Incidental Mutation 'IGL01685:Cd28'
| ID |
103919 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd28
|
| Ensembl Gene |
ENSMUSG00000026012 |
| Gene Name |
CD28 antigen |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
IGL01685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
60785547-60812521 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 60802307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 75
(Y75*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027165]
|
| AlphaFold |
P31041 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027165
AA Change: Y75*
|
| SMART Domains |
Protein: ENSMUSP00000027165
Gene: ENSMUSG00000026012
AA Change: Y75*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
26 |
137 |
2.57e0 |
SMART |
|
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153207
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous mutation of this gene results in impairment of some T cell responses and decreased basal immunoglobulin levels. Mutant animals have reduced T helper cell activity and impaired T cell response to lectins, but cytotoxic T cells can still be induced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,301,327 (GRCm39) |
R66S |
possibly damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,591,905 (GRCm39) |
V61A |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,381,992 (GRCm39) |
Y195C |
probably damaging |
Het |
| Brd3 |
A |
G |
2: 27,349,500 (GRCm39) |
I351T |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,098,315 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
G |
10: 76,163,583 (GRCm39) |
E39A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,209,533 (GRCm39) |
V1200A |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,297 (GRCm39) |
L1216P |
probably damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,374 (GRCm39) |
I468F |
probably damaging |
Het |
| Gucy1b1 |
C |
A |
3: 81,942,592 (GRCm39) |
V517F |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,343,536 (GRCm39) |
Q9R |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,681,666 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,081,665 (GRCm39) |
K354* |
probably null |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,121 (GRCm39) |
S107T |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,604,294 (GRCm39) |
K254T |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,586,937 (GRCm39) |
|
probably benign |
Het |
| Macroh2a2 |
C |
T |
10: 61,593,550 (GRCm39) |
S42N |
probably damaging |
Het |
| Mbd6 |
G |
T |
10: 127,120,601 (GRCm39) |
|
probably benign |
Het |
| Mob1a |
A |
T |
6: 83,309,485 (GRCm39) |
E32D |
probably benign |
Het |
| Mrps27 |
A |
T |
13: 99,551,428 (GRCm39) |
Q397L |
possibly damaging |
Het |
| Or8b3 |
T |
C |
9: 38,314,317 (GRCm39) |
I46T |
possibly damaging |
Het |
| Pcdhb18 |
A |
C |
18: 37,624,984 (GRCm39) |
K771N |
probably benign |
Het |
| Pcdhgc5 |
T |
G |
18: 37,954,808 (GRCm39) |
L694R |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,143,066 (GRCm39) |
D815E |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,414,362 (GRCm39) |
K88E |
probably damaging |
Het |
| Rint1 |
A |
T |
5: 23,992,832 (GRCm39) |
|
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,699 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,091 (GRCm39) |
S558T |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,842,705 (GRCm39) |
S775P |
probably benign |
Het |
| Zic3 |
T |
C |
X: 57,077,088 (GRCm39) |
V183A |
probably benign |
Het |
|
| Other mutations in Cd28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Cd28
|
APN |
1 |
60,802,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Cd28
|
APN |
1 |
60,802,498 (GRCm39) |
splice site |
probably benign |
|
|
Iago
|
UTSW |
1 |
60,802,332 (GRCm39) |
nonsense |
probably null |
|
|
Othello
|
UTSW |
1 |
60,802,487 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1195:Cd28
|
UTSW |
1 |
60,802,303 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1195:Cd28
|
UTSW |
1 |
60,802,303 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1195:Cd28
|
UTSW |
1 |
60,802,303 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4472:Cd28
|
UTSW |
1 |
60,802,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Cd28
|
UTSW |
1 |
60,808,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6410:Cd28
|
UTSW |
1 |
60,804,442 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7201:Cd28
|
UTSW |
1 |
60,802,332 (GRCm39) |
nonsense |
probably null |
|
|
R7421:Cd28
|
UTSW |
1 |
60,802,459 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7544:Cd28
|
UTSW |
1 |
60,808,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Cd28
|
UTSW |
1 |
60,802,487 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8547:Cd28
|
UTSW |
1 |
60,785,681 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8822:Cd28
|
UTSW |
1 |
60,808,820 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9682:Cd28
|
UTSW |
1 |
60,804,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation