Mutagenetix > Incidental Mutation

Incidental Mutation 'R7882:Tnfsf13b'

608823

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

MMRRC Submission

045934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7882 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10056229-10086000 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10057078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 79 (N79S)

Ref Sequence

ENSEMBL: ENSMUSP00000146694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207792]

AlphaFold

Q9WU72

Predicted Effect

not run
Transcript: ENSMUST00000207792
AA Change: N79S

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,644,250 (GRCm39)	E110*	probably null	Het
Adad1	G	T	3: 37,133,951 (GRCm39)	V289F	probably damaging	Het
Adgra2	A	G	8: 27,607,440 (GRCm39)	D717G	probably benign	Het
Arid3b	T	C	9: 57,703,780 (GRCm39)	I389M	possibly damaging	Het
Axdnd1	A	G	1: 156,225,023 (GRCm39)	V47A		Het
Cachd1	T	A	4: 100,824,244 (GRCm39)	L562M	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccpg1	T	C	9: 72,922,787 (GRCm39)	F799S	probably damaging	Het
Ces1c	T	C	8: 93,833,231 (GRCm39)	I411M	probably benign	Het
Cgn	T	G	3: 94,669,941 (GRCm39)	K1066N	probably damaging	Het
Cntn4	A	G	6: 106,330,684 (GRCm39)	I101V	probably benign	Het
Cntrl	A	G	2: 35,060,592 (GRCm39)	E1928G	probably benign	Het
Cxcl12	A	G	6: 117,148,464 (GRCm39)	Y28C	probably damaging	Het
Cyp2r1	A	T	7: 114,153,824 (GRCm39)		probably null	Het
D430041D05Rik	C	T	2: 104,087,974 (GRCm39)	W334*	probably null	Het
Dsp	G	A	13: 38,367,994 (GRCm39)	R671Q	possibly damaging	Het
Fancm	A	G	12: 65,173,568 (GRCm39)	K1960R	probably benign	Het
Fgd5	T	A	6: 92,045,459 (GRCm39)	Y1331N	probably damaging	Het
Ina	G	A	19: 47,004,100 (GRCm39)	E303K		Het
Kctd3	C	A	1: 188,715,243 (GRCm39)	V369F	possibly damaging	Het
Kif14	T	C	1: 136,399,314 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,443,763 (GRCm39)	V1312A	probably benign	Het
Krt84	T	C	15: 101,436,826 (GRCm39)	I403V	probably benign	Het
Krtap9-1	A	C	11: 99,764,356 (GRCm39)	T31P	unknown	Het
Lyrm9	A	T	11: 78,728,967 (GRCm39)	I60F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mmp28	T	C	11: 83,334,752 (GRCm39)	D334G	probably damaging	Het
Nr1h5	T	C	3: 102,856,931 (GRCm39)	T194A	possibly damaging	Het
Nrf1	A	G	6: 30,090,299 (GRCm39)	I85M	probably benign	Het
Nrp2	C	T	1: 62,822,680 (GRCm39)	R758C	probably damaging	Het
Or5b116	A	T	19: 13,422,951 (GRCm39)	T192S	probably benign	Het
Pcdhga4	A	G	18: 37,819,681 (GRCm39)	D410G	probably damaging	Het
Pld1	T	C	3: 28,099,158 (GRCm39)	V275A	probably damaging	Het
Plxnc1	A	T	10: 94,679,698 (GRCm39)	F895I	probably benign	Het
Polr2a	A	G	11: 69,627,000 (GRCm39)	I1486T	possibly damaging	Het
Ptprz1	A	G	6: 23,002,256 (GRCm39)	M1449V	probably benign	Het
Rspo4	C	A	2: 151,711,746 (GRCm39)	T156N	probably damaging	Het
Sacs	A	G	14: 61,444,520 (GRCm39)	I2189V	probably benign	Het
Stat5b	A	C	11: 100,674,601 (GRCm39)	F711V	possibly damaging	Het
Stk11ip	C	A	1: 75,506,108 (GRCm39)	Q543K	probably benign	Het
Tarbp1	G	A	8: 127,183,232 (GRCm39)	T529M	probably damaging	Het
Thada	A	T	17: 84,736,624 (GRCm39)	C886S	possibly damaging	Het
Tmem19	A	G	10: 115,179,608 (GRCm39)	F296S	probably benign	Het
Vdac3	C	A	8: 23,069,073 (GRCm39)	G214C	probably damaging	Het
Vmn2r18	A	C	5: 151,485,329 (GRCm39)	F722V	probably damaging	Het
Vmn2r45	A	G	7: 8,486,409 (GRCm39)	L293S	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Xpot	A	G	10: 121,454,996 (GRCm39)		probably null	Het
Zfp526	G	A	7: 24,920,860 (GRCm39)		probably benign	Het
Zfp532	A	G	18: 65,756,561 (GRCm39)	T165A	probably benign	Het

Other mutations in Tnfsf13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5230:Tnfsf13b	UTSW	8	10,081,608 (GRCm39)	missense	possibly damaging	0.80
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
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

Posted On

2019-12-20