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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:FYVE_2
|
8 |
124 |
3.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159880
|
SMART Domains |
Protein: ENSMUSP00000125469 Gene: ENSMUSG00000041831
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |