R712K probably damaging Het
Helz2 T G 2: 180,874,674 (GRCm39) D1940A probably damaging Het
Hmcn1 A T 1: 150,491,051 (GRCm39) V4166E possibly damaging Het
Klkb1 T C 8: 45,729,428 (GRCm39) Y297C probably damaging Het
Krt75 T A 15: 101,473,364 (GRCm39) I537F probably benign Het
Lrp1b T A 2: 41,202,584 (GRCm39) T1176S probably damaging Het
Nid2 T C 14: 19,818,745 (GRCm39) L413P probably benign Het
Or10ag57 T A 2: 87,218,187 (GRCm39) M46K possibly damaging Het
Or10ag57 G T 2: 87,218,182 (GRCm39) L44F probably benign Het
Or4c11 T C 2: 88,695,186 (GRCm39) L79P probably damaging Het
Or5t7 A G 2: 86,507,425 (GRCm39) V84A probably benign Het
Piwil1 A G 5: 128,820,890 (GRCm39) N272D probably benign Het
Ppfia3 T C 7: 45,009,481 (GRCm39) probably null Het
Prkg1 A G 19: 30,602,089 (GRCm39) V389A probably damaging Het
Sema3a C A 5: 13,611,767 (GRCm39) S344R probably damaging Het
Serpina3j T C 12: 104,284,750 (GRCm39) L309P probably damaging Het
Slc15a1 A G 14: 121,708,688 (GRCm39) probably null Het
Sp8 G T 12: 118,812,759 (GRCm39) A205S probably benign Het
Speer4a1 T A 5: 26,240,045 (GRCm39) Q235L possibly damaging Het
St6gal1 A G 16: 23,140,305 (GRCm39) T159A probably benign Het
Tbrg1 G T 9: 37,565,596 (GRCm39) P119T possibly damaging Het
Tmem59l T C 8: 70,939,874 (GRCm39) T32A probably damaging Het
Trmt13 G A 3: 116,376,561 (GRCm39) R277* probably null Het
Zfp316 A G 5: 143,248,631 (GRCm39) F205S unknown Het
Zfp418 G T 7: 7,184,448 (GRCm39) W137L possibly damaging Het
Zp3r A T 1: 130,526,603 (GRCm39) V200D possibly damaging Het
Other mutations in Ezr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02871:Ezr APN 17 7,009,789 (GRCm39) nonsense probably null
R0020:Ezr UTSW 17 7,010,126 (GRCm39) missense probably damaging 1.00
R0020:Ezr UTSW 17 7,010,126 (GRCm39) missense probably damaging 1.00
R0277:Ezr UTSW 17 7,022,164 (GRCm39) nonsense probably null
R0323:Ezr UTSW 17 7,022,164 (GRCm39) nonsense probably null
R0930:Ezr UTSW 17 7,021,398 (GRCm39) nonsense probably null
R1497:Ezr UTSW 17 7,010,107 (GRCm39) missense probably benign 0.07
R1669:Ezr UTSW 17 7,006,712 (GRCm39) missense probably damaging 1.00
R1801:Ezr UTSW 17 7,009,771 (GRCm39) missense possibly damaging 0.62
R2078:Ezr UTSW 17 7,050,041 (GRCm39) start codon destroyed probably null 0.23
R4250:Ezr UTSW 17 7,022,196 (GRCm39) missense probably damaging 1.00
R4448:Ezr UTSW 17 7,020,473 (GRCm39) missense probably benign 0.01
R4610:Ezr UTSW 17 7,007,121 (GRCm39) missense possibly damaging 0.71
R4691:Ezr UTSW 17 7,026,961 (GRCm39) missense probably benign
R4736:Ezr UTSW 17 7,008,975 (GRCm39) missense probably benign 0.42
R5327:Ezr UTSW 17 7,020,448 (GRCm39) missense probably damaging 1.00
R6564:Ezr UTSW 17 7,010,246 (GRCm39) missense probably damaging 0.99
R7863:Ezr UTSW 17 7,008,863 (GRCm39) missense probably damaging 1.00
R8788:Ezr UTSW 17 7,021,392 (GRCm39) missense probably benign 0.29
R8910:Ezr UTSW 17 7,023,299 (GRCm39) missense probably damaging 1.00
R9712:Ezr UTSW 17 7,020,394 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04