Incidental Mutation 'R2471:Emcn'
| ID |
253075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emcn
|
| Ensembl Gene |
ENSMUSG00000054690 |
| Gene Name |
endomucin |
| Synonyms |
0610012K22Rik |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
137046824-137136830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137109772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 138
(T138M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112603
(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 damaging
Transcript: ENSMUST00000122064
AA Change: T138M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: T138M
| 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: T100M
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: T100M
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
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 |
|
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'- TTGCTCTGAGGTTTCCTACAATCAC -3'
(R):5'- TAGCTCCTCACGTATATCCTGG -3'
Sequencing Primer
(F):5'- CAAAGACCCATGAGTCTATTATCTGG -3'
(R):5'- ATCCTGGATATTTCTAGTTTCAGCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation