Incidental Mutation 'R4297:Vcam1'
| ID |
323382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vcam1
|
| Ensembl Gene |
ENSMUSG00000027962 |
| Gene Name |
vascular cell adhesion molecule 1 |
| Synonyms |
CD106, Vcam-1 |
| MMRRC Submission |
041085-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.554)
|
| Stock # |
R4297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
115903669-115923337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115910892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 502
(V502E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029574]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029574
AA Change: V502E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029574
Gene: ENSMUSG00000027962
AA Change: V502E
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
85% (33/39) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
| Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
| Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
| Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
probably benign |
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 |
|
IGL01546:Vcam1
|
APN |
3 |
115,909,591 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTCCTGAATGCTAATGC -3'
(R):5'- GTGTATCCCTTTGACCATCTGG -3'
Sequencing Primer
(F):5'- AATTTGGTTTGCTTTATGGAGAATG -3'
(R):5'- CCATCTGGAGATTGAATTACTGAAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation