Incidental Mutation 'R1475:Emcn'
| ID |
163983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emcn
|
| Ensembl Gene |
ENSMUSG00000054690 |
| Gene Name |
endomucin |
| Synonyms |
0610012K22Rik |
| MMRRC Submission |
039528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137085668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 89
(H89Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119475]
[ENSMUST00000122064]
[ENSMUST00000197511]
|
| AlphaFold |
Q9R0H2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119475
AA Change: H89Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: H89Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Endomucin
|
1 |
248 |
5.2e-135 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122064
AA Change: H89Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: H89Y
| 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: H89Y
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: H89Y
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (46/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
A |
T |
8: 122,267,327 (GRCm39) |
|
probably benign |
Het |
| 9230112D13Rik |
T |
A |
14: 34,234,012 (GRCm39) |
D93V |
unknown |
Het |
| Aatk |
G |
A |
11: 119,901,714 (GRCm39) |
T894M |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,333,313 (GRCm39) |
I479T |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,987,278 (GRCm39) |
I431T |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,664,979 (GRCm39) |
K1267R |
possibly damaging |
Het |
| Bphl |
A |
C |
13: 34,244,507 (GRCm39) |
D208A |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,018,298 (GRCm39) |
D308G |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,718,674 (GRCm39) |
R208H |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,254,175 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,172 (GRCm39) |
S195G |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,951,495 (GRCm39) |
L144S |
probably damaging |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dffa |
T |
A |
4: 149,201,935 (GRCm39) |
L171Q |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,218,728 (GRCm39) |
P452S |
probably damaging |
Het |
| Fam78b |
T |
A |
1: 166,829,346 (GRCm39) |
I71N |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,779,447 (GRCm39) |
S37P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,472 (GRCm39) |
R455H |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Fcamr |
T |
A |
1: 130,742,221 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
T |
C |
19: 6,996,242 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,817,539 (GRCm39) |
D4424V |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,165,142 (GRCm39) |
|
probably null |
Het |
| Glce |
T |
C |
9: 61,968,210 (GRCm39) |
T314A |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,012 (GRCm39) |
Q575R |
possibly damaging |
Het |
| Il23r |
C |
A |
6: 67,429,280 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
T |
A |
15: 79,368,831 (GRCm39) |
E383V |
probably damaging |
Het |
| Lrsam1 |
G |
T |
2: 32,844,277 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,882,797 (GRCm39) |
|
probably null |
Het |
| Myf5 |
A |
G |
10: 107,320,515 (GRCm39) |
V190A |
probably benign |
Het |
| Nmnat2 |
G |
A |
1: 152,950,441 (GRCm39) |
R42H |
probably damaging |
Het |
| Or8b42 |
T |
A |
9: 38,342,160 (GRCm39) |
V194D |
probably benign |
Het |
| Or8k20 |
A |
T |
2: 86,105,905 (GRCm39) |
*309R |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 12,890,737 (GRCm39) |
K380M |
probably damaging |
Het |
| Pgd |
T |
C |
4: 149,241,232 (GRCm39) |
T226A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 71,965,453 (GRCm39) |
T127A |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,165 (GRCm39) |
D954G |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,882 (GRCm39) |
K20E |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,801,047 (GRCm39) |
F236I |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,885,785 (GRCm39) |
N63S |
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,662,745 (GRCm39) |
M145K |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,423,253 (GRCm39) |
L3152I |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,787 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,830,645 (GRCm39) |
I929N |
probably benign |
Het |
| Zfp874b |
A |
T |
13: 67,622,211 (GRCm39) |
|
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 |
|
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 |
|
|
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'- AGCAATGCAGTAGTCTGCAATAGAAACT -3'
(R):5'- TGCTCTAACACCACCTAATGAGGCTAA -3'
Sequencing Primer
(F):5'- GTAGTCTGCAATAGAAACTTGCTG -3'
(R):5'- atgtcatttctcactgctgttc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation