Incidental Mutation 'IGL01665:Cd83'
ID 103278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd83
Ensembl Gene ENSMUSG00000015396
Gene Name CD83 antigen
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01665
Quality Score
Status
Chromosome 13
Chromosomal Location 43938588-43956609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43955153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 195 (T195S)
Ref Sequence ENSEMBL: ENSMUSP00000015540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015540]
AlphaFold O88324
Predicted Effect probably benign
Transcript: ENSMUST00000015540
AA Change: T195S

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015540
Gene: ENSMUSG00000015396
AA Change: T195S

DomainStartEndE-ValueType
IG 22 118 5.37e-4 SMART
transmembrane domain 137 159 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221359
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 single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice lacking this gene develop, thrive, and reproduce normally, but exhibit defects in T cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T A 9: 54,530,004 (GRCm39) I231L probably benign Het
Adcyap1 T A 17: 93,507,506 (GRCm39) V22D probably damaging Het
Adgra3 T C 5: 50,164,272 (GRCm39) T236A possibly damaging Het
Adipor2 A T 6: 119,338,887 (GRCm39) L122H probably benign Het
Atp1a4 T C 1: 172,074,291 (GRCm39) I321V probably benign Het
Bhmt2 A T 13: 93,799,661 (GRCm39) Y258* probably null Het
C230029F24Rik T A 1: 49,377,253 (GRCm39) noncoding transcript Het
Ccpg1 T A 9: 72,913,159 (GRCm39) F232I probably damaging Het
Cdcp3 G T 7: 130,848,386 (GRCm39) G847* probably null Het
Cfap70 G A 14: 20,453,186 (GRCm39) T897M probably damaging Het
Cyp3a11 T A 5: 145,805,475 (GRCm39) M181L probably benign Het
Frem2 C T 3: 53,457,083 (GRCm39) V2090I probably benign Het
Gm45234 A G 6: 124,723,571 (GRCm39) probably benign Het
Gm7964 T A 7: 83,406,341 (GRCm39) noncoding transcript Het
Igsf9 T A 1: 172,319,738 (GRCm39) C39* probably null Het
Il1rap A T 16: 26,541,463 (GRCm39) D568V probably damaging Het
Ints7 C T 1: 191,345,331 (GRCm39) probably benign Het
Lsamp C T 16: 41,964,375 (GRCm39) R250* probably null Het
Oit3 T A 10: 59,274,731 (GRCm39) D23V probably damaging Het
Pcdh17 T A 14: 84,684,442 (GRCm39) L303Q probably damaging Het
Pcdhb1 T A 18: 37,400,450 (GRCm39) N800K probably benign Het
Plce1 A G 19: 38,513,331 (GRCm39) D210G probably benign Het
Plekhb2 T A 1: 34,908,411 (GRCm39) Y152N probably damaging Het
Rbp3 T C 14: 33,678,088 (GRCm39) S679P probably benign Het
Rps6kc1 T C 1: 190,643,854 (GRCm39) T2A possibly damaging Het
Tmem167 T A 13: 90,246,504 (GRCm39) S9R probably damaging Het
Xpnpep1 A T 19: 52,985,463 (GRCm39) S522T probably benign Het
Other mutations in Cd83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02802:Cd83 UTSW 13 43,953,147 (GRCm39) missense probably null 1.00
R0646:Cd83 UTSW 13 43,951,009 (GRCm39) missense probably benign 0.03
R2449:Cd83 UTSW 13 43,951,132 (GRCm39) missense probably damaging 0.97
R7686:Cd83 UTSW 13 43,938,848 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21