Incidental Mutation 'IGL02880:Tnfrsf17'
ID 362771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf17
Ensembl Gene ENSMUSG00000022496
Gene Name tumor necrosis factor receptor superfamily, member 17
Synonyms Tnfrsf13, Tnfrsf13a, BCMA, BCM
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02880
Quality Score
Status
Chromosome 16
Chromosomal Location 11131676-11137938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11137622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 120 (Y120H)
Ref Sequence ENSEMBL: ENSMUSP00000023140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023140] [ENSMUST00000115814] [ENSMUST00000180792]
AlphaFold O88472
Predicted Effect probably damaging
Transcript: ENSMUST00000023140
AA Change: Y120H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023140
Gene: ENSMUSG00000022496
AA Change: Y120H

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
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankzf1 T C 1: 75,169,312 (GRCm39) S73P probably benign Het
Camsap3 T C 8: 3,653,913 (GRCm39) Y517H probably damaging Het
Catsperg1 C T 7: 28,894,910 (GRCm39) M562I possibly damaging Het
Ccdc18 A G 5: 108,283,310 (GRCm39) D7G probably benign Het
Ccdc65 A C 15: 98,606,973 (GRCm39) N60T probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Col19a1 A G 1: 24,365,054 (GRCm39) probably benign Het
Ddx6 T C 9: 44,524,194 (GRCm39) probably benign Het
Dync1i1 G A 6: 5,966,821 (GRCm39) probably null Het
Eml6 T C 11: 29,699,959 (GRCm39) N1726D probably benign Het
Exosc10 T C 4: 148,660,640 (GRCm39) S706P probably damaging Het
Fcamr C T 1: 130,741,071 (GRCm39) P497S probably benign Het
Galntl6 T C 8: 58,257,306 (GRCm39) E477G probably benign Het
Gatd1 T G 7: 140,990,951 (GRCm39) Q65H possibly damaging Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Lag3 A G 6: 124,882,434 (GRCm39) L354S probably benign Het
Lrp1 A C 10: 127,376,091 (GRCm39) V4342G probably benign Het
Rap1gds1 T C 3: 138,651,517 (GRCm39) I491V probably benign Het
Scrib A G 15: 75,937,973 (GRCm39) L291P probably damaging Het
Shoc2 T C 19: 54,019,525 (GRCm39) Y523H probably benign Het
Slc47a2 C T 11: 61,198,366 (GRCm39) G443E probably damaging Het
Smarca2 T A 19: 26,654,024 (GRCm39) probably benign Het
Stra6l C T 4: 45,885,278 (GRCm39) T582M possibly damaging Het
Tmem144 G A 3: 79,734,929 (GRCm39) T163I probably benign Het
Tspan3 G T 9: 56,053,800 (GRCm39) Q184K possibly damaging Het
Ttn A T 2: 76,628,270 (GRCm39) V14630D possibly damaging Het
Zfp236 T A 18: 82,642,584 (GRCm39) N1054I probably benign Het
Other mutations in Tnfrsf17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02556:Tnfrsf17 APN 16 11,131,811 (GRCm39) utr 5 prime probably benign
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
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
Posted On 2015-12-18