Incidental Mutation 'IGL00817:Emcn'
| ID |
10471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Emcn
|
| Ensembl Gene |
ENSMUSG00000054690 |
| Gene Name |
endomucin |
| Synonyms |
0610012K22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137085638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 79
(T79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119475]
[ENSMUST00000122064]
[ENSMUST00000197511]
|
| AlphaFold |
Q9R0H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119475
AA Change: T79A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: T79A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
248 |
5.2e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122064
AA Change: T79A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: T79A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
261 |
4e-112 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197511
AA Change: T79A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: T79A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
92 |
1.3e-38 |
PFAM |
|
Pfam:Endomucin
|
89 |
219 |
4.8e-80 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abracl |
A |
T |
10: 17,887,379 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,112,460 (GRCm39) |
M1332V |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,259 (GRCm39) |
Y465C |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,935,703 (GRCm39) |
T8K |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Homez |
G |
A |
14: 55,094,575 (GRCm39) |
R27* |
probably null |
Het |
| Ifnlr1 |
A |
G |
4: 135,431,596 (GRCm39) |
T262A |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,596,079 (GRCm39) |
D231G |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,087,874 (GRCm39) |
D62G |
probably damaging |
Het |
| Mtss1 |
G |
A |
15: 58,815,481 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,249,430 (GRCm39) |
K510R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,133,207 (GRCm39) |
K3444E |
probably damaging |
Het |
| Pcdha12 |
C |
A |
18: 37,154,986 (GRCm39) |
H568Q |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,995,225 (GRCm39) |
V15A |
possibly damaging |
Het |
| Polr2h |
T |
C |
16: 20,540,655 (GRCm39) |
|
probably benign |
Het |
| Psmb8 |
G |
A |
17: 34,419,703 (GRCm39) |
V186I |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,770,129 (GRCm39) |
Y750H |
probably benign |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,541,799 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,720,232 (GRCm39) |
L240P |
possibly damaging |
Het |
|
| Other mutations in Emcn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02250:Emcn
|
APN |
3 |
137,124,747 (GRCm39) |
splice site |
probably benign |
|
|
IGL03035:Emcn
|
APN |
3 |
137,078,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0101:Emcn
|
UTSW |
3 |
137,047,001 (GRCm39) |
start codon destroyed |
possibly damaging |
0.51 |
|
R0180:Emcn
|
UTSW |
3 |
137,124,755 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0329:Emcn
|
UTSW |
3 |
137,122,575 (GRCm39) |
splice site |
probably benign |
|
|
R0348:Emcn
|
UTSW |
3 |
137,078,608 (GRCm39) |
nonsense |
probably null |
|
|
R1475:Emcn
|
UTSW |
3 |
137,085,668 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2224:Emcn
|
UTSW |
3 |
137,109,778 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2226:Emcn
|
UTSW |
3 |
137,109,778 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2227:Emcn
|
UTSW |
3 |
137,109,778 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2471:Emcn
|
UTSW |
3 |
137,109,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4057:Emcn
|
UTSW |
3 |
137,085,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4456:Emcn
|
UTSW |
3 |
137,085,608 (GRCm39) |
nonsense |
probably null |
|
|
R4823:Emcn
|
UTSW |
3 |
137,129,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5043:Emcn
|
UTSW |
3 |
137,097,362 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5326:Emcn
|
UTSW |
3 |
137,085,638 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5542:Emcn
|
UTSW |
3 |
137,085,638 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6925:Emcn
|
UTSW |
3 |
137,124,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7137:Emcn
|
UTSW |
3 |
137,109,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7148:Emcn
|
UTSW |
3 |
137,122,855 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7265:Emcn
|
UTSW |
3 |
137,124,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7265:Emcn
|
UTSW |
3 |
137,122,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8243:Emcn
|
UTSW |
3 |
137,097,411 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8436:Emcn
|
UTSW |
3 |
137,129,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9009:Emcn
|
UTSW |
3 |
137,124,775 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9214:Emcn
|
UTSW |
3 |
137,047,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-12-06 |
Incidental Mutation