Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Tnfsf13'

546069

Institutional Source

Beutler Lab

Gene Symbol

Tnfsf13

Ensembl Gene

ENSMUSG00000089669

Gene Name

tumor necrosis factor (ligand) superfamily, member 13

Synonyms

2310026N09Rik, TRDL1, TALL2, APRIL

MMRRC Submission

045128-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69573672-69576610 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 69575958 bp (GRCm39)

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]

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000018896
AA Change: Q43L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669
AA Change: Q43L

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 damaging
Transcript: ENSMUST00000108648
AA Change: Q43L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669
AA Change: Q43L

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

Predicted Effect

probably benign
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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	T	2: 127,852,003 (GRCm39)	M102L	probably benign	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Agap1	A	G	1: 89,816,444 (GRCm39)	H748R	probably benign	Het
Ahsg	T	C	16: 22,711,007 (GRCm39)	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,311,951 (GRCm39)	T394A	probably benign	Het
Apc	T	G	18: 34,445,129 (GRCm39)	V657G	probably damaging	Het
Arl2	T	C	19: 6,191,119 (GRCm39)	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,729,180 (GRCm39)	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,588,740 (GRCm39)	S320T	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
BC107364	T	G	3: 96,348,057 (GRCm39)	R77S	unknown	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccrl2	T	C	9: 110,884,953 (GRCm39)	K182E	probably benign	Het
Cd19	A	G	7: 126,009,671 (GRCm39)	V465A	possibly damaging	Het
Chrdl2	A	T	7: 99,671,240 (GRCm39)	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063 (GRCm39)	P376S	probably benign	Het
Cobll1	A	G	2: 64,919,847 (GRCm39)	S1194P	probably benign	Het
Col6a4	T	C	9: 105,944,213 (GRCm39)	Y1087C	probably damaging	Het
Col9a2	G	A	4: 120,901,216 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,763,289 (GRCm39)	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,670,665 (GRCm39)	Y529F	probably benign	Het
Eif3b	C	T	5: 140,411,043 (GRCm39)	R165W	probably damaging	Het
Erlec1	C	A	11: 30,900,790 (GRCm39)	C126F	probably damaging	Het
Fads2b	A	G	2: 85,315,871 (GRCm39)	Y440H	probably damaging	Het
Fat2	T	C	11: 55,160,259 (GRCm39)	T3285A	probably benign	Het
Fat2	G	A	11: 55,172,677 (GRCm39)	R2679*	probably null	Het
Fbxo31	T	C	8: 122,305,224 (GRCm39)	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,631,037 (GRCm39)	Y243H	probably damaging	Het
Flcn	C	T	11: 59,686,632 (GRCm39)	V374M	probably damaging	Het
Fndc5	A	G	4: 129,033,316 (GRCm39)	M128V	probably benign	Het
Gal3st1	A	G	11: 3,949,002 (GRCm39)	D403G	probably damaging	Het
Garem1	T	C	18: 21,263,051 (GRCm39)	N588D	probably benign	Het
Gas1	T	C	13: 60,324,047 (GRCm39)	T196A	probably damaging	Het
Gcn1	T	C	5: 115,754,605 (GRCm39)		probably null	Het
Gprc5d	T	G	6: 135,093,646 (GRCm39)	Q87P	probably damaging	Het
Grm1	A	G	10: 10,595,339 (GRCm39)	L763P	probably damaging	Het
Hivep2	G	T	10: 14,025,321 (GRCm39)	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,025,322 (GRCm39)	D2379Y	probably damaging	Het
Itgad	A	G	7: 127,782,161 (GRCm39)	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,834,206 (GRCm39)	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,453,997 (GRCm39)	S128G	probably benign	Het
Map3k9	T	C	12: 81,777,398 (GRCm39)	T528A	probably benign	Het
Mmp11	G	A	10: 75,768,230 (GRCm39)		probably benign	Het
Mycbpap	T	A	11: 94,405,440 (GRCm39)	I30F	probably damaging	Het
Nfya	T	C	17: 48,696,340 (GRCm39)	T335A	probably benign	Het
Npat	T	A	9: 53,481,216 (GRCm39)	S1008T	possibly damaging	Het
Or10al5	G	A	17: 38,063,300 (GRCm39)	C185Y	probably damaging	Het
Or12e10	A	G	2: 87,641,060 (GRCm39)	T299A	possibly damaging	Het
Or5p69	A	T	7: 107,967,557 (GRCm39)	M287L	probably damaging	Het
Or6c219	C	T	10: 129,781,041 (GRCm39)	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,052,766 (GRCm39)	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,164 (GRCm39)	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,854,415 (GRCm39)	D270G	probably damaging	Het
Pde2a	A	C	7: 101,160,804 (GRCm39)	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,198,431 (GRCm39)	D873G	probably benign	Het
Pno1	A	T	11: 17,158,880 (GRCm39)	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,004,160 (GRCm39)	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,210,267 (GRCm39)		probably benign	Het
Psma5	A	G	3: 108,172,484 (GRCm39)	I67V	probably benign	Het
Reep6	G	A	10: 80,169,799 (GRCm39)		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,557,848 (GRCm39)		probably benign	Het
Scyl2	C	G	10: 89,481,323 (GRCm39)		probably null	Het
Sdk1	T	A	5: 142,082,481 (GRCm39)		probably null	Het
Senp5	C	A	16: 31,808,113 (GRCm39)	K380N	probably benign	Het
Slc22a14	A	T	9: 119,060,281 (GRCm39)		probably null	Het
Slc26a5	T	A	5: 22,021,972 (GRCm39)	T485S	possibly damaging	Het
Slc44a5	T	C	3: 153,959,356 (GRCm39)	I349T	probably benign	Het
Smarca5	T	C	8: 81,463,355 (GRCm39)	E71G	probably benign	Het
Smok2a	A	T	17: 13,444,666 (GRCm39)	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,059,192 (GRCm39)	D388G	probably benign	Het
Tank	T	C	2: 61,483,766 (GRCm39)	V404A	probably benign	Het
Tek	A	G	4: 94,753,747 (GRCm39)	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,887,150 (GRCm39)	C16Y	probably benign	Het
Tmc1	A	G	19: 20,918,267 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,902,826 (GRCm39)	F1484L	probably benign	Het
Tnrc6c	T	A	11: 117,624,444 (GRCm39)	S919T	probably damaging	Het
Trim17	C	A	11: 58,859,442 (GRCm39)	Q219K	probably benign	Het
Trim5	T	A	7: 103,914,875 (GRCm39)	H389L	probably benign	Het
Trio	T	A	15: 27,805,740 (GRCm39)	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,120,258 (GRCm39)	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,219,441 (GRCm39)	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Vmn2r50	T	A	7: 9,781,539 (GRCm39)	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,533,548 (GRCm39)	A484E	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wdr36	T	A	18: 32,974,958 (GRCm39)	H103Q	probably benign	Het
Zfp534	G	A	4: 147,759,667 (GRCm39)	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,820,372 (GRCm39)	S897N	probably benign	Het

Other mutations in Tnfsf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1517:Tnfsf13	UTSW	11	69,575,564 (GRCm39)	missense	possibly damaging	0.91
R1745:Tnfsf13	UTSW	11	69,575,973 (GRCm39)	missense	probably benign	0.02
R4825:Tnfsf13	UTSW	11	69,576,075 (GRCm39)	nonsense	probably null
R5613:Tnfsf13	UTSW	11	69,574,821 (GRCm39)	splice site	probably null
R6254:Tnfsf13	UTSW	11	69,575,309 (GRCm39)	critical splice donor site	probably null
R7778:Tnfsf13	UTSW	11	69,575,989 (GRCm39)	missense	probably damaging	0.96
R8094:Tnfsf13	UTSW	11	69,575,983 (GRCm39)	missense	probably damaging	0.99
R8095:Tnfsf13	UTSW	11	69,575,983 (GRCm39)	missense	probably damaging	0.99
R8096:Tnfsf13	UTSW	11	69,575,983 (GRCm39)	missense	probably damaging	0.99
R8392:Tnfsf13	UTSW	11	69,574,688 (GRCm39)	missense	probably damaging	1.00
R9453:Tnfsf13	UTSW	11	69,576,010 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGGCTGTTCCCTTGACTTC -3'
(R):5'- CTCACTTCTGAGACCACAGC -3'

Sequencing Primer
(F):5'- CAATTTTGCAGATTGAGAGGCTC -3'
(R):5'- ACTTCTGAGACCACAGCTGTTGG -3'

Posted On

2019-05-13