Incidental Mutation 'R0101:Emcn'
| ID |
33188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emcn
|
| Ensembl Gene |
ENSMUSG00000054690 |
| Gene Name |
endomucin |
| Synonyms |
0610012K22Rik |
| MMRRC Submission |
038387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0101 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 137047001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119475]
[ENSMUST00000122064]
[ENSMUST00000197511]
|
| AlphaFold |
Q9R0H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119475
AA Change: M1L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
248 |
5.2e-135 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122064
AA Change: M1L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: M1L
| 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: M1L
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: M1L
| 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 |
0.6485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,771,341 (GRCm39) |
Q41R |
probably benign |
Het |
| Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
| Chrm2 |
G |
T |
6: 36,501,430 (GRCm39) |
C429F |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
| Cyld |
T |
A |
8: 89,444,928 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,395 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
| Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
| Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
| Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
| Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
| Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
| Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
| Sema5b |
T |
C |
16: 35,483,472 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
| St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
| Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
| Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
T |
A |
5: 117,473,134 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCACAGCCTTTTCAGCCGACC -3'
(R):5'- TGTTCAGCCAATCAAGCAGCAACTC -3'
Sequencing Primer
(F):5'- AGTTAGAAAGCTCTCTGGCCC -3'
(R):5'- AGCAGCAACTCATCAGAGAAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation