Incidental Mutation 'R2349:Esam'
| ID |
247393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esam
|
| Ensembl Gene |
ENSMUSG00000001946 |
| Gene Name |
endothelial cell-specific adhesion molecule |
| Synonyms |
W117m, 2310008D05Rik |
| MMRRC Submission |
040331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R2349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37439385-37449615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37439527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 4
(Q4P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002011]
[ENSMUST00000048604]
[ENSMUST00000123198]
[ENSMUST00000144596]
[ENSMUST00000146860]
[ENSMUST00000211060]
|
| AlphaFold |
Q925F2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002011
AA Change: Q4P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946
AA Change: Q4P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
IG
|
39 |
153 |
4.82e-6 |
SMART |
|
IGc2
|
168 |
234 |
1.17e-4 |
SMART |
|
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048604
|
| SMART Domains |
Protein: ENSMUSP00000043329
Gene: ENSMUSG00000042138
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
98 |
N/A |
INTRINSIC |
|
Pfam:Myb_DNA-bind_4
|
101 |
199 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123198
|
| SMART Domains |
Protein: ENSMUSP00000116300
Gene: ENSMUSG00000001946
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
9 |
72 |
1e-40 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146860
|
| SMART Domains |
Protein: ENSMUSP00000122473
Gene: ENSMUSG00000001946
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
9 |
123 |
4.82e-6 |
SMART |
|
IGc2
|
138 |
204 |
1.17e-4 |
SMART |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211060
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhbit a decrease in body weight, impaired neutrophil transmigration and decreased immune and VEGF-stimulated vascular permeability. Tumor growth is inhibited due to decreased pathological angiogenesis in homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
| Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
| Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
| Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
| Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
| Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
| Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
| Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
probably benign |
Het |
|
| Other mutations in Esam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03180:Esam
|
APN |
9 |
37,445,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03408:Esam
|
APN |
9 |
37,445,949 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0755:Esam
|
UTSW |
9 |
37,447,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1657:Esam
|
UTSW |
9 |
37,448,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:Esam
|
UTSW |
9 |
37,448,426 (GRCm39) |
splice site |
probably null |
|
|
R4373:Esam
|
UTSW |
9 |
37,445,492 (GRCm39) |
missense |
probably benign |
|
|
R4669:Esam
|
UTSW |
9 |
37,447,952 (GRCm39) |
nonsense |
probably null |
|
|
R6175:Esam
|
UTSW |
9 |
37,439,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6357:Esam
|
UTSW |
9 |
37,449,076 (GRCm39) |
makesense |
probably null |
|
|
R7293:Esam
|
UTSW |
9 |
37,449,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:Esam
|
UTSW |
9 |
37,448,863 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7953:Esam
|
UTSW |
9 |
37,448,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8043:Esam
|
UTSW |
9 |
37,448,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8336:Esam
|
UTSW |
9 |
37,448,362 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8790:Esam
|
UTSW |
9 |
37,442,927 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCCAGTCGGTCTCCAC -3'
(R):5'- GGCAGAAAGTGTAGCACCAACC -3'
Sequencing Primer
(F):5'- AGTCGGTCTCCACCCCAC -3'
(R):5'- GTGTAGCACCAACCAGTGATGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation