Incidental Mutation 'R2297:Tnfrsf13b'
ID 245208
Institutional Source Beutler Lab
Gene Symbol Tnfrsf13b
Ensembl Gene ENSMUSG00000010142
Gene Name tumor necrosis factor receptor superfamily, member 13b
Synonyms Taci, 1200009E08Rik
MMRRC Submission 040296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R2297 (G1)
Quality Score 185
Status Not validated
Chromosome 11
Chromosomal Location 61017581-61040198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61038271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 185 (T185A)
Ref Sequence ENSEMBL: ENSMUSP00000098662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010286] [ENSMUST00000041683] [ENSMUST00000101103] [ENSMUST00000139422] [ENSMUST00000146033]
AlphaFold Q9ET35
Predicted Effect probably benign
Transcript: ENSMUST00000010286
AA Change: T185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000010286
Gene: ENSMUSG00000010142
AA Change: T185A

DomainStartEndE-ValueType
internal_repeat_1 6 39 6.78e-5 PROSPERO
Pfam:TACI-CRD2 41 79 1.7e-24 PFAM
transmembrane domain 126 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041683
SMART Domains Protein: ENSMUSP00000041263
Gene: ENSMUSG00000042506

DomainStartEndE-ValueType
Pfam:zf-UBP 63 124 5.5e-16 PFAM
Pfam:UCH 175 517 5.5e-60 PFAM
Pfam:UCH_1 176 501 2.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101103
AA Change: T185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098662
Gene: ENSMUSG00000010142
AA Change: T185A

DomainStartEndE-ValueType
internal_repeat_1 6 39 6.78e-5 PROSPERO
Pfam:TACI-CRD2 41 81 2.6e-33 PFAM
transmembrane domain 126 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137832
Predicted Effect probably benign
Transcript: ENSMUST00000139422
SMART Domains Protein: ENSMUSP00000116175
Gene: ENSMUSG00000010142

DomainStartEndE-ValueType
internal_repeat_1 6 39 1.03e-5 PROSPERO
Pfam:TACI-CRD2 41 81 9.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146033
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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 lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show increased B cell numbers and splenomegaly. Homozygotes for a null allele show impaired T cell-independent immune responses and isotype switching. Homozygotes for another null allele develop lymphoproliferation and fatal autoimmune nephritis with high titers of autoantibodies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik G A 11: 3,840,127 (GRCm39) A90V probably damaging Het
Aco2 A T 15: 81,788,109 (GRCm39) D114V probably damaging Het
Cop1 C T 1: 159,080,124 (GRCm39) H185Y possibly damaging Het
Cyp2a12 A G 7: 26,734,057 (GRCm39) D330G possibly damaging Het
Dcaf6 T C 1: 165,227,431 (GRCm39) Y232C probably damaging Het
Ddx42 T G 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dtl A G 1: 191,273,207 (GRCm39) V567A probably benign Het
Fem1c T C 18: 46,639,228 (GRCm39) K258R possibly damaging Het
Galnt12 T A 4: 47,113,834 (GRCm39) V84D probably damaging Het
Grm1 T G 10: 10,956,158 (GRCm39) D42A probably benign Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Ncapd3 C T 9: 26,952,797 (GRCm39) R109* probably null Het
Or5c1 A G 2: 37,222,155 (GRCm39) N132S probably benign Het
Pimreg T C 11: 71,933,906 (GRCm39) S11P probably damaging Het
Ppp1r16b G A 2: 158,603,286 (GRCm39) E404K possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc6a11 A G 6: 114,108,386 (GRCm39) N50S probably benign Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Tmem132d T C 5: 128,345,608 (GRCm39) T305A possibly damaging Het
Trdn C A 10: 33,211,008 (GRCm39) P400Q probably damaging Het
Zfp119b T A 17: 56,246,355 (GRCm39) Y277F possibly damaging Het
Other mutations in Tnfrsf13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:Tnfrsf13b APN 11 61,032,146 (GRCm39) missense possibly damaging 0.51
R0523:Tnfrsf13b UTSW 11 61,038,413 (GRCm39) missense probably benign 0.33
R2517:Tnfrsf13b UTSW 11 61,032,302 (GRCm39) missense probably benign 0.27
R4298:Tnfrsf13b UTSW 11 61,031,643 (GRCm39) splice site probably null
R4299:Tnfrsf13b UTSW 11 61,031,643 (GRCm39) splice site probably null
R4454:Tnfrsf13b UTSW 11 61,032,264 (GRCm39) missense probably benign 0.33
R4931:Tnfrsf13b UTSW 11 61,031,763 (GRCm39) missense possibly damaging 0.66
R5416:Tnfrsf13b UTSW 11 61,037,849 (GRCm39) splice site probably null
R7995:Tnfrsf13b UTSW 11 61,031,742 (GRCm39) nonsense probably null
R8531:Tnfrsf13b UTSW 11 61,031,777 (GRCm39) critical splice donor site probably null
R8790:Tnfrsf13b UTSW 11 61,038,350 (GRCm39) missense possibly damaging 0.53
R8858:Tnfrsf13b UTSW 11 61,038,363 (GRCm39) missense possibly damaging 0.73
RF013:Tnfrsf13b UTSW 11 61,032,270 (GRCm39) missense probably benign
Z1176:Tnfrsf13b UTSW 11 61,037,836 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TCAGCTTTGAGAGGAGATCGG -3'
(R):5'- TTTCGGGCTGTCAAGTTGCC -3'

Sequencing Primer
(F):5'- ATCGGGAAGCGGGTTACC -3'
(R):5'- TGTCAAGTTGCCGGACGAG -3'
Posted On 2014-10-30