Mutagenetix > Incidental Mutation

Incidental Mutation 'R6111:Tnfrsf10b'

484867

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf10b

Ensembl Gene

ENSMUSG00000022074

Gene Name

tumor necrosis factor receptor superfamily, member 10b

Synonyms

Killer/Dr5, DR5, Trail Receptor, Ly98, KILLER, TRICK2A, TRAIL-R2, TRICKB, TRAILR2, TRICK2B

MMRRC Submission

044260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R6111 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

70004921-70021860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70020007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 380 (C380S)

Ref Sequence

ENSEMBL: ENSMUSP00000022663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022663] [ENSMUST00000022665]

AlphaFold

Q9QZM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022663
AA Change: C380S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022663
Gene: ENSMUSG00000022074
AA Change: C380S

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
TNFR	88	129	3.17e-7	SMART
TNFR	131	169	4.73e-6	SMART
transmembrane domain	182	201	N/A	INTRINSIC
low complexity region	236	247	N/A	INTRINSIC
DEATH	262	356	7e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022665

SMART Domains

Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075

Domain	Start	End	E-Value	Type
RHO	17	210	4.86e-36	SMART
low complexity region	227	249	N/A	INTRINSIC
BTB	266	472	5.27e-15	SMART
BTB	500	598	2.78e-14	SMART
low complexity region	706	726	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224533

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (57/58)

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 TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit enhanced innate immune responses, including increased clearance of cytomegalovirus and increased levels of IL-12, IFN-alpha and IFN-gamma after viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,476,021 (GRCm39)	E1110G	possibly damaging	Het
Abcd4	G	A	12: 84,661,888 (GRCm39)	T79I	probably damaging	Het
Acd	A	G	8: 106,424,919 (GRCm39)	M407T	probably benign	Het
Adcy2	T	A	13: 68,877,360 (GRCm39)	H460L	probably damaging	Het
Atad2	G	A	15: 57,971,487 (GRCm39)	H752Y	probably benign	Het
Bmal2	T	C	6: 146,722,097 (GRCm39)	F223L	probably benign	Het
Camsap2	A	G	1: 136,209,036 (GRCm39)	S819P	probably benign	Het
Col24a1	C	A	3: 145,019,815 (GRCm39)	T62K	probably damaging	Het
Cpne6	G	A	14: 55,752,091 (GRCm39)	V283M	probably benign	Het
D630003M21Rik	A	G	2: 158,055,368 (GRCm39)	S590P	probably damaging	Het
Daam1	T	A	12: 71,989,038 (GRCm39)	M146K	unknown	Het
Dclk2	A	G	3: 86,712,968 (GRCm39)	Y495H	probably benign	Het
Ddx4	A	T	13: 112,757,766 (GRCm39)	C330*	probably null	Het
Dlec1	T	C	9: 118,931,692 (GRCm39)	L37P	possibly damaging	Het
Dock2	G	A	11: 34,599,614 (GRCm39)	P322S	probably damaging	Het
Espl1	A	G	15: 102,208,323 (GRCm39)	E443G	probably damaging	Het
Eya4	T	A	10: 23,015,953 (GRCm39)	D338V	possibly damaging	Het
Fcmr	A	G	1: 130,805,566 (GRCm39)	I267V	probably damaging	Het
Gfra3	T	A	18: 34,823,927 (GRCm39)	H349L	probably damaging	Het
Gm25747	A	G	12: 113,392,703 (GRCm39)		probably benign	Het
Gria4	G	A	9: 4,502,430 (GRCm39)	R368C	probably damaging	Het
H2-Q5	A	T	17: 35,613,885 (GRCm39)	I145F	possibly damaging	Het
Hace1	A	T	10: 45,465,606 (GRCm39)	K54I	possibly damaging	Het
Ift122	T	A	6: 115,852,247 (GRCm39)	I79N	probably damaging	Het
Ino80b	A	G	6: 83,101,347 (GRCm39)	V121A	probably damaging	Het
Kcnq1	A	G	7: 142,661,474 (GRCm39)	T63A	probably benign	Het
Map4k4	C	A	1: 40,050,822 (GRCm39)	Q762K	probably benign	Het
Mios	G	A	6: 8,214,836 (GRCm39)	A11T	probably benign	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Notch2	T	C	3: 98,053,609 (GRCm39)	S2091P	probably benign	Het
Nudt19	T	A	7: 35,254,952 (GRCm39)	D93V	probably benign	Het
Or8b12b	T	C	9: 37,684,228 (GRCm39)	I91T	probably damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
P3h1	C	T	4: 119,098,329 (GRCm39)	R369*	probably null	Het
Pcdhb3	A	T	18: 37,435,242 (GRCm39)	I403L	probably benign	Het
Pigo	T	C	4: 43,019,724 (GRCm39)	D935G	probably benign	Het
Plpp1	A	G	13: 113,003,451 (GRCm39)	H224R	probably damaging	Het
Rai1	T	A	11: 60,078,732 (GRCm39)	M932K	probably damaging	Het
Rexo2	A	T	9: 48,384,412 (GRCm39)	F122L	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,546,153 (GRCm39)	T77A	unknown	Het
Skint5	T	C	4: 113,562,845 (GRCm39)	T786A	unknown	Het
Smok3c	C	A	5: 138,063,365 (GRCm39)	P284Q	probably damaging	Het
Spg11	A	G	2: 121,923,963 (GRCm39)	V786A	probably damaging	Het
Tmem273	T	C	14: 32,528,755 (GRCm39)	I40T	possibly damaging	Het
Tsen54	T	C	11: 115,710,956 (GRCm39)	V176A	possibly damaging	Het
Ttll4	A	T	1: 74,736,698 (GRCm39)	K1141M	possibly damaging	Het
Ttpa	A	T	4: 20,014,772 (GRCm39)	I116F	probably damaging	Het
Tubgcp6	T	C	15: 88,985,123 (GRCm39)	D1655G	possibly damaging	Het
Usp38	A	G	8: 81,740,551 (GRCm39)	V172A	probably damaging	Het
Vmn2r73	A	G	7: 85,520,997 (GRCm39)	S324P	probably benign	Het
Wdr72	T	C	9: 74,117,607 (GRCm39)	M773T	probably benign	Het
Xirp2	T	A	2: 67,342,161 (GRCm39)	H1467Q	possibly damaging	Het
Zdhhc8	G	T	16: 18,042,762 (GRCm39)	S479R	probably damaging	Het
Zfp423	A	G	8: 88,509,315 (GRCm39)	V322A	probably damaging	Het
Zfp87	T	G	13: 74,520,504 (GRCm39)	E191D	probably benign	Het
Zfp933	T	C	4: 147,913,217 (GRCm39)	T14A	probably damaging	Het

Other mutations in Tnfrsf10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02525:Tnfrsf10b	APN	14	70,019,825 (GRCm39)	missense	probably damaging	1.00
R0650:Tnfrsf10b	UTSW	14	70,013,625 (GRCm39)	missense	probably damaging	0.98
R2102:Tnfrsf10b	UTSW	14	70,013,546 (GRCm39)	missense	probably benign	0.42
R3870:Tnfrsf10b	UTSW	14	70,010,905 (GRCm39)	missense	probably benign	0.03
R4840:Tnfrsf10b	UTSW	14	70,013,608 (GRCm39)	missense	probably damaging	0.98
R6351:Tnfrsf10b	UTSW	14	70,010,850 (GRCm39)	missense	probably damaging	1.00
R7853:Tnfrsf10b	UTSW	14	70,005,239 (GRCm39)	missense	unknown
R8857:Tnfrsf10b	UTSW	14	70,012,543 (GRCm39)	missense	probably benign
R9001:Tnfrsf10b	UTSW	14	70,015,250 (GRCm39)	missense	possibly damaging	0.90
R9410:Tnfrsf10b	UTSW	14	70,010,849 (GRCm39)	missense	probably damaging	1.00
R9447:Tnfrsf10b	UTSW	14	70,013,608 (GRCm39)	missense	probably damaging	0.98
R9507:Tnfrsf10b	UTSW	14	70,015,221 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCCTGTACCAAATGCTGCTC -3'
(R):5'- TCTCAGAGGTTCTGTGTTCAACTTC -3'

Sequencing Primer
(F):5'- CTGTACCAAATGCTGCTCAAGTGG -3'
(R):5'- AGGTTCTGTGTTCAACTTCTAATAAG -3'

Posted On

2017-08-16