Incidental Mutation 'IGL02608:Tnfrsf13c'
ID 300361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf13c
Ensembl Gene ENSMUSG00000068105
Gene Name tumor necrosis factor receptor superfamily, member 13c
Synonyms BAFF-R, 2010006P15Rik, Bcmd-1, Baffr, Lvis22, Bcmd1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02608
Quality Score
Status
Chromosome 15
Chromosomal Location 82105944-82108570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82107364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 144 (V144M)
Ref Sequence ENSEMBL: ENSMUSP00000154899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089161] [ENSMUST00000109535] [ENSMUST00000231049]
AlphaFold Q9D8D0
Predicted Effect possibly damaging
Transcript: ENSMUST00000089161
AA Change: V155M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086564
Gene: ENSMUSG00000068105
AA Change: V155M

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:BaffR-Tall_bind 19 49 2.4e-25 PFAM
transmembrane domain 73 95 N/A INTRINSIC
PDB:2GKW|B 152 175 1e-7 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000109535
AA Change: V180M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105161
Gene: ENSMUSG00000068105
AA Change: V180M

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:BaffR-Tall_bind 19 49 5.4e-26 PFAM
transmembrane domain 109 131 N/A INTRINSIC
PDB:2GKW|B 177 200 2e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000229984
Predicted Effect probably damaging
Transcript: ENSMUST00000231049
AA Change: V144M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in defective splenic B-cell maturation, reduced marginal zone B-cell numbers, and impaired T-cell-dependent antibody formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Tnfrsf13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Tnfrsf13c APN 15 82,107,364 (GRCm39) missense probably damaging 0.98
IGL03378:Tnfrsf13c APN 15 82,108,513 (GRCm39) start codon destroyed probably benign 0.14
Tannin UTSW 15 82,108,408 (GRCm39) missense probably damaging 1.00
Teton_range UTSW 15 82,107,355 (GRCm39) missense probably damaging 0.98
R5058:Tnfrsf13c UTSW 15 82,108,408 (GRCm39) missense probably damaging 1.00
R6092:Tnfrsf13c UTSW 15 82,107,355 (GRCm39) missense probably damaging 0.98
R6296:Tnfrsf13c UTSW 15 82,108,103 (GRCm39) missense probably damaging 0.98
R7649:Tnfrsf13c UTSW 15 82,108,341 (GRCm39) missense possibly damaging 0.85
R9316:Tnfrsf13c UTSW 15 82,108,021 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16