Incidental Mutation 'R4057:Emcn'
| ID |
314279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emcn
|
| Ensembl Gene |
ENSMUSG00000054690 |
| Gene Name |
endomucin |
| Synonyms |
0610012K22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4057 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 137085660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 86
(T86K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119475]
[ENSMUST00000122064]
[ENSMUST00000197511]
|
| AlphaFold |
Q9R0H2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119475
AA Change: T86K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: T86K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
248 |
5.2e-135 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122064
AA Change: T86K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: T86K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
261 |
4e-112 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128985
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197511
AA Change: T86K
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: T86K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
92 |
1.3e-38 |
PFAM |
|
Pfam:Endomucin
|
89 |
219 |
4.8e-80 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (36/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,653 (GRCm39) |
Y377H |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,124,385 (GRCm39) |
E347G |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,509 (GRCm39) |
M1686K |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,135 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,290,250 (GRCm39) |
Y2361C |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Ltbp1 |
G |
T |
17: 75,617,189 (GRCm39) |
G725C |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,270,971 (GRCm39) |
M144K |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,711 (GRCm39) |
V5000D |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,127,120 (GRCm39) |
A3534E |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,270,071 (GRCm39) |
C833S |
probably benign |
Het |
| Npas1 |
C |
A |
7: 16,208,712 (GRCm39) |
R55L |
probably damaging |
Het |
| Or52n20 |
A |
G |
7: 104,320,476 (GRCm39) |
K189R |
probably damaging |
Het |
| P2ry10 |
T |
C |
X: 106,146,862 (GRCm39) |
C266R |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,331,950 (GRCm39) |
E351G |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,748,563 (GRCm39) |
R1751W |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,150 (GRCm39) |
|
probably null |
Het |
| Por |
A |
G |
5: 135,760,428 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,382,658 (GRCm39) |
I158S |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Serpina3m |
A |
C |
12: 104,357,996 (GRCm39) |
|
probably benign |
Het |
| Sox5 |
G |
T |
6: 144,062,248 (GRCm39) |
R135S |
probably damaging |
Het |
| Stag2 |
A |
G |
X: 41,313,819 (GRCm39) |
T228A |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
|
| Other mutations in Emcn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Emcn
|
APN |
3 |
137,085,638 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGGTTCCTTATTAATCTGTAGATT -3'
(R):5'- CAGTAACTTGCCTTTGTAATAAGATGA -3'
Sequencing Primer
(F):5'- TGATTGCAAGCCATTTCTCAAC -3'
(R):5'- GCCAGGTTAGTTCAACATGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation