Incidental Mutation 'R1195:Cd28'
ID |
101021 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd28
|
Ensembl Gene |
ENSMUSG00000026012 |
Gene Name |
CD28 antigen |
Synonyms |
|
MMRRC Submission |
039267-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R1195 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
60785547-60812521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60802303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 74
(T74I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027165]
|
AlphaFold |
P31041 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027165
AA Change: T74I
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027165 Gene: ENSMUSG00000026012 AA Change: T74I
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 81.3%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATTTTGGTAAAGCAGTCGCCCC -3'
(R):5'- AGTCTCAGATCACATGCGAGAGCC -3'
Sequencing Primer
(F):5'- CCTGCTTGTGGTAGATAGCAAC -3'
(R):5'- CAACCGTCCTTTAGGTTACAGGAG -3'
|
Posted On |
2014-01-15 |