Incidental Mutation 'R5230:Tnfsf13b'
ID 403717
Institutional Source Beutler Lab
Gene Symbol Tnfsf13b
Ensembl Gene ENSMUSG00000031497
Gene Name tumor necrosis factor (ligand) superfamily, member 13b
Synonyms BLyS, TALL-1, zTNF4, D8Ertd387e, BAFF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5230 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 10056229-10086000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10081608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 257 (I257V)
Ref Sequence ENSEMBL: ENSMUSP00000146694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033892] [ENSMUST00000207792] [ENSMUST00000208683]
AlphaFold Q9WU72
Predicted Effect probably benign
Transcript: ENSMUST00000033892
AA Change: I238V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000033892
Gene: ENSMUSG00000031497
AA Change: I238V

DomainStartEndE-ValueType
low complexity region 48 67 N/A INTRINSIC
TNF 169 308 1.88e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000207792
AA Change: I257V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000208683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208770
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,651,820 (GRCm39) N1296S probably damaging Het
Abca5 A T 11: 110,210,686 (GRCm39) D164E probably benign Het
Adamts5 T C 16: 85,666,956 (GRCm39) D512G probably damaging Het
Ankrd11 G A 8: 123,617,216 (GRCm39) T2191I probably benign Het
Anxa3 T C 5: 96,986,171 (GRCm39) F270S possibly damaging Het
Bard1 A G 1: 71,092,770 (GRCm39) probably null Het
Ccdc142 T C 6: 83,084,777 (GRCm39) V591A probably damaging Het
Col6a3 C T 1: 90,716,776 (GRCm39) E1613K unknown Het
Dnah9 T A 11: 65,975,492 (GRCm39) H1519L probably damaging Het
Egf T C 3: 129,511,673 (GRCm39) D498G possibly damaging Het
Enah A C 1: 181,763,235 (GRCm39) probably benign Het
Fat3 A T 9: 15,901,856 (GRCm39) N3056K possibly damaging Het
Gm4846 T A 1: 166,317,748 (GRCm39) N223Y probably benign Het
Gm8104 A G 14: 42,958,975 (GRCm39) N55S probably damaging Het
Gpatch8 A G 11: 102,370,404 (GRCm39) S1045P probably damaging Het
Haus4 A G 14: 54,781,251 (GRCm39) M275T probably benign Het
Ighe T A 12: 113,235,006 (GRCm39) T385S unknown Het
Ipo9 G A 1: 135,347,808 (GRCm39) S78L probably damaging Het
Kif21b G A 1: 136,099,411 (GRCm39) V1473M probably damaging Het
Lama1 T A 17: 68,052,078 (GRCm39) Y345* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Loxl3 A G 6: 83,012,775 (GRCm39) T105A probably benign Het
Map4k3 A G 17: 80,922,599 (GRCm39) S441P probably benign Het
Med12l C T 3: 59,153,209 (GRCm39) T1078I probably damaging Het
Mef2c T A 13: 83,801,026 (GRCm39) M242K possibly damaging Het
Morc2b A G 17: 33,355,226 (GRCm39) Y849H probably benign Het
Mroh2b T A 15: 4,971,004 (GRCm39) V1003E probably benign Het
Myo15a T A 11: 60,393,674 (GRCm39) M1135K possibly damaging Het
Nckap1l A T 15: 103,392,066 (GRCm39) I834F probably benign Het
Nrg1 T A 8: 32,308,507 (GRCm39) Y503F probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4f61 A T 2: 111,922,734 (GRCm39) I104N probably benign Het
Pcdhga2 T C 18: 37,802,795 (GRCm39) V213A probably benign Het
Pdzd2 A T 15: 12,390,119 (GRCm39) M826K probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Rnf38 T C 4: 44,149,176 (GRCm39) Q57R probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpina6 T C 12: 103,618,157 (GRCm39) T219A probably benign Het
Spata31d1c T A 13: 65,183,248 (GRCm39) N263K probably benign Het
Spef2 T G 15: 9,667,316 (GRCm39) I791L possibly damaging Het
Sv2a T C 3: 96,092,776 (GRCm39) C159R probably damaging Het
Tbc1d31 T A 15: 57,824,315 (GRCm39) L859Q probably damaging Het
Tecta C A 9: 42,306,239 (GRCm39) R63L probably damaging Het
Tex52 A G 6: 128,361,779 (GRCm39) E252G probably damaging Het
Tpk1 A G 6: 43,400,653 (GRCm39) L172P probably damaging Het
Trim3 T G 7: 105,268,720 (GRCm39) N78T possibly damaging Het
Try5 A G 6: 41,289,312 (GRCm39) V88A probably benign Het
Vmn1r222 T G 13: 23,417,172 (GRCm39) M14L probably benign Het
Wdr90 A T 17: 26,074,277 (GRCm39) V678E probably benign Het
Zan A G 5: 137,452,340 (GRCm39) L1543P unknown Het
Other mutations in Tnfsf13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Tnfsf13b APN 8 10,081,612 (GRCm39) missense probably damaging 1.00
IGL01383:Tnfsf13b APN 8 10,081,528 (GRCm39) missense probably damaging 0.98
IGL01650:Tnfsf13b APN 8 10,081,411 (GRCm39) missense probably damaging 1.00
Applecrisp UTSW 8 10,081,534 (GRCm39) missense probably damaging 1.00
arrested UTSW 8 10,081,545 (GRCm39) missense possibly damaging 0.48
Frozen UTSW 8 10,081,661 (GRCm39) splice site probably null
F5493:Tnfsf13b UTSW 8 10,056,916 (GRCm39) missense probably damaging 1.00
R0610:Tnfsf13b UTSW 8 10,081,661 (GRCm39) splice site probably null
R0723:Tnfsf13b UTSW 8 10,057,166 (GRCm39) splice site probably null
R1435:Tnfsf13b UTSW 8 10,085,358 (GRCm39) missense probably benign 0.06
R1648:Tnfsf13b UTSW 8 10,081,534 (GRCm39) missense probably damaging 1.00
R1744:Tnfsf13b UTSW 8 10,081,661 (GRCm39) splice site probably null
R2266:Tnfsf13b UTSW 8 10,057,306 (GRCm39) missense probably benign 0.23
R3723:Tnfsf13b UTSW 8 10,081,545 (GRCm39) missense possibly damaging 0.48
R5913:Tnfsf13b UTSW 8 10,056,988 (GRCm39) missense probably damaging 1.00
R6741:Tnfsf13b UTSW 8 10,057,314 (GRCm39) missense possibly damaging 0.66
R7310:Tnfsf13b UTSW 8 10,081,651 (GRCm39) nonsense probably null
R7882:Tnfsf13b UTSW 8 10,057,078 (GRCm39) missense not run
R8420:Tnfsf13b UTSW 8 10,056,795 (GRCm39) start gained probably benign
R9124:Tnfsf13b UTSW 8 10,056,966 (GRCm39) missense probably benign
R9374:Tnfsf13b UTSW 8 10,085,391 (GRCm39) missense possibly damaging 0.74
R9474:Tnfsf13b UTSW 8 10,081,648 (GRCm39) missense probably damaging 1.00
Z1177:Tnfsf13b UTSW 8 10,085,427 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AGGTAGCGTCAAACTCTCCC -3'
(R):5'- TGATATCAGTTTTCTCCGTCAACAC -3'

Sequencing Primer
(F):5'- GTAGCGTCAAACTCTCCCCTACC -3'
(R):5'- GTTTTCTCCGTCAACACAAATTATTG -3'
Posted On 2016-07-22