Incidental Mutation 'IGL02222:Tnfrsf13c'
ID 285182
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 # IGL02222
Quality Score
Status
Chromosome 15
Chromosomal Location 82105944-82108570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82107364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 144 (V144L)
Ref Sequence ENSEMBL: ENSMUSP00000154899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089161] [ENSMUST00000109535] [ENSMUST00000231049]
AlphaFold Q9D8D0
Predicted Effect probably benign
Transcript: ENSMUST00000089161
AA Change: V155L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086564
Gene: ENSMUSG00000068105
AA Change: V155L

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 possibly damaging
Transcript: ENSMUST00000109535
AA Change: V180L

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105161
Gene: ENSMUSG00000068105
AA Change: V180L

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: V144L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,322,045 (GRCm39) R1682W probably benign Het
Angptl6 A T 9: 20,785,203 (GRCm39) M450K probably damaging Het
Armc12 C A 17: 28,757,694 (GRCm39) N275K probably damaging Het
Cd27 T C 6: 125,211,495 (GRCm39) H144R probably damaging Het
Cenpf T C 1: 189,386,641 (GRCm39) K1880E probably benign Het
Dchs1 A T 7: 105,414,094 (GRCm39) I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 (GRCm39) F443C possibly damaging Het
Eif3i C T 4: 129,485,881 (GRCm39) D315N possibly damaging Het
Fam217a A G 13: 35,095,102 (GRCm39) L128P probably damaging Het
Fetub C T 16: 22,751,078 (GRCm39) L62F probably damaging Het
Fmn1 A T 2: 113,423,454 (GRCm39) I1047F probably damaging Het
G2e3 A G 12: 51,410,016 (GRCm39) H267R probably damaging Het
Gigyf2 A G 1: 87,338,585 (GRCm39) probably null Het
Gm10650 T C 3: 127,833,789 (GRCm39) noncoding transcript Het
Grip1 C T 10: 119,835,714 (GRCm39) T470I probably damaging Het
Hmcn1 T G 1: 150,682,152 (GRCm39) D466A probably benign Het
Lrrc63 T C 14: 75,323,580 (GRCm39) Y548C probably damaging Het
Naaa T C 5: 92,407,409 (GRCm39) probably benign Het
Parpbp T A 10: 87,975,947 (GRCm39) E55D possibly damaging Het
Pnpt1 A T 11: 29,109,327 (GRCm39) D691V possibly damaging Het
Pnpt1 G A 11: 29,080,842 (GRCm39) A29T probably benign Het
Pramel11 A G 4: 143,622,416 (GRCm39) M313T possibly damaging Het
Psg25 T C 7: 18,263,652 (GRCm39) N57S probably damaging Het
Selenbp2 T A 3: 94,607,269 (GRCm39) V168E probably damaging Het
Syne2 G A 12: 75,999,617 (GRCm39) E2337K probably damaging Het
Synj2 A G 17: 6,087,755 (GRCm39) T1269A probably benign Het
Tent5b T C 4: 133,213,864 (GRCm39) V245A probably damaging Het
Uspl1 G T 5: 149,130,854 (GRCm39) V132L probably benign Het
Vmn2r58 T A 7: 41,513,449 (GRCm39) Y398F possibly damaging Het
Vps13a T A 19: 16,659,539 (GRCm39) T1663S probably benign Het
Ythdc1 G A 5: 86,975,902 (GRCm39) R503H possibly damaging Het
Other mutations in Tnfrsf13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Tnfrsf13c APN 15 82,107,364 (GRCm39) missense probably damaging 1.00
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