Incidental Mutation 'R0764:Tnfrsf17'
ID 72573
Institutional Source Beutler Lab
Gene Symbol Tnfrsf17
Ensembl Gene ENSMUSG00000022496
Gene Name tumor necrosis factor receptor superfamily, member 17
Synonyms Tnfrsf13, Tnfrsf13a, BCMA, BCM
MMRRC Submission 038944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0764 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 11131676-11137938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11133063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 47 (T47M)
Ref Sequence ENSEMBL: ENSMUSP00000023140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023140]
AlphaFold O88472
Predicted Effect possibly damaging
Transcript: ENSMUST00000023140
AA Change: T47M

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023140
Gene: ENSMUSG00000022496
AA Change: T47M

DomainStartEndE-ValueType
Pfam:BCMA-Tall_bind 5 40 4.2e-23 PFAM
transmembrane domain 50 72 N/A INTRINSIC
Meta Mutation Damage Score 0.1129 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.1%
Validation Efficiency 98% (48/49)
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 member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations in this gene are viable and fertile with no apparent defects in immune system development or function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,950,772 (GRCm39) Y898N probably damaging Het
Acp4 T C 7: 43,901,738 (GRCm39) probably benign Het
Adipor2 T C 6: 119,334,215 (GRCm39) I332V probably benign Het
Ago3 T A 4: 126,248,885 (GRCm39) K555N possibly damaging Het
Angpt4 A G 2: 151,753,204 (GRCm39) probably benign Het
Ano5 G T 7: 51,187,590 (GRCm39) probably benign Het
Ap3b1 C T 13: 94,616,387 (GRCm39) probably benign Het
Cbl A T 9: 44,075,449 (GRCm39) C399S probably damaging Het
Cdkl2 C A 5: 92,168,136 (GRCm39) V353L probably benign Het
Celsr3 A G 9: 108,705,017 (GRCm39) Y500C probably damaging Het
Cep162 A G 9: 87,083,798 (GRCm39) S1242P probably damaging Het
Crhr1 C T 11: 104,050,152 (GRCm39) R66W probably damaging Het
Ddx49 T C 8: 70,749,907 (GRCm39) E170G probably benign Het
Fam193a T C 5: 34,600,685 (GRCm39) F305L probably damaging Het
Fam76a C T 4: 132,638,010 (GRCm39) G198R probably damaging Het
Gm43302 T A 5: 105,428,355 (GRCm39) I130F probably benign Het
Hectd4 T A 5: 121,424,832 (GRCm39) I745N possibly damaging Het
Ina T A 19: 47,012,087 (GRCm39) *502K probably null Het
Kdm1b A T 13: 47,222,079 (GRCm39) D506V possibly damaging Het
Lrrk2 A G 15: 91,659,249 (GRCm39) probably null Het
Ly6g2 T A 15: 75,092,572 (GRCm39) F97Y probably benign Het
Naip5 A T 13: 100,353,613 (GRCm39) D1215E probably benign Het
Neb A G 2: 52,106,879 (GRCm39) probably benign Het
Nectin2 T A 7: 19,483,096 (GRCm39) probably null Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2aj5 G T 16: 19,425,182 (GRCm39) P79T probably damaging Het
Or4a71 A G 2: 89,358,340 (GRCm39) V138A probably benign Het
Osbp A G 19: 11,961,520 (GRCm39) probably benign Het
Otog A G 7: 45,949,918 (GRCm39) D2460G probably benign Het
Pcgf1 T C 6: 83,056,150 (GRCm39) C2R probably damaging Het
Per2 C T 1: 91,357,142 (GRCm39) V674M probably damaging Het
Pias3 C T 3: 96,608,611 (GRCm39) P218S probably damaging Het
Plod3 C T 5: 137,018,437 (GRCm39) probably benign Het
Purb C T 11: 6,425,661 (GRCm39) V76M probably damaging Het
Ranbp1 C A 16: 18,058,022 (GRCm39) E181* probably null Het
Rit2 T C 18: 31,286,754 (GRCm39) probably benign Het
Rnf103 C A 6: 71,486,566 (GRCm39) T399K probably damaging Het
Slc22a13 T C 9: 119,037,746 (GRCm39) probably null Het
Slc35f4 T A 14: 49,543,796 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tram1 A G 1: 13,649,933 (GRCm39) I97T probably damaging Het
Ttc38 T C 15: 85,730,604 (GRCm39) probably benign Het
Zfp113 T A 5: 138,143,506 (GRCm39) Q248L probably damaging Het
Other mutations in Tnfrsf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02556:Tnfrsf17 APN 16 11,131,811 (GRCm39) utr 5 prime probably benign
IGL02880:Tnfrsf17 APN 16 11,137,622 (GRCm39) missense probably damaging 1.00
R0514:Tnfrsf17 UTSW 16 11,133,191 (GRCm39) missense probably benign
R0659:Tnfrsf17 UTSW 16 11,137,683 (GRCm39) missense probably damaging 1.00
R1463:Tnfrsf17 UTSW 16 11,133,066 (GRCm39) missense possibly damaging 0.93
R1716:Tnfrsf17 UTSW 16 11,137,595 (GRCm39) missense probably benign 0.15
R2436:Tnfrsf17 UTSW 16 11,137,676 (GRCm39) missense probably damaging 1.00
R4658:Tnfrsf17 UTSW 16 11,131,833 (GRCm39) missense probably benign 0.08
R6440:Tnfrsf17 UTSW 16 11,137,754 (GRCm39) missense probably benign 0.00
R8802:Tnfrsf17 UTSW 16 11,137,819 (GRCm39) missense possibly damaging 0.84
R8898:Tnfrsf17 UTSW 16 11,131,910 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACCACATTGTGAACTTCAGGGC -3'
(R):5'- TTCCAAGACTCACCGTCAAGCTG -3'

Sequencing Primer
(F):5'- ggttcggtccccagcag -3'
(R):5'- TCACCGTCAAGCTGACCTG -3'
Posted On 2013-09-30