Incidental Mutation 'IGL01464:Cd86'
| ID |
88062 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd86
|
| Ensembl Gene |
ENSMUSG00000022901 |
| Gene Name |
CD86 antigen |
| Synonyms |
MB7-2, Ly-58, Cd28l2, Ly58, B70, B7.2, B7-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL01464
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36424231-36486443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36441315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 51
(S51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089620]
[ENSMUST00000135280]
|
| AlphaFold |
P42082 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089620
AA Change: S51G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087047
Gene: ENSMUSG00000022901
AA Change: S51G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IGv
|
35 |
112 |
1.76e-8 |
SMART |
|
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
|
transmembrane domain
|
246 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135280
|
| SMART Domains |
Protein: ENSMUSP00000117756
Gene: ENSMUSG00000022901
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
40 |
117 |
1.76e-8 |
SMART |
|
| 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 encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]
PHENOTYPE: Homozygous null mice on an NOD background display a phenotype similar to human Guillain-Barre Syndrome, exhibiting severe peripheral nervous system inflammation, sciatic nerve demyelination, elevated auto-antibodies to myelin protein zero, hindlimb paralysis, and weak forelimb grip. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
| Calb1 |
T |
A |
4: 15,881,485 (GRCm39) |
|
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,399 (GRCm39) |
S102P |
possibly damaging |
Het |
| Ctsll3 |
C |
T |
13: 60,948,134 (GRCm39) |
G181D |
probably damaging |
Het |
| Elmod2 |
G |
A |
8: 84,043,421 (GRCm39) |
|
probably benign |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
| Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
| Rhbdf2 |
C |
T |
11: 116,491,734 (GRCm39) |
G574S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
Het |
|
| Other mutations in Cd86 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01723:Cd86
|
APN |
16 |
36,427,486 (GRCm39) |
missense |
probably benign |
|
|
IGL01834:Cd86
|
APN |
16 |
36,427,481 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02554:Cd86
|
APN |
16 |
36,438,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02714:Cd86
|
APN |
16 |
36,441,290 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0032:Cd86
|
UTSW |
16 |
36,441,235 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0032:Cd86
|
UTSW |
16 |
36,441,235 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0315:Cd86
|
UTSW |
16 |
36,441,306 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0494:Cd86
|
UTSW |
16 |
36,438,999 (GRCm39) |
splice site |
probably benign |
|
|
R1345:Cd86
|
UTSW |
16 |
36,438,686 (GRCm39) |
splice site |
probably null |
|
|
R1459:Cd86
|
UTSW |
16 |
36,449,350 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1616:Cd86
|
UTSW |
16 |
36,449,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4436:Cd86
|
UTSW |
16 |
36,441,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4593:Cd86
|
UTSW |
16 |
36,426,918 (GRCm39) |
makesense |
probably null |
|
|
R4612:Cd86
|
UTSW |
16 |
36,435,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6058:Cd86
|
UTSW |
16 |
36,449,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7140:Cd86
|
UTSW |
16 |
36,441,263 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7174:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7176:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7177:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7181:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7183:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7232:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7255:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7256:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R7267:Cd86
|
UTSW |
16 |
36,426,917 (GRCm39) |
frame shift |
probably null |
|
|
R8826:Cd86
|
UTSW |
16 |
36,435,650 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9595:Cd86
|
UTSW |
16 |
36,441,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation