Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Tnfsf10'

697789

Institutional Source

Beutler Lab

Gene Symbol

Tnfsf10

Ensembl Gene

ENSMUSG00000039304

Gene Name

tumor necrosis factor (ligand) superfamily, member 10

Synonyms

APO-2L, A330042I21Rik, Trail

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27371226-27393814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27371407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

Ref Sequence

ENSEMBL: ENSMUSP00000040271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046383] [ENSMUST00000174840]

AlphaFold

P50592

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046383
AA Change: T38A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040271
Gene: ENSMUSG00000039304
AA Change: T38A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
TNF	146	290	5.35e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174840
AA Change: T38A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133917
Gene: ENSMUSG00000039304
AA Change: T38A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:TNF	156	226	7.1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

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 cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes for a null allele show thymus hyperplasia, abnormal negative T cell selection, increased susceptibility to autoimmune diseases and to tumor initiation and metastasis, and resistance to induced hepatitis. Homozygotes for another null allele are unable to control A20 lymphoma progression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,520,391 (GRCm39)	K79M	probably benign	Het
Amy1	T	C	3: 113,356,278 (GRCm39)	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,255,333 (GRCm39)	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,826,740 (GRCm39)	G35D	probably benign	Het
Cachd1	C	A	4: 100,634,339 (GRCm39)	P5Q	unknown	Het
Capn13	A	T	17: 73,652,191 (GRCm39)	I266N	probably damaging	Het
Chil3	A	G	3: 106,063,081 (GRCm39)	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,363,350 (GRCm39)	I571T	probably damaging	Het
Col14a1	A	G	15: 55,242,964 (GRCm39)	M371V	unknown	Het
Dag1	A	G	9: 108,085,467 (GRCm39)	L558P	possibly damaging	Het
Edem3	G	A	1: 151,694,270 (GRCm39)	E868K	probably benign	Het
Eif3k	T	C	7: 28,673,624 (GRCm39)	Y150C	probably damaging	Het
Farp1	T	C	14: 121,518,281 (GRCm39)	I988T	probably benign	Het
Fat3	A	G	9: 15,910,248 (GRCm39)	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112 (GRCm39)	I79T	probably benign	Het
Gbp8	T	C	5: 105,179,169 (GRCm39)	D110G	probably damaging	Het
Gm57858	G	T	3: 36,089,428 (GRCm39)	N165K	probably benign	Het
H2-M2	T	A	17: 37,793,428 (GRCm39)	M193L	probably benign	Het
H2-T13	A	G	17: 36,391,956 (GRCm39)	V39A	possibly damaging	Het
Ighv7-1	T	A	12: 113,860,110 (GRCm39)	D94V	probably damaging	Het
Il2ra	T	C	2: 11,689,202 (GRCm39)	F244L	possibly damaging	Het
Jag1	A	T	2: 136,931,764 (GRCm39)	H602Q	probably null	Het
Kidins220	A	T	12: 25,036,966 (GRCm39)	I16F	possibly damaging	Het
Klb	A	G	5: 65,529,368 (GRCm39)	T299A	possibly damaging	Het
Lama4	A	G	10: 38,951,444 (GRCm39)	K1063R	probably benign	Het
Lrit2	A	G	14: 36,794,550 (GRCm39)	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,059,011 (GRCm39)	L32*	probably null	Het
Lrrtm3	A	T	10: 63,765,883 (GRCm39)	I568N	probably damaging	Het
Myom1	A	G	17: 71,343,295 (GRCm39)	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,900,742 (GRCm39)	D696G	probably damaging	Het
Nalcn	A	T	14: 123,545,792 (GRCm39)	L1073*	probably null	Het
Nid2	T	C	14: 19,853,278 (GRCm39)	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,095,621 (GRCm39)	V833A	probably benign	Het
Nyap2	T	C	1: 81,275,712 (GRCm39)	S619P	probably damaging	Het
Or10d5j	T	C	9: 39,867,878 (GRCm39)	M118V	probably damaging	Het
Or2a20	A	T	6: 43,194,086 (GRCm39)	T80S	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Or8k16	C	A	2: 85,520,644 (GRCm39)	Y290*	probably null	Het
P3h2	T	C	16: 25,923,991 (GRCm39)	N148S	probably benign	Het
P4htm	A	G	9: 108,460,081 (GRCm39)	M231T	probably damaging	Het
Pank1	T	A	19: 34,804,634 (GRCm39)	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,413,466 (GRCm39)	Y210H	probably benign	Het
Prb1b	T	C	6: 132,288,996 (GRCm39)	H276R	unknown	Het
Prl2a1	T	A	13: 27,992,535 (GRCm39)	C220S	probably damaging	Het
Psca	C	T	15: 74,587,932 (GRCm39)	Q39*	probably null	Het
Rgs20	A	T	1: 5,091,067 (GRCm39)	M121K	possibly damaging	Het
S100z	C	T	13: 95,613,883 (GRCm39)	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,195,034 (GRCm39)	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,246,088 (GRCm39)	Y214C	probably damaging	Het
Sox5	C	T	6: 143,790,570 (GRCm39)	E497K	probably benign	Het
Spata31g1	A	G	4: 42,971,519 (GRCm39)	D284G	probably benign	Het
Sptbn1	C	T	11: 30,087,551 (GRCm39)	E963K	possibly damaging	Het
Srl	T	C	16: 4,311,723 (GRCm39)	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,228,304 (GRCm39)	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,932 (GRCm39)	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,611,205 (GRCm39)	V191A	probably damaging	Het
Thap7	A	T	16: 17,346,901 (GRCm39)	I92K	probably damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Trim30c	C	T	7: 104,031,553 (GRCm39)	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,571,729 (GRCm39)	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,870,565 (GRCm39)	C104S	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp735	A	T	11: 73,580,600 (GRCm39)	Y33F	possibly damaging	Het

Other mutations in Tnfsf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02155:Tnfsf10	APN	3	27,389,380 (GRCm39)	missense	possibly damaging	0.71
IGL03071:Tnfsf10	APN	3	27,389,769 (GRCm39)	missense	probably damaging	1.00
IGL03157:Tnfsf10	APN	3	27,380,106 (GRCm39)	missense	possibly damaging	0.77
IGL03226:Tnfsf10	APN	3	27,389,597 (GRCm39)	nonsense	probably null
R4051:Tnfsf10	UTSW	3	27,389,503 (GRCm39)	missense	probably damaging	1.00
R4679:Tnfsf10	UTSW	3	27,389,728 (GRCm39)	missense	probably damaging	0.99
R5799:Tnfsf10	UTSW	3	27,389,742 (GRCm39)	missense	probably damaging	1.00
R6101:Tnfsf10	UTSW	3	27,389,698 (GRCm39)	missense	probably damaging	1.00
R6105:Tnfsf10	UTSW	3	27,389,698 (GRCm39)	missense	probably damaging	1.00
R6882:Tnfsf10	UTSW	3	27,380,182 (GRCm39)	missense	possibly damaging	0.95
R7362:Tnfsf10	UTSW	3	27,389,497 (GRCm39)	missense	probably damaging	1.00
R7873:Tnfsf10	UTSW	3	27,389,808 (GRCm39)	missense	probably benign	0.05
R8819:Tnfsf10	UTSW	3	27,389,451 (GRCm39)	missense	probably benign	0.07
R9034:Tnfsf10	UTSW	3	27,389,379 (GRCm39)	missense	probably benign	0.00
R9035:Tnfsf10	UTSW	3	27,389,379 (GRCm39)	missense	probably benign	0.00
R9125:Tnfsf10	UTSW	3	27,380,028 (GRCm39)	intron	probably benign
R9334:Tnfsf10	UTSW	3	27,389,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGACCTTCTCAGGCAC -3'
(R):5'- TAGCCTGTTCTGTTACTACAACTG -3'

Sequencing Primer
(F):5'- GCACTGCTGCTGGGCTG -3'
(R):5'- ACAACTGCTTGGAAGTCTGC -3'

Posted On

2022-02-07