Mutagenetix > Incidental Mutation

Incidental Mutation 'R5434:Tnfsf14'

428233

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

042999-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5434 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

57496492-57501177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57499592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 87 (S87P)

Ref Sequence

ENSEMBL: ENSMUSP00000005976 (fasta)

Gene Model

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

AlphaFold

Q9QYH9

Predicted Effect

probably benign
Transcript: ENSMUST00000005976
AA Change: S87P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: S87P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	G	T	9: 20,786,821 (GRCm39)	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,344,013 (GRCm39)	Y323C	probably damaging	Het
Arid5b	T	A	10: 67,932,719 (GRCm39)	H818L	possibly damaging	Het
Atg13	G	T	2: 91,515,110 (GRCm39)		probably null	Het
Bltp1	A	C	3: 36,929,665 (GRCm39)	D94A	probably damaging	Het
Bop1	T	C	15: 76,339,611 (GRCm39)	M245V	probably benign	Het
Ces2a	T	A	8: 105,464,041 (GRCm39)	F224L	probably damaging	Het
Cntnap5b	A	G	1: 99,999,926 (GRCm39)	H228R	probably benign	Het
Col9a2	A	T	4: 120,898,162 (GRCm39)	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744 (GRCm39)	T137N	probably benign	Het
Dennd4c	A	G	4: 86,729,693 (GRCm39)	N765S	probably benign	Het
Dnah12	A	G	14: 26,581,256 (GRCm39)	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,010,756 (GRCm39)	C123F	possibly damaging	Het
Flvcr1	C	A	1: 190,758,206 (GRCm39)	A29S	probably benign	Het
Frmd3	A	T	4: 74,106,033 (GRCm39)	I560F	probably damaging	Het
Galnt15	G	A	14: 31,771,800 (GRCm39)	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,006,405 (GRCm39)	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464 (GRCm39)	Y218*	probably null	Het
Hmcn2	C	A	2: 31,310,375 (GRCm39)	T3323N	probably damaging	Het
Idh1	T	A	1: 65,214,495 (GRCm39)	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,322,813 (GRCm39)		noncoding transcript	Het
Kcnj10	T	A	1: 172,197,047 (GRCm39)	V187E	probably damaging	Het
Khnyn	A	G	14: 56,124,957 (GRCm39)	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,660,880 (GRCm39)	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,500,862 (GRCm39)	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mgp	T	A	6: 136,849,772 (GRCm39)	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,448,588 (GRCm39)	H40Q	probably benign	Het
Necab3	A	G	2: 154,389,379 (GRCm39)	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,332,372 (GRCm39)	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861 (GRCm39)	R486W	probably damaging	Het
Nwd2	A	G	5: 63,964,991 (GRCm39)	K1525R	probably benign	Het
Odad2	T	C	18: 7,222,550 (GRCm39)	K573R	probably benign	Het
Pbrm1	G	T	14: 30,806,968 (GRCm39)	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,237,783 (GRCm39)	S872P	possibly damaging	Het
Retsat	A	G	6: 72,578,518 (GRCm39)	I77V	probably damaging	Het
Rpl32	A	G	6: 115,783,996 (GRCm39)	F77L	probably benign	Het
Ryr3	A	T	2: 112,624,814 (GRCm39)	V2202D	probably damaging	Het
Sars2	G	A	7: 28,449,716 (GRCm39)	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,006,263 (GRCm39)	T275N	probably benign	Het
Sf3a1	C	A	11: 4,124,041 (GRCm39)	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,025,744 (GRCm39)		probably benign	Het
St3gal3	A	G	4: 117,797,247 (GRCm39)	L332P	probably damaging	Het
Ston1	A	G	17: 88,952,739 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,018,649 (GRCm39)	S3383T	probably damaging	Het
Tektl1	A	T	10: 78,584,484 (GRCm39)	L346*	probably null	Het
Trap1	T	C	16: 3,862,529 (GRCm39)	D583G	probably benign	Het
Ube3d	A	T	9: 86,309,460 (GRCm39)	I212N	possibly damaging	Het
Usp34	T	A	11: 23,362,271 (GRCm39)	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,628,387 (GRCm39)	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,767,470 (GRCm39)	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	C	T	3: 159,639,976 (GRCm39)	R536C	probably damaging	Het
Zfhx3	A	G	8: 109,519,031 (GRCm39)	D51G	probably 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
R1435:Tnfsf14	UTSW	17	57,497,605 (GRCm39)	missense	possibly damaging	0.60
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
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'- TGTGTCCCCATGACTAGCAG -3'
(R):5'- AGAAGCAGAAATCTGGGTCC -3'

Sequencing Primer
(F):5'- CACTATGGCATGCACATGTG -3'
(R):5'- TCCAAAAGGGACAGAGCCTGAC -3'

Posted On

2016-09-01