Incidental Mutation 'IGL02068:Esm1'
| ID |
185714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Esm1
|
| Ensembl Gene |
ENSMUSG00000042379 |
| Gene Name |
endothelial cell-specific molecule 1 |
| Synonyms |
0610042H23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL02068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113346193-113354632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 113346630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 85
(F85C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038144]
[ENSMUST00000122399]
|
| AlphaFold |
Q9QYY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038144
AA Change: F85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040187
Gene: ENSMUSG00000042379
AA Change: F85C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IB
|
26 |
101 |
2.51e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122399
|
| SMART Domains |
Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
214 |
9.28e-70 |
SMART |
|
| 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 secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
A |
14: 68,814,558 (GRCm39) |
I140F |
probably benign |
Het |
| Cfap58 |
T |
C |
19: 47,974,951 (GRCm39) |
L704P |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,865,827 (GRCm39) |
V805A |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,951,871 (GRCm39) |
E1876G |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 134,373,277 (GRCm39) |
E548V |
probably benign |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Fcer1a |
C |
T |
1: 173,053,071 (GRCm39) |
G42R |
probably damaging |
Het |
| Fcer1g |
A |
T |
1: 171,058,760 (GRCm39) |
Y43N |
probably damaging |
Het |
| Grik1 |
G |
T |
16: 87,737,539 (GRCm39) |
T585K |
possibly damaging |
Het |
| Hnf4g |
T |
C |
3: 3,709,636 (GRCm39) |
I184T |
probably benign |
Het |
| Hsd11b1 |
G |
A |
1: 192,904,354 (GRCm39) |
R282* |
probably null |
Het |
| Lig1 |
T |
A |
7: 13,026,377 (GRCm39) |
|
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,222 (GRCm39) |
K92E |
possibly damaging |
Het |
| Phip |
A |
G |
9: 82,827,861 (GRCm39) |
S184P |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,592,971 (GRCm39) |
G1714D |
probably damaging |
Het |
| Plppr4 |
A |
G |
3: 117,125,433 (GRCm39) |
|
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,248,646 (GRCm39) |
R356Q |
probably damaging |
Het |
| Rasgrp1 |
C |
T |
2: 117,131,059 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
C |
T |
2: 119,613,135 (GRCm39) |
E138K |
probably benign |
Het |
| Sidt2 |
A |
C |
9: 45,856,962 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
A |
G |
13: 58,706,411 (GRCm39) |
L610P |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,858,599 (GRCm39) |
|
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,601 (GRCm39) |
A444V |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,092,899 (GRCm39) |
E1459G |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,966,497 (GRCm39) |
L366P |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,406,694 (GRCm39) |
H181Q |
probably damaging |
Het |
| Wrn |
C |
A |
8: 33,800,777 (GRCm39) |
G612V |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,945 (GRCm39) |
Y595H |
probably damaging |
Het |
|
| Other mutations in Esm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:Esm1
|
APN |
13 |
113,353,216 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02869:Esm1
|
APN |
13 |
113,346,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Esm1
|
UTSW |
13 |
113,353,230 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0730:Esm1
|
UTSW |
13 |
113,350,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1754:Esm1
|
UTSW |
13 |
113,353,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Esm1
|
UTSW |
13 |
113,346,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Esm1
|
UTSW |
13 |
113,346,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4993:Esm1
|
UTSW |
13 |
113,349,933 (GRCm39) |
nonsense |
probably null |
|
|
R4994:Esm1
|
UTSW |
13 |
113,349,965 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5075:Esm1
|
UTSW |
13 |
113,349,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Esm1
|
UTSW |
13 |
113,353,201 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6392:Esm1
|
UTSW |
13 |
113,346,283 (GRCm39) |
intron |
probably benign |
|
|
R7679:Esm1
|
UTSW |
13 |
113,346,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation