Incidental Mutation 'R8997:Vcam1'
| ID |
684760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vcam1
|
| Ensembl Gene |
ENSMUSG00000027962 |
| Gene Name |
vascular cell adhesion molecule 1 |
| Synonyms |
CD106, Vcam-1 |
| MMRRC Submission |
068828-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.554)
|
| Stock # |
R8997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
115903669-115923337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115910977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 474
(I474V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029574]
[ENSMUST00000196449]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029574
AA Change: I474V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029574
Gene: ENSMUSG00000027962
AA Change: I474V
| 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 |
probably benign
Transcript: ENSMUST00000196449
|
| SMART Domains |
Protein: ENSMUSP00000142876
Gene: ENSMUSG00000027962
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
32 |
113 |
2.41e-6 |
SMART |
|
Pfam:C2-set
|
133 |
221 |
1.3e-27 |
PFAM |
|
IGc2
|
237 |
298 |
2.09e-15 |
SMART |
|
transmembrane domain
|
322 |
344 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Abhd17a |
T |
C |
10: 80,422,470 (GRCm39) |
T71A |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Adra2a |
T |
C |
19: 54,035,729 (GRCm39) |
S362P |
probably benign |
Het |
| Arid1a |
T |
A |
4: 133,421,343 (GRCm39) |
N436Y |
unknown |
Het |
| Cma2 |
T |
A |
14: 56,210,201 (GRCm39) |
C85S |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,181,023 (GRCm39) |
V724A |
probably damaging |
Het |
| Dennd1a |
C |
T |
2: 37,690,497 (GRCm39) |
G868R |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,617,467 (GRCm39) |
P154S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,528 (GRCm39) |
D171G |
possibly damaging |
Het |
| Dpp4 |
A |
C |
2: 62,164,958 (GRCm39) |
I697S |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,003 (GRCm39) |
D1837E |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,466 (GRCm39) |
S273T |
probably damaging |
Het |
| Fgf5 |
A |
T |
5: 98,423,411 (GRCm39) |
*265C |
probably null |
Het |
| Fscb |
A |
G |
12: 64,520,758 (GRCm39) |
V236A |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,510,747 (GRCm39) |
T614S |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,794,418 (GRCm39) |
D181G |
probably damaging |
Het |
| Inhba |
T |
G |
13: 16,201,107 (GRCm39) |
V223G |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,513,037 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,018,236 (GRCm39) |
W1068L |
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,773,275 (GRCm39) |
L5485P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,518,763 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,959,577 (GRCm39) |
F338L |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,721,918 (GRCm39) |
I164N |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,367,565 (GRCm39) |
C369S |
probably benign |
Het |
| Ninl |
C |
T |
2: 150,801,816 (GRCm39) |
E151K |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,595,982 (GRCm39) |
S494R |
possibly damaging |
Het |
| Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,934,629 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,091,575 (GRCm39) |
S82P |
probably benign |
Het |
| Pcdhgb1 |
C |
A |
18: 37,814,133 (GRCm39) |
P208Q |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,018,517 (GRCm39) |
E988G |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,433,064 (GRCm39) |
M722K |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,545 (GRCm39) |
N129K |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,783,374 (GRCm39) |
L628I |
probably damaging |
Het |
| Sgcz |
G |
T |
8: 39,127,894 (GRCm39) |
D8E |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,790,781 (GRCm39) |
F254L |
|
Het |
| Shf |
A |
G |
2: 122,187,728 (GRCm39) |
L26P |
probably damaging |
Het |
| Slc39a5 |
G |
A |
10: 128,232,348 (GRCm39) |
A484V |
probably damaging |
Het |
| Slco4c1 |
T |
A |
1: 96,795,672 (GRCm39) |
I129F |
probably damaging |
Het |
| Tbck |
A |
T |
3: 132,440,106 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Teddm3 |
A |
T |
16: 20,971,687 (GRCm39) |
V294E |
probably damaging |
Het |
| Tent4b |
T |
A |
8: 88,979,023 (GRCm39) |
V508D |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,667,466 (GRCm39) |
H117L |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,771,596 (GRCm39) |
T184N |
probably benign |
Het |
| Tuba3b |
G |
T |
6: 145,566,954 (GRCm39) |
M398I |
possibly damaging |
Het |
| Wdsub1 |
A |
C |
2: 59,688,977 (GRCm39) |
M415R |
probably damaging |
Het |
| Zfp14 |
A |
T |
7: 29,737,600 (GRCm39) |
F462I |
probably damaging |
Het |
| Zfp846 |
G |
A |
9: 20,505,726 (GRCm39) |
V529I |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,990 (GRCm39) |
T574A |
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 |
|
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 |
|
|
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'- AAATGAGTGGGCCACTTGTGC -3'
Sequencing Primer
(F):5'- CTTCACAGAGGTTTTAATTGGTAACC -3'
(R):5'- CCACTTGTGCATGGGAGAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation