Mutagenetix > Incidental Mutations

Incidental Mutation 'R6254:Tnfsf13'

506006

Institutional Source

Beutler Lab

Gene Symbol

Tnfsf13

Ensembl Gene

ENSMUSG00000089669

Gene Name

tumor necrosis factor (ligand) superfamily, member 13

Synonyms

APRIL, 2310026N09Rik, TRDL1, TALL2

MMRRC Submission

044371-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69682846-69685784 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 69684483 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000018896] [ENSMUST00000066760] [ENSMUST00000108648] [ENSMUST00000108649] [ENSMUST00000174159] [ENSMUST00000180587] [ENSMUST00000181261] [ENSMUST00000181810]

Predicted Effect

probably benign
Transcript: ENSMUST00000005336

SMART Domains

Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
Pfam:Peptidase_C48	394	566	4.9e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000018896

SMART Domains

Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669

Domain	Start	End	E-Value	Type
Blast:TNF	39	87	1e-22	BLAST
low complexity region	101	106	N/A	INTRINSIC
TNF	107	240	7.41e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066760

SMART Domains

Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
Pfam:Peptidase_C48	394	566	4.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108648

SMART Domains

Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669

Domain	Start	End	E-Value	Type
Blast:TNF	39	87	1e-22	BLAST
TNF	97	224	6.21e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108649

SMART Domains

Protein: ENSMUSP00000104289
Gene: ENSMUSG00000018752

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
PDB:4HT1\|T	110	166	1e-31	PDB
Blast:TNF	117	166	4e-27	BLAST
low complexity region	190	195	N/A	INTRINSIC
TNF	196	329	7.41e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145435

Predicted Effect

probably null
Transcript: ENSMUST00000174159

SMART Domains

Protein: ENSMUSP00000133951
Gene: ENSMUSG00000018752

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
TNF	117	255	6.18e-10	SMART
low complexity region	269	274	N/A	INTRINSIC
TNF	275	408	7.41e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000180587

SMART Domains

Protein: ENSMUSP00000137973
Gene: ENSMUSG00000018752

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	91	110	N/A	INTRINSIC
TNF	118	256	6.18e-10	SMART
low complexity region	270	275	N/A	INTRINSIC
TNF	276	410	1.91e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181261

SMART Domains

Protein: ENSMUSP00000137916
Gene: ENSMUSG00000097328

Domain	Start	End	E-Value	Type
low complexity region	52	71	N/A	INTRINSIC
Blast:TNF	72	98	8e-8	BLAST
PDB:4HT1\|T	72	98	1e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000181810

SMART Domains

Protein: ENSMUSP00000137972
Gene: ENSMUSG00000097328

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
TNF	117	248	3.67e-35	SMART

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

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 member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice are viable and fertile. No apparent defects of the immune system have been reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	G	8: 13,706,043	D26G	possibly damaging	Het
Adam6b	A	T	12: 113,489,570	L2F	probably damaging	Het
Ank2	T	A	3: 126,941,804		probably benign	Het
Anpep	T	G	7: 79,839,233	D369A	probably damaging	Het
App	T	C	16: 84,978,177	E599G	probably damaging	Het
Asphd1	C	T	7: 126,948,868	V88I	probably benign	Het
Atad5	A	T	11: 80,127,389	I1389F	probably damaging	Het
Blm	T	C	7: 80,480,342	N950S	probably benign	Het
Bsn	A	T	9: 108,111,866	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,509,216	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,163		probably null	Het
Cdh1	T	A	8: 106,663,798	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,364,032	T160M	probably damaging	Het
Chrna5	A	G	9: 55,006,456	M325V	probably benign	Het
Clca3a2	A	G	3: 144,802,134	I116T	probably benign	Het
Cyp2c23	T	C	19: 44,005,463	K488R	probably benign	Het
Edil3	T	A	13: 89,319,729	I451N	probably damaging	Het
Exph5	T	G	9: 53,372,710	S364A	possibly damaging	Het
Fam84b	A	G	15: 60,823,801	I32T	probably damaging	Het
Fam98c	A	G	7: 29,154,517	S209P	probably damaging	Het
Fat3	G	A	9: 15,996,145	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,505,500		probably null	Het
Fermt2	T	C	14: 45,476,059	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,196,315		probably benign	Het
Fn3k	A	G	11: 121,435,068	E27G	probably damaging	Het
Foxj2	A	G	6: 122,838,139	H378R	probably damaging	Het
Fubp1	A	G	3: 152,232,408	K140E	possibly damaging	Het
Gm4788	A	G	1: 139,754,390	I156T	probably damaging	Het
Gm7694	A	T	1: 170,302,534	C98*	probably null	Het
Golgb1	T	C	16: 36,913,978	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,047,396		probably null	Het
Hltf	T	A	3: 20,063,829	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,695,270	R251H	probably benign	Het
Ipo7	T	A	7: 110,049,060	D688E	probably benign	Het
Itgal	T	A	7: 127,325,203	N897K	probably damaging	Het
Itsn2	A	G	12: 4,624,982		probably null	Het
Kcnk13	A	G	12: 99,965,372		probably benign	Het
Kdm7a	A	G	6: 39,170,269	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,349,874	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,275,912		probably benign	Het
Lingo1	T	A	9: 56,620,087	D406V	possibly damaging	Het
Lrriq1	A	T	10: 103,215,451	V480E	probably benign	Het
Mtcl1	C	T	17: 66,358,134	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,497,381	Q360*	probably null	Het
Muc6	T	C	7: 141,651,115	N252S	probably benign	Het
Naa20	T	C	2: 145,903,320	L4P	probably damaging	Het
Neb	T	A	2: 52,222,961	I4274L	probably benign	Het
Noa1	A	T	5: 77,309,669	F130I	probably benign	Het
Nrg4	G	T	9: 55,236,512	H87N	possibly damaging	Het
Olfr1024	T	A	2: 85,904,505	Y183F	probably damaging	Het
Olfr632	T	A	7: 103,937,534	H51Q	probably benign	Het
P3h3	C	T	6: 124,845,601	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,421,718	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,689,406	T71A	possibly damaging	Het
Plaur	T	A	7: 24,466,800	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,586,436	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,977,960	V614M	probably benign	Het
Ppp2r3a	T	C	9: 101,148,587	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,157,470	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptk7	C	A	17: 46,572,642	Q832H	probably damaging	Het
Qser1	T	C	2: 104,790,090	S126G	probably benign	Het
Rab3ip	A	T	10: 116,915,867	C332S	probably damaging	Het
Raly	C	A	2: 154,857,366	T30K	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,867,224	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,584,309	T57I	probably benign	Het
Samd4	A	G	14: 47,016,631	D184G	probably damaging	Het
Slc35f3	T	C	8: 126,321,094	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,699,877	I1467T	probably damaging	Het
Spag17	T	G	3: 100,065,585	I1371S	probably benign	Het
Sptan1	T	C	2: 30,007,549	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,421,697	A344V	probably benign	Het
Supt16	A	G	14: 52,170,834	W885R	probably damaging	Het
Tdrd9	T	A	12: 112,025,900		probably null	Het
Tmod1	A	G	4: 46,078,469		probably null	Het
Trim75	C	A	8: 64,983,442	E119*	probably null	Het
Wdr6	T	C	9: 108,574,911	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,718,283	R137H	probably benign	Het
Ythdf1	T	A	2: 180,911,150	Y424F	probably damaging	Het
Zfp984	G	T	4: 147,756,186	S69R	possibly damaging	Het
Zyg11a	A	G	4: 108,181,794	F743L	probably damaging	Het

Other mutations in Tnfsf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1517:Tnfsf13	UTSW	11	69684738	missense	possibly damaging	0.91
R1745:Tnfsf13	UTSW	11	69685147	missense	probably benign	0.02
R4825:Tnfsf13	UTSW	11	69685249	nonsense	probably null
R5613:Tnfsf13	UTSW	11	69683995	splice site	probably null
R7027:Tnfsf13	UTSW	11	69685132	critical splice acceptor site	probably null
R7778:Tnfsf13	UTSW	11	69685163	missense	probably damaging	0.96
R8094:Tnfsf13	UTSW	11	69685157	missense	probably damaging	0.99
R8095:Tnfsf13	UTSW	11	69685157	missense	probably damaging	0.99
R8096:Tnfsf13	UTSW	11	69685157	missense	probably damaging	0.99
R8392:Tnfsf13	UTSW	11	69683862	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTACAATGTCTCCCTGGG -3'
(R):5'- ACAAGAGTGAGTGAGCCCTG -3'

Sequencing Primer
(F):5'- ACGCCTAAGTACTGGTTGC -3'
(R):5'- AGTGAGCCCTGGGGTTTC -3'

Posted On

2018-02-28