Mutagenetix > Incidental Mutation

Incidental Mutation 'R4454:Tnfrsf13b'

329098

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf13b

Ensembl Gene

ENSMUSG00000010142

Gene Name

tumor necrosis factor receptor superfamily, member 13b

Synonyms

Taci, 1200009E08Rik

MMRRC Submission

041714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4454 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61017581-61040198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61032264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 98 (V98A)

Ref Sequence

ENSEMBL: ENSMUSP00000116175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010286] [ENSMUST00000101103] [ENSMUST00000139422] [ENSMUST00000146033]

AlphaFold

Q9ET35

Predicted Effect

probably benign
Transcript: ENSMUST00000010286
AA Change: V98A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000010286
Gene: ENSMUSG00000010142
AA Change: V98A

Domain	Start	End	E-Value	Type
internal_repeat_1	6	39	6.78e-5	PROSPERO
Pfam:TACI-CRD2	41	79	1.7e-24	PFAM
transmembrane domain	126	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101103
AA Change: V98A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098662
Gene: ENSMUSG00000010142
AA Change: V98A

Domain	Start	End	E-Value	Type
internal_repeat_1	6	39	6.78e-5	PROSPERO
Pfam:TACI-CRD2	41	81	2.6e-33	PFAM
transmembrane domain	126	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137832

Predicted Effect

probably benign
Transcript: ENSMUST00000139422
AA Change: V98A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116175
Gene: ENSMUSG00000010142
AA Change: V98A

Domain	Start	End	E-Value	Type
internal_repeat_1	6	39	1.03e-5	PROSPERO
Pfam:TACI-CRD2	41	81	9.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146033

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

100% (51/51)

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 lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show increased B cell numbers and splenomegaly. Homozygotes for a null allele show impaired T cell-independent immune responses and isotype switching. Homozygotes for another null allele develop lymphoproliferation and fatal autoimmune nephritis with high titers of autoantibodies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	A	2: 126,889,061 (GRCm39)	F509I	probably damaging	Het
Asmt	A	T	X: 169,106,456 (GRCm39)	M19L	probably benign	Het
Atf6	C	T	1: 170,621,608 (GRCm39)	R471Q	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Baiap3	T	A	17: 25,468,510 (GRCm39)	D250V	probably damaging	Het
C2cd4d	T	A	3: 94,271,054 (GRCm39)	F107I	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cldn6	T	C	17: 23,900,060 (GRCm39)		probably null	Het
Cpa5	A	G	6: 30,626,323 (GRCm39)	N228S	possibly damaging	Het
Cracdl	T	C	1: 37,663,834 (GRCm39)	E163G	probably damaging	Het
Crocc	T	C	4: 140,747,716 (GRCm39)	S1478G	possibly damaging	Het
Csmd1	A	T	8: 15,995,011 (GRCm39)	C2675S	probably damaging	Het
Cthrc1	C	A	15: 38,940,408 (GRCm39)	Q4K	probably benign	Het
Ddo	A	T	10: 40,523,543 (GRCm39)	I178F	probably damaging	Het
Dmxl1	A	G	18: 50,026,399 (GRCm39)	T1836A	probably benign	Het
Dnah9	T	G	11: 66,038,215 (GRCm39)	Q107P	probably damaging	Het
Dusp26	A	G	8: 31,584,172 (GRCm39)	N93S	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Epha5	T	C	5: 84,304,303 (GRCm39)	I501V	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Fam227b	T	A	2: 125,988,188 (GRCm39)		probably benign	Het
Fgd5	C	T	6: 91,966,167 (GRCm39)	S642F	probably damaging	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gm12034	T	A	11: 20,396,476 (GRCm39)		noncoding transcript	Het
Liph	T	C	16: 21,803,018 (GRCm39)	D17G	probably benign	Het
Mbd3	A	T	10: 80,229,817 (GRCm39)	L164H	probably damaging	Het
Med4	A	G	14: 73,755,502 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nav2	A	T	7: 49,198,292 (GRCm39)		probably null	Het
Or4k1	T	C	14: 50,377,953 (GRCm39)	I48V	probably benign	Het
Or8b1b	C	A	9: 38,375,938 (GRCm39)	F200L	probably benign	Het
Pcdha11	G	A	18: 37,140,426 (GRCm39)	G685D	probably benign	Het
Pgc	A	G	17: 48,043,335 (GRCm39)	I228V	probably benign	Het
Pramel25	A	G	4: 143,519,394 (GRCm39)	S52G	probably benign	Het
Rad51	C	T	2: 118,962,049 (GRCm39)	H199Y	probably damaging	Het
Robo2	A	T	16: 74,149,407 (GRCm39)		probably benign	Het
Sap130	C	T	18: 31,844,413 (GRCm39)	T861I	probably damaging	Het
Sh3tc2	A	T	18: 62,140,844 (GRCm39)	D1061V	probably damaging	Het
Shoc1	T	C	4: 59,092,383 (GRCm39)	D266G	possibly damaging	Het
Snapc3	A	G	4: 83,336,996 (GRCm39)	E119G	probably damaging	Het
Sspo	G	A	6: 48,464,159 (GRCm39)	G3862D	probably benign	Het
Tbc1d16	G	A	11: 119,048,699 (GRCm39)	T318M	possibly damaging	Het
Thrb	T	A	14: 18,011,187 (GRCm38)	W188R	probably damaging	Het
Thsd1	T	C	8: 22,733,594 (GRCm39)	Y214H	probably damaging	Het
Topbp1	T	C	9: 103,222,070 (GRCm39)	Y1314H	probably damaging	Het
Ttn	C	A	2: 76,616,150 (GRCm39)	V8271L	possibly damaging	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Utrn	G	T	10: 12,603,584 (GRCm39)	Q599K	possibly damaging	Het
Zfp995	G	A	17: 22,098,932 (GRCm39)	T434I	probably benign	Het
Zfy1	G	T	Y: 725,518 (GRCm39)	T749K	possibly damaging	Het

Other mutations in Tnfrsf13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Tnfrsf13b	APN	11	61,032,146 (GRCm39)	missense	possibly damaging	0.51
R0523:Tnfrsf13b	UTSW	11	61,038,413 (GRCm39)	missense	probably benign	0.33
R2297:Tnfrsf13b	UTSW	11	61,038,271 (GRCm39)	missense	probably benign
R2517:Tnfrsf13b	UTSW	11	61,032,302 (GRCm39)	missense	probably benign	0.27
R4298:Tnfrsf13b	UTSW	11	61,031,643 (GRCm39)	splice site	probably null
R4299:Tnfrsf13b	UTSW	11	61,031,643 (GRCm39)	splice site	probably null
R4931:Tnfrsf13b	UTSW	11	61,031,763 (GRCm39)	missense	possibly damaging	0.66
R5416:Tnfrsf13b	UTSW	11	61,037,849 (GRCm39)	splice site	probably null
R7995:Tnfrsf13b	UTSW	11	61,031,742 (GRCm39)	nonsense	probably null
R8531:Tnfrsf13b	UTSW	11	61,031,777 (GRCm39)	critical splice donor site	probably null
R8790:Tnfrsf13b	UTSW	11	61,038,350 (GRCm39)	missense	possibly damaging	0.53
R8858:Tnfrsf13b	UTSW	11	61,038,363 (GRCm39)	missense	possibly damaging	0.73
RF013:Tnfrsf13b	UTSW	11	61,032,270 (GRCm39)	missense	probably benign
Z1176:Tnfrsf13b	UTSW	11	61,037,836 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AACTCCTGTGAGCCCAGAAC -3'
(R):5'- GGATATTTGCCTAGAGTCTGAGCC -3'

Sequencing Primer
(F):5'- TGTGAGCCCAGAACACCTG -3'
(R):5'- GAGTCTGAGCCTCTTGAACTAAAGAC -3'

Posted On

2015-07-21