Incidental Mutation 'R4250:Ezr'
| ID |
321321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ezr
|
| Ensembl Gene |
ENSMUSG00000052397 |
| Gene Name |
ezrin |
| Synonyms |
Vil2, cytovillin, ezrin, p81 |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
7005530-7050179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7022196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 94
(I94N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064234]
|
| AlphaFold |
P26040 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064234
AA Change: I94N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
AA Change: I94N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Ezr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Ezr
|
APN |
17 |
7,009,888 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACAGAATCACCTGCTCCC -3'
(R):5'- GTGATAATGGGATGACAACTCTGAG -3'
Sequencing Primer
(F):5'- AGACAGGGGCTTGTGCTC -3'
(R):5'- ACAACTCTGAGTCACTGGTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation