Mutagenetix > Incidental Mutation

Incidental Mutation 'R2517:Tnfrsf13b'

253959

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf13b

Ensembl Gene

ENSMUSG00000010142

Gene Name

tumor necrosis factor receptor superfamily, member 13b

Synonyms

Taci, 1200009E08Rik

MMRRC Submission

040421-MU

Accession Numbers

Essential gene?

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

Stock #

R2517 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

61017581-61040198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 61032302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 59 (S59A)

Ref Sequence

ENSEMBL: ENSMUSP00000116943 (fasta)

Gene Model

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

AlphaFold

Q9ET35

Predicted Effect

probably benign
Transcript: ENSMUST00000010286
AA Change: S111A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000010286
Gene: ENSMUSG00000010142
AA Change: S111A

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: S111A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098662
Gene: ENSMUSG00000010142
AA Change: S111A

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: S111A

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116175
Gene: ENSMUSG00000010142
AA Change: S111A

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
AA Change: S59A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

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 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	A	14: 56,019,403 (GRCm39)	E82D	probably damaging	Het
Ago1	G	A	4: 126,333,732 (GRCm39)	R486*	probably null	Het
Ago2	T	A	15: 72,996,091 (GRCm39)	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,401,395 (GRCm39)	D294V	probably benign	Het
Atp13a5	A	G	16: 29,116,215 (GRCm39)	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,595,576 (GRCm39)	P953L	probably damaging	Het
Brca2	A	G	5: 150,463,137 (GRCm39)	D967G	probably benign	Het
Bud13	A	T	9: 46,199,446 (GRCm39)	H269L	probably benign	Het
Cachd1	A	T	4: 100,838,079 (GRCm39)		probably null	Het
Cog3	T	C	14: 75,979,182 (GRCm39)	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492 (GRCm39)	S20P	probably damaging	Het
Col4a3	A	G	1: 82,658,431 (GRCm39)	D838G	unknown	Het
Cwh43	A	T	5: 73,578,886 (GRCm39)	T298S	probably benign	Het
Dip2c	A	G	13: 9,659,041 (GRCm39)	R847G	probably damaging	Het
Dnah2	C	T	11: 69,407,470 (GRCm39)	D438N	probably damaging	Het
Drg2	T	C	11: 60,358,954 (GRCm39)	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,171,168 (GRCm39)	W220R	probably damaging	Het
Enpp2	A	T	15: 54,783,090 (GRCm39)	I75K	probably damaging	Het
Fam110c	T	C	12: 31,125,238 (GRCm39)	I400T	probably damaging	Het
Fam193b	C	A	13: 55,690,629 (GRCm39)	R711L	probably damaging	Het
Fgfr1	T	C	8: 26,053,462 (GRCm39)	Y246H	probably damaging	Het
Frs3	G	A	17: 48,013,997 (GRCm39)	R230Q	probably benign	Het
Galnt5	A	G	2: 57,889,425 (GRCm39)	K342E	probably benign	Het
Glrb	A	T	3: 80,769,054 (GRCm39)	L189Q	probably damaging	Het
Gmeb2	T	C	2: 180,900,819 (GRCm39)	T193A	probably benign	Het
Gnl3	A	G	14: 30,736,120 (GRCm39)	S307P	probably damaging	Het
Golim4	A	T	3: 75,800,166 (GRCm39)	F443I	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Klf10	A	C	15: 38,297,357 (GRCm39)	Y228D	probably benign	Het
Klrc3	A	T	6: 129,616,520 (GRCm39)	W166R	probably damaging	Het
Kng2	A	T	16: 22,807,065 (GRCm39)	I378N	probably benign	Het
Map3k10	T	C	7: 27,362,688 (GRCm39)	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,079,109 (GRCm39)	T245M	probably benign	Het
Msi1	A	G	5: 115,583,517 (GRCm39)	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,525,501 (GRCm39)		probably null	Het
Or1x6	T	A	11: 50,939,300 (GRCm39)	L122Q	probably damaging	Het
Or7g25	A	T	9: 19,160,357 (GRCm39)	C113S	probably benign	Het
P3r3urf	A	G	4: 116,030,791 (GRCm39)	D65G	probably benign	Het
Pkd1l1	T	C	11: 8,908,900 (GRCm39)	E368G	unknown	Het
Polq	G	A	16: 36,909,687 (GRCm39)	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,893,942 (GRCm39)	I134L	probably damaging	Het
Rasip1	A	T	7: 45,284,247 (GRCm39)	I608F	probably damaging	Het
Ripk3	A	T	14: 56,025,492 (GRCm39)	V24E	probably damaging	Het
Rtkn	T	A	6: 83,124,526 (GRCm39)	I110N	probably damaging	Het
Scn1a	C	T	2: 66,104,176 (GRCm39)	V1695I	probably damaging	Het
Shank2	A	G	7: 143,606,042 (GRCm39)	N75S	possibly damaging	Het
Snu13	C	A	15: 81,928,182 (GRCm39)	A14S	probably benign	Het
Snx27	A	C	3: 94,438,541 (GRCm39)	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,283 (GRCm39)	I158T	possibly damaging	Het
Sptb	A	G	12: 76,696,643 (GRCm39)	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,817,970 (GRCm39)	L175P	probably damaging	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tecr	C	T	8: 84,299,204 (GRCm39)	V248I	probably benign	Het
Tom1l1	T	C	11: 90,561,951 (GRCm39)	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,766,362 (GRCm39)	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,692,577 (GRCm39)	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het
Vstm4	T	A	14: 32,585,664 (GRCm39)	M77K	probably benign	Het
Zbtb17	C	T	4: 141,191,896 (GRCm39)	T309I	probably damaging	Het
Zfp957	T	C	14: 79,451,494 (GRCm39)	T102A	probably 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
R4298:Tnfrsf13b	UTSW	11	61,031,643 (GRCm39)	splice site	probably null
R4299:Tnfrsf13b	UTSW	11	61,031,643 (GRCm39)	splice site	probably null
R4454:Tnfrsf13b	UTSW	11	61,032,264 (GRCm39)	missense	probably benign	0.33
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'- AGGCAGGTACTACGACCATCTC -3'
(R):5'- GACAAAATTTCCCACAGGCTTC -3'

Sequencing Primer
(F):5'- AGGTACTACGACCATCTCCTGGG -3'
(R):5'- CCACAGGCTTCTGAAATTTTGATC -3'

Posted On

2014-12-04