Mutagenetix > Incidental Mutation

Incidental Mutation 'R1435:Tnfsf14'

159486

Institutional Source

Beutler Lab

Gene Symbol

Tnfsf14

Ensembl Gene

ENSMUSG00000005824

Gene Name

tumor necrosis factor (ligand) superfamily, member 14

Synonyms

LIGHT, HVEM-L

MMRRC Submission

039490-MU

Accession Numbers

Essential gene?

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

Stock #

R1435 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

57496492-57501177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57497605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 209 (E209V)

Ref Sequence

ENSEMBL: ENSMUSP00000005976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005976]

AlphaFold

Q9QYH9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005976
AA Change: E209V

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: E209V

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
TNF	92	239	1.22e-49	SMART

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.0%
20x: 81.3%

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 member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene leads to selective impairment of CD8+ T cell function. Mice homozygous for a knock-out allele exhibit defects in CD8+ T cell-mediated allogenic responses. Mice homozygous for a different knock-out allele show increased resistance to experimentally-induced hepatitis. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(7)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	G	11: 69,905,642 (GRCm39)	T62P	probably benign	Het
Amz1	A	T	5: 140,733,921 (GRCm39)	N166Y	probably damaging	Het
Anxa6	T	C	11: 54,882,236 (GRCm39)	Q518R	probably benign	Het
Aox3	G	A	1: 58,202,605 (GRCm39)		probably null	Het
Arid1a	C	T	4: 133,408,009 (GRCm39)	R2166Q	unknown	Het
Asb4	T	G	6: 5,398,410 (GRCm39)	I125S	probably benign	Het
Aspscr1	T	C	11: 120,580,048 (GRCm39)	S196P	probably benign	Het
Atxn3	A	G	12: 101,908,460 (GRCm39)	F131L	probably benign	Het
B3gnt5	T	A	16: 19,587,924 (GRCm39)	Y48N	probably damaging	Het
Bglap3	A	G	3: 88,276,453 (GRCm39)	M35T	possibly damaging	Het
Cabp1	A	T	5: 115,311,267 (GRCm39)	D79E	probably damaging	Het
Cemip2	A	T	19: 21,822,070 (GRCm39)	Q1155L	probably benign	Het
Chd2	C	T	7: 73,102,884 (GRCm39)	R1367Q	probably damaging	Het
Clec5a	T	A	6: 40,561,358 (GRCm39)	Q29L	probably damaging	Het
Cmtr2	T	C	8: 110,947,711 (GRCm39)	L7P	probably benign	Het
Cnbd1	T	C	4: 18,907,026 (GRCm39)	I183V	probably benign	Het
Col7a1	G	A	9: 108,792,341 (GRCm39)	G1297D	unknown	Het
Csnk1g3	G	A	18: 54,039,746 (GRCm39)		probably null	Het
Cyp4a32	A	T	4: 115,463,863 (GRCm39)	N134I	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dst	G	A	1: 34,153,026 (GRCm39)	V56M	probably damaging	Het
Engase	A	T	11: 118,375,727 (GRCm39)	T32S	probably damaging	Het
Fam117b	T	C	1: 60,008,222 (GRCm39)	I352T	possibly damaging	Het
Golga4	C	A	9: 118,364,508 (GRCm39)	D290E	probably benign	Het
Gtf2a1l	C	A	17: 89,001,743 (GRCm39)	H153N	probably damaging	Het
Hivep1	C	A	13: 42,311,519 (GRCm39)	T1253N	probably damaging	Het
Hps1	T	C	19: 42,750,714 (GRCm39)	S398G	probably benign	Het
Il1r2	T	A	1: 40,144,459 (GRCm39)	F49I	probably damaging	Het
Iqsec1	A	G	6: 90,649,006 (GRCm39)	S808P	probably damaging	Het
Lrrk1	A	G	7: 65,922,776 (GRCm39)	L289P	probably damaging	Het
Magi2	T	A	5: 20,563,943 (GRCm39)	D358E	probably damaging	Het
Man2b2	A	G	5: 36,970,411 (GRCm39)	W832R	probably damaging	Het
Mfsd4a	G	T	1: 131,995,494 (GRCm39)	T46K	probably damaging	Het
N4bp3	G	A	11: 51,535,167 (GRCm39)	R341W	probably damaging	Het
Odad2	T	A	18: 7,222,646 (GRCm39)	H541L	probably benign	Het
Or51f2	T	C	7: 102,526,974 (GRCm39)	S216P	probably damaging	Het
Or8s5	A	T	15: 98,238,209 (GRCm39)	H220Q	possibly damaging	Het
Otof	A	G	5: 30,536,039 (GRCm39)	L1353S	probably benign	Het
Pcsk5	A	T	19: 17,541,246 (GRCm39)	C844*	probably null	Het
Pdk2	T	C	11: 94,922,721 (GRCm39)	Y153C	probably damaging	Het
Pes1	T	C	11: 3,926,075 (GRCm39)	V292A	probably benign	Het
Pex14	T	C	4: 149,047,984 (GRCm39)	T198A	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pnpla2	G	A	7: 141,037,324 (GRCm39)	R109H	probably benign	Het
Polh	G	A	17: 46,505,181 (GRCm39)	T145I	probably damaging	Het
Polr3d	A	T	14: 70,677,479 (GRCm39)	V299E	probably benign	Het
Polr3e	C	T	7: 120,540,011 (GRCm39)	T586M	probably benign	Het
Rbm20	T	A	19: 53,802,588 (GRCm39)	F365L	probably benign	Het
Resf1	A	G	6: 149,227,580 (GRCm39)	T209A	probably benign	Het
Rnf213	G	T	11: 119,326,831 (GRCm39)	C1606F	probably damaging	Het
Sipa1l2	A	G	8: 126,195,464 (GRCm39)	V758A	probably damaging	Het
Slc22a16	T	A	10: 40,463,603 (GRCm39)	M451K	probably damaging	Het
Slc28a1	T	C	7: 80,803,265 (GRCm39)	S359P	probably damaging	Het
Slc45a1	G	T	4: 150,728,505 (GRCm39)	F99L	probably damaging	Het
Sp3	A	T	2: 72,768,500 (GRCm39)	N754K	possibly damaging	Het
Taf4b	A	T	18: 14,940,466 (GRCm39)	Q315L	probably damaging	Het
Tcstv2a	T	A	13: 120,725,524 (GRCm39)	W63R	probably damaging	Het
Tmprss15	A	T	16: 78,818,342 (GRCm39)	N544K	probably benign	Het
Tnfsf13b	A	G	8: 10,085,358 (GRCm39)	I283V	probably benign	Het
Uckl1	T	G	2: 181,214,926 (GRCm39)	S283R	probably benign	Het
Ush1g	T	C	11: 115,209,294 (GRCm39)	D300G	probably damaging	Het
Virma	C	T	4: 11,528,621 (GRCm39)	A1286V	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r59	A	T	7: 41,695,629 (GRCm39)	M261K	possibly damaging	Het
Vwf	A	T	6: 125,619,212 (GRCm39)	K1297*	probably null	Het
Zdbf2	G	A	1: 63,342,199 (GRCm39)	E193K	possibly damaging	Het
Zfp759	T	G	13: 67,286,830 (GRCm39)	I127S	possibly damaging	Het

Other mutations in Tnfsf14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Tnfsf14	APN	17	57,499,562 (GRCm39)	missense	possibly damaging	0.89
IGL00962:Tnfsf14	APN	17	57,499,906 (GRCm39)	nonsense	probably null
IGL02515:Tnfsf14	APN	17	57,499,600 (GRCm39)	missense	probably benign
P0015:Tnfsf14	UTSW	17	57,497,815 (GRCm39)	missense	probably damaging	1.00
R1566:Tnfsf14	UTSW	17	57,500,876 (GRCm39)	missense	probably benign
R1791:Tnfsf14	UTSW	17	57,497,867 (GRCm39)	missense	probably damaging	1.00
R1967:Tnfsf14	UTSW	17	57,497,807 (GRCm39)	missense	probably damaging	1.00
R2108:Tnfsf14	UTSW	17	57,497,867 (GRCm39)	missense	probably damaging	1.00
R2202:Tnfsf14	UTSW	17	57,497,638 (GRCm39)	missense	possibly damaging	0.67
R2203:Tnfsf14	UTSW	17	57,497,638 (GRCm39)	missense	possibly damaging	0.67
R2204:Tnfsf14	UTSW	17	57,497,638 (GRCm39)	missense	possibly damaging	0.67
R2205:Tnfsf14	UTSW	17	57,497,638 (GRCm39)	missense	possibly damaging	0.67
R2232:Tnfsf14	UTSW	17	57,500,876 (GRCm39)	missense	probably benign
R4790:Tnfsf14	UTSW	17	57,497,740 (GRCm39)	missense	probably damaging	1.00
R5434:Tnfsf14	UTSW	17	57,499,592 (GRCm39)	missense	probably benign	0.00
R7474:Tnfsf14	UTSW	17	57,497,848 (GRCm39)	missense
R7691:Tnfsf14	UTSW	17	57,501,024 (GRCm39)	missense	possibly damaging	0.92
R8499:Tnfsf14	UTSW	17	57,497,534 (GRCm39)	missense
R9330:Tnfsf14	UTSW	17	57,501,020 (GRCm39)	missense	probably damaging	1.00
Z1177:Tnfsf14	UTSW	17	57,501,089 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGAGGACTTCAAACCCTATTGCTG -3'
(R):5'- TGGACCTCTGTTATGGGAGACACG -3'

Sequencing Primer
(F):5'- AACCCTATTGCTGGGTTTGAG -3'
(R):5'- TGTGTACTCCAAAGTGCAGC -3'

Posted On

2014-03-14