Incidental Mutation 'R1070:Vcam1'
| ID |
86155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vcam1
|
| Ensembl Gene |
ENSMUSG00000027962 |
| Gene Name |
vascular cell adhesion molecule 1 |
| Synonyms |
CD106, Vcam-1 |
| MMRRC Submission |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.504)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
115903669-115923337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115904552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 732
(V732M)
|
| 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: V732M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029574
Gene: ENSMUSG00000027962
AA Change: V732M
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCAAGCAGCCACTTTGCCTTC -3'
(R):5'- TGGTCCTCAGTGCAGCTTTTATCG -3'
Sequencing Primer
(F):5'- CTTTACTGAGAAGGGTTCTGGGAAG -3'
(R):5'- GTTGTACTGTTACCATAAAACACAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation