Incidental Mutation 'R4456:Emcn'
| ID |
329180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emcn
|
| Ensembl Gene |
ENSMUSG00000054690 |
| Gene Name |
endomucin |
| Synonyms |
0610012K22Rik |
| MMRRC Submission |
041716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4456 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 137085608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 69
(K69*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119475]
[ENSMUST00000122064]
[ENSMUST00000197511]
|
| AlphaFold |
Q9R0H2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119475
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: K69*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
248 |
5.2e-135 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122064
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: K69*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
261 |
4e-112 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128985
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197511
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: K69*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (42/45) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,833,071 (GRCm39) |
F1210L |
probably benign |
Het |
| Amfr |
C |
T |
8: 94,711,568 (GRCm39) |
A323T |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cdc42ep1 |
A |
G |
15: 78,734,091 (GRCm39) |
E397G |
possibly damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,821,138 (GRCm39) |
T1250A |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,229,800 (GRCm39) |
K2642N |
probably benign |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fbxo38 |
G |
T |
18: 62,659,320 (GRCm39) |
R326S |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,061,808 (GRCm39) |
S3P |
probably benign |
Het |
| Glp1r |
G |
T |
17: 31,137,949 (GRCm39) |
E127* |
probably null |
Het |
| Gnmt |
G |
T |
17: 47,039,910 (GRCm39) |
H56Q |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,763,459 (GRCm39) |
T48I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,515,210 (GRCm39) |
C2878S |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,486,785 (GRCm39) |
Y1290C |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,403,707 (GRCm39) |
Y76C |
probably damaging |
Het |
| Mri1 |
C |
A |
8: 84,983,035 (GRCm39) |
A129S |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,977,407 (GRCm39) |
H1253L |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mthfsd |
C |
T |
8: 121,832,504 (GRCm39) |
V63I |
possibly damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,551,205 (GRCm39) |
V2653A |
probably benign |
Het |
| Nckap5 |
A |
T |
1: 125,842,472 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,802,807 (GRCm39) |
V1378M |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,507 (GRCm39) |
S101P |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rasl12 |
A |
G |
9: 65,305,866 (GRCm39) |
K7R |
probably null |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,858 (GRCm39) |
H536R |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
A |
C |
17: 51,089,369 (GRCm39) |
S604A |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,514,567 (GRCm39) |
V400E |
probably damaging |
Het |
| Tom1l2 |
G |
T |
11: 60,243,641 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
A |
G |
13: 55,865,977 (GRCm39) |
D147G |
possibly 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 |
|
R4057:Emcn
|
UTSW |
3 |
137,085,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TTCAATGAACACATTCCTCTTTAGAT -3'
(R):5'- AACAGTAACTTGCCTTTGTAATAAGA -3'
Sequencing Primer
(F):5'- GCAAGCCATTTCTCAACT -3'
(R):5'- TCATCCAGTTCAGAGCAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation