Incidental Mutation 'IGL03408:Esam'
ID |
421673 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esam
|
Ensembl Gene |
ENSMUSG00000001946 |
Gene Name |
endothelial cell-specific adhesion molecule |
Synonyms |
W117m, 2310008D05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL03408
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
37439385-37449615 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37445949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 162
(R162S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002008]
[ENSMUST00000002011]
[ENSMUST00000123198]
[ENSMUST00000144596]
[ENSMUST00000146860]
[ENSMUST00000214142]
[ENSMUST00000215271]
[ENSMUST00000215957]
|
AlphaFold |
Q925F2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002008
|
SMART Domains |
Protein: ENSMUSP00000002008 Gene: ENSMUSG00000001943
Domain | Start | End | E-Value | Type |
IGv
|
41 |
124 |
4.03e-8 |
SMART |
IGc2
|
158 |
225 |
1.06e-7 |
SMART |
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000002011
AA Change: R192S
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000002011 Gene: ENSMUSG00000001946 AA Change: R192S
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: ENSMUST00000123198
|
SMART Domains |
Protein: ENSMUSP00000116300 Gene: ENSMUSG00000001946
Domain | Start | End | E-Value | Type |
Blast:IG
|
9 |
72 |
1e-40 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131832
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144596
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146860
AA Change: R162S
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000122473 Gene: ENSMUSG00000001946 AA Change: R162S
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 |
unknown
Transcript: ENSMUST00000214142
AA Change: A6S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215271
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215957
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
Ccdc85a |
T |
A |
11: 28,526,528 (GRCm39) |
H360L |
probably damaging |
Het |
Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
Fbxl17 |
G |
A |
17: 63,387,541 (GRCm39) |
R133* |
probably null |
Het |
Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
Idh3a |
A |
G |
9: 54,504,206 (GRCm39) |
N189D |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
Slc25a32 |
G |
A |
15: 38,963,425 (GRCm39) |
A132V |
probably benign |
Het |
Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
Suv39h2 |
T |
C |
2: 3,460,913 (GRCm39) |
N183S |
probably damaging |
Het |
Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
Wfdc2 |
T |
A |
2: 164,405,283 (GRCm39) |
C61* |
probably null |
Het |
Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
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 |
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 |
R2349:Esam
|
UTSW |
9 |
37,439,527 (GRCm39) |
missense |
probably benign |
|
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 |
|
|
Posted On |
2016-08-02 |