Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Tnfsf10'

536708

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

044977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27371226-27393814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27380182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 82 (L82S)

Ref Sequence

ENSEMBL: ENSMUSP00000133917 (fasta)

Gene Model

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

AlphaFold

P50592

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046383
AA Change: L82S

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040271
Gene: ENSMUSG00000039304
AA Change: L82S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174840
AA Change: L82S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133917
Gene: ENSMUSG00000039304
AA Change: L82S

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: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

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
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
C2cd6	T	C	1: 59,105,318 (GRCm39)	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,484 (GRCm39)	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Epn3	C	T	11: 94,382,186 (GRCm39)	A568T	probably benign	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Or6d12	T	C	6: 116,493,395 (GRCm39)	V219A	probably benign	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,485,922 (GRCm39)	T2A	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	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
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
R9193:Tnfsf10	UTSW	3	27,371,407 (GRCm39)	missense	possibly damaging	0.90
R9334:Tnfsf10	UTSW	3	27,389,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGCTCATGATTCTCTCAATGC -3'
(R):5'- AGGGCTTTATCTGCTGTCTC -3'

Sequencing Primer
(F):5'- ATGATTCTCTCAATGCTCACCAC -3'
(R):5'- TATCAGACAGAACACCATATTGCTGG -3'

Posted On

2018-10-18