Incidental Mutation 'R8858:Tnfrsf13b'
ID 675477
Institutional Source Beutler Lab
Gene Symbol Tnfrsf13b
Ensembl Gene ENSMUSG00000010142
Gene Name tumor necrosis factor receptor superfamily, member 13b
Synonyms Taci, 1200009E08Rik
MMRRC Submission 068738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R8858 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61017581-61040198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61038363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 215 (I215M)
Ref Sequence ENSEMBL: ENSMUSP00000010286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010286] [ENSMUST00000041683] [ENSMUST00000101103] [ENSMUST00000139422] [ENSMUST00000146033]
AlphaFold Q9ET35
Predicted Effect possibly damaging
Transcript: ENSMUST00000010286
AA Change: I215M

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000010286
Gene: ENSMUSG00000010142
AA Change: I215M

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 possibly damaging
Transcript: ENSMUST00000101103
AA Change: I215M

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098662
Gene: ENSMUSG00000010142
AA Change: I215M

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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,638,338 (GRCm39) Q91R probably benign Het
Abca16 G T 7: 120,052,327 (GRCm39) C465F probably benign Het
Amfr A G 8: 94,714,070 (GRCm39) Y254H probably damaging Het
Arl6ip6 A G 2: 53,093,018 (GRCm39) E181G probably damaging Het
Atp10a A G 7: 58,465,971 (GRCm39) E1066G probably damaging Het
BC034090 A G 1: 155,101,964 (GRCm39) V100A probably benign Het
Cep126 T C 9: 8,130,270 (GRCm39) M54V probably benign Het
Ciao2a T C 9: 66,039,824 (GRCm39) I47T probably damaging Het
Csmd1 A G 8: 16,120,318 (GRCm39) V1829A probably benign Het
Cyp2c54 G A 19: 40,062,227 (GRCm39) T10I probably benign Het
Dennd11 T C 6: 40,399,669 (GRCm39) N173S probably benign Het
Disc1 A G 8: 125,977,781 (GRCm39) Y799C probably damaging Het
Dnajc17 T C 2: 119,011,445 (GRCm39) T162A probably benign Het
Fhad1 T C 4: 141,666,339 (GRCm39) E695G possibly damaging Het
Gadl1 A T 9: 115,835,669 (GRCm39) S366C probably damaging Het
Gbp11 C A 5: 105,473,392 (GRCm39) E454* probably null Het
Gm32742 T A 9: 51,062,256 (GRCm39) T691S probably benign Het
Gsdma3 C A 11: 98,520,695 (GRCm39) Q109K probably benign Het
Hsph1 A T 5: 149,548,576 (GRCm39) V482E probably damaging Het
Ighv1-23 T A 12: 114,728,083 (GRCm39) Y113F probably benign Het
Lactb G T 9: 66,863,182 (GRCm39) Y477* probably null Het
Lgr6 T C 1: 134,923,849 (GRCm39) probably null Het
Lrp1b T C 2: 41,560,827 (GRCm39) probably benign Het
Map3k4 A C 17: 12,490,759 (GRCm39) L224R probably damaging Het
Mex3d A T 10: 80,217,217 (GRCm39) C667S unknown Het
Myh8 A G 11: 67,192,820 (GRCm39) E1537G possibly damaging Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nfic A T 10: 81,262,965 (GRCm39) probably benign Het
Nrcam T A 12: 44,644,554 (GRCm39) probably benign Het
Or2aj6 A G 16: 19,443,109 (GRCm39) V247A probably damaging Het
Or4f54 G A 2: 111,123,503 (GRCm39) V297M probably benign Het
Orc2 A T 1: 58,532,857 (GRCm39) D127E probably benign Het
Ppp2r5c T A 12: 110,519,329 (GRCm39) probably null Het
Ptpn18 A G 1: 34,502,196 (GRCm39) T71A possibly damaging Het
Ptpru T C 4: 131,526,825 (GRCm39) probably benign Het
Ralgapa2 C A 2: 146,102,285 (GRCm39) probably null Het
Rnase9 G A 14: 51,276,766 (GRCm39) P71S Het
Ryr1 A G 7: 28,808,638 (GRCm39) L485P probably benign Het
Sardh T C 2: 27,118,302 (GRCm39) D476G probably null Het
Sorbs3 T C 14: 70,438,850 (GRCm39) Y170C probably damaging Het
Spata31e4 T C 13: 50,855,423 (GRCm39) S354P probably benign Het
St8sia5 C T 18: 77,320,511 (GRCm39) P88S probably benign Het
Tmprss15 A G 16: 78,854,497 (GRCm39) probably null Het
Unc13d G T 11: 115,953,618 (GRCm39) L1052M probably damaging Het
Vasn A G 16: 4,466,833 (GRCm39) D260G probably benign Het
Wdr77 T C 3: 105,868,978 (GRCm39) V116A probably damaging Het
Zfp560 A G 9: 20,260,403 (GRCm39) I153T probably benign Het
Zfp672 G A 11: 58,208,145 (GRCm39) R59C 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
R2297:Tnfrsf13b UTSW 11 61,038,271 (GRCm39) missense probably benign
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
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'- TGAAAACCTGTTCAGGGGCG -3'
(R):5'- AAAAGGCACAGGTTGACTGC -3'

Sequencing Primer
(F):5'- CTCAGAAGGGCAAGTCCTG -3'
(R):5'- TTGACTGCTCTGGAAAGTATAGGAC -3'
Posted On 2021-07-15