Incidental Mutation 'R6440:Tnfrsf17'
ID 518994
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 044578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6440 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 11131676-11137938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11137754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 164 (G164S)
Ref Sequence ENSEMBL: ENSMUSP00000023140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023140] [ENSMUST00000115814] [ENSMUST00000180792]
AlphaFold O88472
Predicted Effect probably benign
Transcript: ENSMUST00000023140
AA Change: G164S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023140
Gene: ENSMUSG00000022496
AA Change: G164S

DomainStartEndE-ValueType
Pfam:BCMA-Tall_bind 5 40 4.2e-23 PFAM
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115814
SMART Domains Protein: ENSMUSP00000111481
Gene: ENSMUSG00000071669

DomainStartEndE-ValueType
low complexity region 64 74 N/A INTRINSIC
RUN 115 178 7.89e-26 SMART
internal_repeat_1 192 211 2.98e-5 PROSPERO
internal_repeat_1 203 222 2.98e-5 PROSPERO
low complexity region 252 262 N/A INTRINSIC
low complexity region 270 275 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180792
SMART Domains Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669

DomainStartEndE-ValueType
low complexity region 64 74 N/A INTRINSIC
RUN 115 178 7.89e-26 SMART
internal_repeat_1 192 211 2.63e-5 PROSPERO
internal_repeat_1 203 222 2.63e-5 PROSPERO
low complexity region 252 262 N/A INTRINSIC
low complexity region 270 275 N/A INTRINSIC
low complexity region 314 323 N/A INTRINSIC
low complexity region 445 462 N/A INTRINSIC
coiled coil region 467 548 N/A INTRINSIC
PX 661 764 3.13e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.7%
Validation Efficiency 100% (40/40)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,101,744 (GRCm39) probably null Het
Adgrl3 C T 5: 81,942,341 (GRCm39) Q684* probably null Het
Ahi1 T A 10: 20,835,981 (GRCm39) probably benign Het
Aox1 A G 1: 58,133,631 (GRCm39) T1070A probably damaging Het
B3gnt9 C T 8: 105,980,531 (GRCm39) probably null Het
C3ar1 G T 6: 122,827,467 (GRCm39) A250E probably damaging Het
Caprin2 A G 6: 148,771,143 (GRCm39) F284L probably damaging Het
Cdc25a T C 9: 109,710,566 (GRCm39) I90T probably benign Het
Cdh9 A T 15: 16,823,509 (GRCm39) T164S probably benign Het
Ces2a C T 8: 105,467,954 (GRCm39) A528V probably benign Het
Cyp2c70 T C 19: 40,145,250 (GRCm39) N402S possibly damaging Het
F3 A G 3: 121,518,686 (GRCm39) E50G probably damaging Het
Fli1 A T 9: 32,335,197 (GRCm39) S412T probably benign Het
Flt1 T A 5: 147,501,115 (GRCm39) D1306V possibly damaging Het
Ggt7 T C 2: 155,340,731 (GRCm39) D424G probably damaging Het
Grm7 A T 6: 111,230,981 (GRCm39) N468I probably damaging Het
Htr5a T A 5: 28,055,870 (GRCm39) V287E probably damaging Het
Map3k21 T C 8: 126,637,876 (GRCm39) V154A probably damaging Het
Muc16 A G 9: 18,552,655 (GRCm39) V4546A probably benign Het
Ncbp1 A G 4: 46,147,516 (GRCm39) Y121C probably damaging Het
Nckap1l C A 15: 103,379,659 (GRCm39) Y315* probably null Het
Ntpcr T A 8: 126,471,981 (GRCm39) S64T probably damaging Het
Or1e1c A T 11: 73,266,173 (GRCm39) E202D probably benign Het
Or6c215 A G 10: 129,637,837 (GRCm39) S186P probably damaging Het
Or7e175 T C 9: 20,048,490 (GRCm39) F26S probably damaging Het
Pate9 T A 9: 36,453,168 (GRCm39) M1L probably benign Het
Pde4dip A G 3: 97,674,902 (GRCm39) C5R probably damaging Het
Pgap2 T A 7: 101,886,594 (GRCm39) probably null Het
Pik3r6 T C 11: 68,424,522 (GRCm39) W376R probably benign Het
Plekha2 T C 8: 25,578,413 (GRCm39) Y29C probably damaging Het
Pms1 T C 1: 53,234,180 (GRCm39) K779E probably damaging Het
Prss16 A G 13: 22,187,330 (GRCm39) V98A probably damaging Het
Robo2 C T 16: 73,713,010 (GRCm39) D1287N probably benign Het
Sgsm1 A G 5: 113,426,997 (GRCm39) probably null Het
Slc40a1 A T 1: 45,964,422 (GRCm39) M1K probably null Het
Smo A G 6: 29,756,813 (GRCm39) H437R possibly damaging Het
Sult3a1 T C 10: 33,746,198 (GRCm39) Y173H possibly damaging Het
Svep1 T A 4: 58,116,555 (GRCm39) R898S possibly damaging Het
Synpo2l A G 14: 20,718,244 (GRCm39) V7A probably damaging Het
Thsd1 C T 8: 22,748,569 (GRCm39) A427V possibly damaging Het
Zfp235 A G 7: 23,840,040 (GRCm39) K153R 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
R0764:Tnfrsf17 UTSW 16 11,133,063 (GRCm39) missense possibly damaging 0.52
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
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
Posted On 2018-05-24