Incidental Mutation 'IGL02344:Ly6g5c'
ID 289218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ly6g5c
Ensembl Gene ENSMUSG00000034482
Gene Name lymphocyte antigen 6 family member G5C
Synonyms NG33, G5c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL02344
Quality Score
Status
Chromosome 17
Chromosomal Location 35327255-35330967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35329723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 68 (T68A)
Ref Sequence ENSEMBL: ENSMUSP00000039151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037849] [ENSMUST00000062657] [ENSMUST00000172854]
AlphaFold Q8K1T5
Predicted Effect possibly damaging
Transcript: ENSMUST00000037849
AA Change: T68A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039151
Gene: ENSMUSG00000034482
AA Change: T68A

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
Blast:LU 59 145 2e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000062657
SMART Domains Protein: ENSMUSP00000052133
Gene: ENSMUSG00000043807

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:CK_II_beta 21 115 1e-40 BLAST
Blast:CK_II_beta 125 170 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172854
SMART Domains Protein: ENSMUSP00000138033
Gene: ENSMUSG00000043807

DomainStartEndE-ValueType
Blast:CK_II_beta 1 60 2e-18 BLAST
Blast:CK_II_beta 70 115 1e-6 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T C 2: 34,979,198 (GRCm39) N167D probably benign Het
AI467606 G T 7: 126,691,691 (GRCm39) A89S probably damaging Het
Atrip T A 9: 108,901,692 (GRCm39) K122* probably null Het
B3glct C T 5: 149,650,313 (GRCm39) R139* probably null Het
Cep135 A G 5: 76,764,668 (GRCm39) T549A probably benign Het
Chd8 T C 14: 52,439,107 (GRCm39) N64S probably damaging Het
Dock2 T C 11: 34,622,337 (GRCm39) I101V probably damaging Het
Ipo5 T C 14: 121,180,191 (GRCm39) probably benign Het
Mthfd1l A G 10: 3,998,272 (GRCm39) probably null Het
Nme8 T A 13: 19,858,574 (GRCm39) E88V possibly damaging Het
Ptpn4 A T 1: 119,700,990 (GRCm39) D86E probably damaging Het
Rnf169 A G 7: 99,575,642 (GRCm39) S318P probably damaging Het
Sidt2 T C 9: 45,856,590 (GRCm39) Y493C probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tet3 A G 6: 83,380,815 (GRCm39) V451A probably benign Het
Tmc3 A T 7: 83,258,302 (GRCm39) I431L probably benign Het
Trp73 C T 4: 154,146,500 (GRCm39) G420S possibly damaging Het
Vmn2r108 T C 17: 20,689,405 (GRCm39) S517G probably damaging Het
Other mutations in Ly6g5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1923:Ly6g5c UTSW 17 35,330,863 (GRCm39) missense possibly damaging 0.92
R7582:Ly6g5c UTSW 17 35,330,783 (GRCm39) missense probably benign 0.27
R8041:Ly6g5c UTSW 17 35,330,808 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16