Incidental Mutation 'IGL01546:Vcam1'
ID |
90339 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vcam1
|
Ensembl Gene |
ENSMUSG00000027962 |
Gene Name |
vascular cell adhesion molecule 1 |
Synonyms |
CD106, Vcam-1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.554)
|
Stock # |
IGL01546
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
115903669-115923337 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115909591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 579
(C579R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029574
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029574]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029574
AA Change: C579R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029574 Gene: ENSMUSG00000027962 AA Change: C579R
Domain | Start | End | E-Value | Type |
IG
|
32 |
113 |
2.41e-6 |
SMART |
Pfam:C2-set
|
133 |
221 |
4.5e-27 |
PFAM |
IGc2
|
237 |
298 |
2.09e-15 |
SMART |
IGc2
|
326 |
390 |
8.38e-6 |
SMART |
Pfam:C2-set
|
421 |
509 |
7.2e-26 |
PFAM |
IGc2
|
525 |
586 |
7.35e-11 |
SMART |
IG
|
608 |
686 |
2.25e-6 |
SMART |
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197031
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010] PHENOTYPE: Most homozygous null mutants die by embryonic day 12.5 due to defective placenta and failure of chorion/allantois fusion, and heart developmental anomalies. Survivors are generally normal, but have high numbers of circulating blood mononuclear leukocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
Arg2 |
T |
C |
12: 79,196,633 (GRCm39) |
|
probably benign |
Het |
Catip |
T |
C |
1: 74,401,954 (GRCm39) |
L43P |
probably damaging |
Het |
Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
Mfsd4b2 |
A |
T |
10: 39,797,471 (GRCm39) |
W295R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,119 (GRCm39) |
T159A |
probably benign |
Het |
Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
Taar8a |
A |
T |
10: 23,952,813 (GRCm39) |
Y139F |
possibly damaging |
Het |
Zdhhc17 |
C |
T |
10: 110,782,054 (GRCm39) |
V547M |
probably damaging |
Het |
|
Other mutations in Vcam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00717:Vcam1
|
APN |
3 |
115,908,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01548:Vcam1
|
APN |
3 |
115,909,600 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02070:Vcam1
|
APN |
3 |
115,919,646 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02353:Vcam1
|
APN |
3 |
115,909,543 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02360:Vcam1
|
APN |
3 |
115,909,543 (GRCm39) |
missense |
possibly damaging |
0.53 |
K7371:Vcam1
|
UTSW |
3 |
115,918,298 (GRCm39) |
missense |
probably benign |
0.00 |
R0310:Vcam1
|
UTSW |
3 |
115,908,065 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0319:Vcam1
|
UTSW |
3 |
115,909,709 (GRCm39) |
missense |
probably benign |
0.01 |
R0468:Vcam1
|
UTSW |
3 |
115,909,595 (GRCm39) |
nonsense |
probably null |
|
R0638:Vcam1
|
UTSW |
3 |
115,910,908 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1070:Vcam1
|
UTSW |
3 |
115,904,552 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1728:Vcam1
|
UTSW |
3 |
115,908,164 (GRCm39) |
missense |
probably benign |
0.16 |
R1784:Vcam1
|
UTSW |
3 |
115,908,164 (GRCm39) |
missense |
probably benign |
0.16 |
R1956:Vcam1
|
UTSW |
3 |
115,919,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Vcam1
|
UTSW |
3 |
115,919,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R3052:Vcam1
|
UTSW |
3 |
115,918,079 (GRCm39) |
splice site |
probably null |
|
R3832:Vcam1
|
UTSW |
3 |
115,908,140 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4297:Vcam1
|
UTSW |
3 |
115,910,892 (GRCm39) |
missense |
probably benign |
|
R4801:Vcam1
|
UTSW |
3 |
115,909,584 (GRCm39) |
missense |
probably damaging |
0.98 |
R4802:Vcam1
|
UTSW |
3 |
115,909,584 (GRCm39) |
missense |
probably damaging |
0.98 |
R4970:Vcam1
|
UTSW |
3 |
115,910,941 (GRCm39) |
missense |
probably benign |
0.00 |
R5073:Vcam1
|
UTSW |
3 |
115,918,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Vcam1
|
UTSW |
3 |
115,918,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Vcam1
|
UTSW |
3 |
115,910,941 (GRCm39) |
missense |
probably benign |
0.00 |
R5597:Vcam1
|
UTSW |
3 |
115,919,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R6035:Vcam1
|
UTSW |
3 |
115,919,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Vcam1
|
UTSW |
3 |
115,919,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R6120:Vcam1
|
UTSW |
3 |
115,918,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R6617:Vcam1
|
UTSW |
3 |
115,919,711 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7232:Vcam1
|
UTSW |
3 |
115,919,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7350:Vcam1
|
UTSW |
3 |
115,908,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R7384:Vcam1
|
UTSW |
3 |
115,910,877 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7571:Vcam1
|
UTSW |
3 |
115,908,032 (GRCm39) |
nonsense |
probably null |
|
R7606:Vcam1
|
UTSW |
3 |
115,914,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7742:Vcam1
|
UTSW |
3 |
115,909,734 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8151:Vcam1
|
UTSW |
3 |
115,918,128 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8965:Vcam1
|
UTSW |
3 |
115,922,422 (GRCm39) |
nonsense |
probably null |
|
R8997:Vcam1
|
UTSW |
3 |
115,910,977 (GRCm39) |
missense |
probably benign |
|
R9182:Vcam1
|
UTSW |
3 |
115,911,004 (GRCm39) |
missense |
probably benign |
|
R9224:Vcam1
|
UTSW |
3 |
115,904,592 (GRCm39) |
nonsense |
probably null |
|
R9540:Vcam1
|
UTSW |
3 |
115,911,019 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9725:Vcam1
|
UTSW |
3 |
115,922,287 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9729:Vcam1
|
UTSW |
3 |
115,911,105 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vcam1
|
UTSW |
3 |
115,922,990 (GRCm39) |
missense |
not run |
|
|
Posted On |
2013-12-03 |