Incidental Mutation 'R6410:Cd28'
| ID |
514564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd28
|
| Ensembl Gene |
ENSMUSG00000026012 |
| Gene Name |
CD28 antigen |
| Synonyms |
|
| MMRRC Submission |
044383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60785547-60812521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60804442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 140
(H140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027165]
|
| AlphaFold |
P31041 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027165
AA Change: H140L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027165
Gene: ENSMUSG00000026012
AA Change: H140L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
C |
T |
4: 132,790,210 (GRCm39) |
R484W |
probably damaging |
Het |
| Arhgap24 |
T |
A |
5: 103,040,017 (GRCm39) |
I411N |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,403,826 (GRCm39) |
S304G |
probably benign |
Het |
| Atg9b |
T |
A |
5: 24,591,108 (GRCm39) |
N774I |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,117 (GRCm39) |
C624Y |
probably damaging |
Het |
| Camsap2 |
C |
A |
1: 136,273,182 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,564,798 (GRCm39) |
S248P |
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,536,803 (GRCm39) |
T133I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 103,998,548 (GRCm39) |
|
probably null |
Het |
| Defb47 |
T |
C |
14: 63,238,442 (GRCm39) |
V56A |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,734,831 (GRCm39) |
E132G |
probably damaging |
Het |
| H2-M2 |
A |
G |
17: 37,794,104 (GRCm39) |
V40A |
probably damaging |
Het |
| H2-Q7 |
T |
C |
17: 35,659,152 (GRCm39) |
L201P |
probably benign |
Het |
| Klra9 |
T |
G |
6: 130,155,957 (GRCm39) |
D266A |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,565,860 (GRCm39) |
N492S |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,317,215 (GRCm39) |
E341G |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,079,074 (GRCm39) |
V947G |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,764,484 (GRCm39) |
|
probably null |
Het |
| Or7e177 |
T |
A |
9: 20,211,748 (GRCm39) |
I84N |
probably damaging |
Het |
| Pm20d1 |
G |
A |
1: 131,726,334 (GRCm39) |
G57D |
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,004,880 (GRCm39) |
I157T |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sv2b |
A |
T |
7: 74,789,857 (GRCm39) |
I392N |
probably benign |
Het |
| Wfdc8 |
T |
A |
2: 164,439,663 (GRCm39) |
I240F |
probably benign |
Het |
|
| Other mutations in Cd28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01685:Cd28
|
APN |
1 |
60,802,307 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACAAAGTATGATCAGTGGTGG -3'
(R):5'- TGGACAGACTGAAAAGCGTC -3'
Sequencing Primer
(F):5'- TGGGGTTGAGTAAGTCCCAAAG -3'
(R):5'- CAGACTGAAAAGCGTCATTTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation