Incidental Mutation 'R0392:Cd53'
| ID |
31752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd53
|
| Ensembl Gene |
ENSMUSG00000040747 |
| Gene Name |
CD53 antigen |
| Synonyms |
Tspan25, Ox-44 |
| MMRRC Submission |
038598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R0392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106667237-106697465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106670592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 147
(V147E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038845]
|
| AlphaFold |
Q61451 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038845
AA Change: V147E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: V147E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
8 |
210 |
4.6e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| Validation Efficiency |
100% (31/31) |
| 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 a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: B cells lacking this gene exhibit impaired PKC recruitment to the plasma membrane and phosphorylation of PKC substrates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bcan |
T |
A |
3: 87,900,869 (GRCm39) |
K455* |
probably null |
Het |
| Casp12 |
T |
A |
9: 5,348,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc61 |
T |
C |
7: 18,625,027 (GRCm39) |
M504V |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,308 (GRCm39) |
Y226H |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,671 (GRCm39) |
D413G |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,193,230 (GRCm39) |
I254T |
possibly damaging |
Het |
| Ddx39a |
T |
G |
8: 84,448,366 (GRCm39) |
M206R |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,977,113 (GRCm39) |
T666S |
probably damaging |
Het |
| Dnaaf8 |
T |
C |
16: 4,795,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7a |
C |
A |
1: 53,543,357 (GRCm39) |
C2271F |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,610 (GRCm39) |
K133R |
probably benign |
Het |
| Gm11146 |
T |
A |
16: 77,394,054 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
T |
14: 57,733,617 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
A |
G |
12: 114,487,460 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,902,817 (GRCm39) |
S179P |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,907,113 (GRCm39) |
S788P |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,106 (GRCm39) |
I279N |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,899,499 (GRCm39) |
W267R |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,151 (GRCm39) |
I175M |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,011 (GRCm39) |
K386E |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,220,660 (GRCm39) |
N2056S |
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,826,776 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,328,212 (GRCm39) |
D1071E |
probably benign |
Het |
| Rtp3 |
A |
T |
9: 110,818,621 (GRCm39) |
M20K |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,277 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,262,608 (GRCm39) |
S94P |
probably damaging |
Het |
| Slitrk5 |
G |
A |
14: 111,916,465 (GRCm39) |
V30I |
probably benign |
Het |
| St8sia5 |
G |
A |
18: 77,342,102 (GRCm39) |
V271M |
probably damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,383,062 (GRCm39) |
T240N |
probably damaging |
Het |
|
| Other mutations in Cd53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02500:Cd53
|
APN |
3 |
106,676,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02592:Cd53
|
APN |
3 |
106,670,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Cd53
|
UTSW |
3 |
106,674,725 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0538:Cd53
|
UTSW |
3 |
106,669,444 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1452:Cd53
|
UTSW |
3 |
106,676,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Cd53
|
UTSW |
3 |
106,676,205 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2042:Cd53
|
UTSW |
3 |
106,674,740 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2300:Cd53
|
UTSW |
3 |
106,670,572 (GRCm39) |
missense |
probably benign |
|
|
R2878:Cd53
|
UTSW |
3 |
106,674,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4081:Cd53
|
UTSW |
3 |
106,669,461 (GRCm39) |
missense |
probably benign |
|
|
R6180:Cd53
|
UTSW |
3 |
106,674,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6519:Cd53
|
UTSW |
3 |
106,669,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6694:Cd53
|
UTSW |
3 |
106,674,702 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7043:Cd53
|
UTSW |
3 |
106,670,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Cd53
|
UTSW |
3 |
106,676,235 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7736:Cd53
|
UTSW |
3 |
106,675,252 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7893:Cd53
|
UTSW |
3 |
106,674,702 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9493:Cd53
|
UTSW |
3 |
106,674,683 (GRCm39) |
missense |
probably null |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAATGGATCTGCCTTCTCCAAAAG -3'
(R):5'- TGCATAAGCGGAGCATGTCATTTAAAC -3'
Sequencing Primer
(F):5'- GCTCCTAGATTTTGGAAGCATC -3'
(R):5'- ATGAACATTTAGTTCCAAAGAGTCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation