Incidental Mutation 'IGL01650:Tnfsf13b'
ID 102809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf13b
Ensembl Gene ENSMUSG00000031497
Gene Name tumor necrosis factor (ligand) superfamily, member 13b
Synonyms D8Ertd387e, BAFF, BLyS, TALL-1, zTNF4
Accession Numbers

Genbank: NM_033622
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01650
Quality Score
Status
Chromosome 8
Chromosomal Location 10006467-10039072 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10031411 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 219 (I219F)
Ref Sequence ENSEMBL: ENSMUSP00000146694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033892] [ENSMUST00000207792] [ENSMUST00000208683]
AlphaFold Q9WU72
Predicted Effect possibly damaging
Transcript: ENSMUST00000033892
AA Change: I200F

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033892
Gene: ENSMUSG00000031497
AA Change: I200F

DomainStartEndE-ValueType
low complexity region 48 67 N/A INTRINSIC
TNF 169 308 1.88e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207792
AA Change: I219F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208770
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 cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice have reduced number of B cells and reduced levels of immunoglobulins. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,992,673 probably benign Het
Agbl1 A G 7: 76,420,319 D281G probably damaging Het
Arhgap28 T C 17: 67,873,132 E236G probably damaging Het
Btbd3 A T 2: 138,284,105 D334V probably damaging Het
Cabp4 T C 19: 4,139,324 E78G probably benign Het
Clcn4 T C 7: 7,284,281 probably benign Het
Col14a1 A G 15: 55,406,693 Y600C unknown Het
Cpne4 A G 9: 104,901,511 D167G probably damaging Het
Eif3a T A 19: 60,773,996 I450F probably damaging Het
Enpp2 T A 15: 54,919,933 Y10F probably benign Het
Fam227a A T 15: 79,634,073 H339Q possibly damaging Het
Far2 C A 6: 148,173,487 T406K possibly damaging Het
Fmo1 A G 1: 162,833,584 S377P probably benign Het
Fsip2 G A 2: 82,991,086 S5721N probably benign Het
Gatb T C 3: 85,613,484 I300T possibly damaging Het
Gpam T C 19: 55,081,700 N375D probably benign Het
Gsdma G T 11: 98,673,687 D331Y probably damaging Het
Kif13b T C 14: 64,765,145 V1073A probably benign Het
Mfsd4b1 T A 10: 40,003,119 M261L probably benign Het
Nav1 A T 1: 135,454,760 D1321E probably damaging Het
Olfr1312 A G 2: 112,042,375 I219T possibly damaging Het
Olfr592 A G 7: 103,187,079 I159M probably benign Het
Olfr813 T A 10: 129,857,067 L183Q probably damaging Het
Olfr816 A G 10: 129,911,681 V199A probably benign Het
Olfr951 G T 9: 39,393,956 S55I probably damaging Het
Ppp1r10 G T 17: 35,931,161 R857L unknown Het
Prune2 T A 19: 17,168,292 I2752N possibly damaging Het
Pxdn T C 12: 30,002,401 I859T probably benign Het
Ros1 T C 10: 52,154,979 D510G probably damaging Het
Sema3g C A 14: 31,221,787 P208H probably benign Het
Smcr8 T C 11: 60,778,184 F53L probably damaging Het
Vmn1r62 T C 7: 5,676,025 V235A probably damaging Het
Vmn2r44 C A 7: 8,380,104 probably null Het
Zkscan7 A G 9: 122,894,827 D287G probably benign Het
Other mutations in Tnfsf13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Tnfsf13b APN 8 10031612 missense probably damaging 1.00
IGL01383:Tnfsf13b APN 8 10031528 missense probably damaging 0.98
Applecrisp UTSW 8 10031534 missense probably damaging 1.00
arrested UTSW 8 10031545 missense possibly damaging 0.48
Frozen UTSW 8 10031661 splice site probably null
F5493:Tnfsf13b UTSW 8 10006916 missense probably damaging 1.00
R0610:Tnfsf13b UTSW 8 10031661 splice site probably null
R0723:Tnfsf13b UTSW 8 10007166 splice site probably null
R1435:Tnfsf13b UTSW 8 10035358 missense probably benign 0.06
R1648:Tnfsf13b UTSW 8 10031534 missense probably damaging 1.00
R1744:Tnfsf13b UTSW 8 10031661 splice site probably null
R2266:Tnfsf13b UTSW 8 10007306 missense probably benign 0.23
R3723:Tnfsf13b UTSW 8 10031545 missense possibly damaging 0.48
R5230:Tnfsf13b UTSW 8 10031608 missense possibly damaging 0.80
R5913:Tnfsf13b UTSW 8 10006988 missense probably damaging 1.00
R6741:Tnfsf13b UTSW 8 10007314 missense possibly damaging 0.66
R7310:Tnfsf13b UTSW 8 10031651 nonsense probably null
R7882:Tnfsf13b UTSW 8 10007078 missense not run
R8420:Tnfsf13b UTSW 8 10006795 start gained probably benign
R9124:Tnfsf13b UTSW 8 10006966 missense probably benign
R9374:Tnfsf13b UTSW 8 10035391 missense possibly damaging 0.74
R9474:Tnfsf13b UTSW 8 10031648 missense probably damaging 1.00
Z1177:Tnfsf13b UTSW 8 10035427 missense probably benign 0.26
Posted On 2014-01-21