Incidental Mutation 'R6092:Tnfrsf13c'
ID 486012
Institutional Source Beutler Lab
Gene Symbol Tnfrsf13c
Ensembl Gene ENSMUSG00000068105
Gene Name tumor necrosis factor receptor superfamily, member 13c
Synonyms BAFF-R, 2010006P15Rik, Bcmd-1, Baffr, Lvis22, Bcmd1
MMRRC Submission 044249-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R6092 (G1)
Quality Score 147.008
Status Validated
Chromosome 15
Chromosomal Location 82105944-82108570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82107355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 147 (T147A)
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: T158A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086564
Gene: ENSMUSG00000068105
AA Change: T158A

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: T183A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105161
Gene: ENSMUSG00000068105
AA Change: T183A

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: T147A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.0942 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,701 (GRCm39) P1297S probably benign Het
4930486L24Rik C T 13: 61,001,461 (GRCm39) V89M probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
Baz1a C T 12: 54,955,868 (GRCm39) V1074M possibly damaging Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Ggt7 A G 2: 155,359,959 (GRCm39) probably null Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mfsd8 A G 3: 40,774,031 (GRCm39) V493A possibly damaging Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Serpinb3d T C 1: 107,006,989 (GRCm39) M240V probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q probably damaging Het
Other mutations in Tnfrsf13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Tnfrsf13c APN 15 82,107,364 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- CTCATGTGGCCTGTAGTGTC -3'
(R):5'- CAGAGGAGGCTTCTAGAACG -3'

Sequencing Primer
(F):5'- CCTGTAGTGTCTGGTTCTGCC -3'
(R):5'- CTCCGCTCAAAGAAGATG -3'
Posted On 2017-08-16