Incidental Mutation 'IGL02250:Emcn'
| ID |
286367 |
| 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 # |
IGL02250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 137124747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119475]
[ENSMUST00000122064]
[ENSMUST00000197511]
|
| AlphaFold |
Q9R0H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119475
|
| SMART Domains |
Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
248 |
5.2e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122064
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
T |
A |
7: 28,329,135 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Areg |
T |
A |
5: 91,288,967 (GRCm39) |
I91K |
possibly damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,993 (GRCm39) |
R79C |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,819,054 (GRCm39) |
I105N |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,756,337 (GRCm39) |
I1090N |
probably damaging |
Het |
| Ccdc90b |
T |
A |
7: 92,223,823 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,721,939 (GRCm39) |
F221I |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,379,246 (GRCm39) |
A62V |
probably damaging |
Het |
| Cntn5 |
G |
A |
9: 10,145,336 (GRCm39) |
R125C |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,352,240 (GRCm39) |
D321E |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,550 (GRCm39) |
|
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,088,166 (GRCm39) |
S184T |
probably benign |
Het |
| Fry |
A |
T |
5: 150,326,899 (GRCm39) |
|
probably benign |
Het |
| Gas2 |
T |
A |
7: 51,537,786 (GRCm39) |
M37K |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,297,361 (GRCm39) |
S100G |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,052 (GRCm39) |
C49R |
probably damaging |
Het |
| Lhx2 |
T |
A |
2: 38,244,845 (GRCm39) |
D236E |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,042,000 (GRCm39) |
S1273T |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,359,557 (GRCm39) |
I138T |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,460,251 (GRCm39) |
Y66* |
probably null |
Het |
| Nup160 |
A |
G |
2: 90,539,214 (GRCm39) |
R798G |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,222 (GRCm39) |
I250V |
probably damaging |
Het |
| Or8b54 |
C |
A |
9: 38,686,850 (GRCm39) |
Q100K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,706,893 (GRCm39) |
G548E |
probably benign |
Het |
| Radil |
A |
G |
5: 142,529,529 (GRCm39) |
S56P |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,489 (GRCm39) |
M1137K |
probably benign |
Het |
| Serpina1c |
T |
G |
12: 103,863,487 (GRCm39) |
M238L |
probably benign |
Het |
| Tbc1d14 |
A |
G |
5: 36,728,863 (GRCm39) |
S168P |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,487,387 (GRCm39) |
S498P |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,312,135 (GRCm39) |
Y607H |
probably damaging |
Het |
| Vipr1 |
A |
G |
9: 121,494,255 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,356 (GRCm39) |
T2199I |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,509,883 (GRCm39) |
S86P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,489,994 (GRCm39) |
K1254E |
possibly damaging |
Het |
| Zfp873 |
T |
A |
10: 81,894,252 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation