Incidental Mutation 'IGL02592:Cd53'
ID299765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd53
Ensembl Gene ENSMUSG00000040747
Gene NameCD53 antigen
SynonymsTspan25, Ox-44
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL02592
Quality Score
Status
Chromosome3
Chromosomal Location106759921-106790149 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 106763285 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 144 (C144F)
Ref Sequence ENSEMBL: ENSMUSP00000035781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038845]
Predicted Effect probably damaging
Transcript: ENSMUST00000038845
AA Change: C144F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035781
Gene: ENSMUSG00000040747
AA Change: C144F

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 210 4.6e-54 PFAM
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 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps G A 14: 12,473,465 R899C probably damaging Het
Cass4 T C 2: 172,416,328 L82P probably benign Het
Fancc G A 13: 63,360,197 R175W probably damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gpr149 T C 3: 62,603,810 D256G possibly damaging Het
Kdm5b T A 1: 134,624,853 M1189K probably damaging Het
Lvrn T A 18: 46,850,591 C134S probably damaging Het
Mroh8 A T 2: 157,216,969 Y926N probably damaging Het
Nfxl1 A G 5: 72,514,229 S896P probably benign Het
Orc4 A T 2: 48,933,078 probably null Het
Pcsk6 T A 7: 65,969,028 H447Q probably damaging Het
Rfx6 C A 10: 51,716,023 Q121K probably damaging Het
Rnase6 T C 14: 51,130,525 Y125H probably benign Het
Sbno1 A T 5: 124,400,809 Y494N probably damaging Het
Sppl3 G A 5: 115,095,911 V347M probably damaging Het
Tlr12 G A 4: 128,617,686 T257M probably benign Het
Tmem132e A T 11: 82,434,636 D154V probably damaging Het
Zfp345 A G 2: 150,473,309 Y103H probably benign Het
Zfp947 T A 17: 22,146,252 Q147L possibly damaging Het
Other mutations in Cd53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Cd53 APN 3 106768826 missense probably damaging 1.00
R0090:Cd53 UTSW 3 106767409 missense possibly damaging 0.94
R0392:Cd53 UTSW 3 106763276 missense probably damaging 1.00
R0538:Cd53 UTSW 3 106762128 missense probably benign 0.07
R1452:Cd53 UTSW 3 106768959 missense probably damaging 1.00
R1693:Cd53 UTSW 3 106768889 missense possibly damaging 0.66
R2042:Cd53 UTSW 3 106767424 critical splice acceptor site probably null
R2300:Cd53 UTSW 3 106763256 missense probably benign
R2878:Cd53 UTSW 3 106767416 missense probably benign 0.00
R4081:Cd53 UTSW 3 106762145 missense probably benign
R6180:Cd53 UTSW 3 106767364 missense probably damaging 0.96
R6519:Cd53 UTSW 3 106762145 missense probably benign 0.00
R6694:Cd53 UTSW 3 106767386 missense probably benign 0.03
R7043:Cd53 UTSW 3 106763261 missense probably damaging 1.00
R7417:Cd53 UTSW 3 106768919 missense probably benign 0.17
R7736:Cd53 UTSW 3 106767936 missense probably benign 0.12
R7893:Cd53 UTSW 3 106767386 missense probably benign 0.03
R7976:Cd53 UTSW 3 106767386 missense probably benign 0.03
Posted On2015-04-16