Mutagenetix > Incidental Mutation

Incidental Mutation 'R2867:Tradd'

253347

Institutional Source

Beutler Lab

Gene Symbol

Tradd

Ensembl Gene

ENSMUSG00000031887

Gene Name

TNFRSF1A-associated via death domain

Synonyms

9130005N23Rik

MMRRC Submission

040456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R2867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105985207-105991226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105986145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 182 (F182L)

Ref Sequence

ENSEMBL: ENSMUSP00000034359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034359] [ENSMUST00000093217] [ENSMUST00000136822] [ENSMUST00000144762] [ENSMUST00000161745]

AlphaFold

Q3U0V2

Predicted Effect

probably benign
Transcript: ENSMUST00000034359
AA Change: F182L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034359
Gene: ENSMUSG00000031887
AA Change: F182L

Domain	Start	End	E-Value	Type
Pfam:TRADD_N	51	161	2.9e-49	PFAM
DEATH	203	303	1.14e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093217

SMART Domains

Protein: ENSMUSP00000133023
Gene: ENSMUSG00000069920

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
Pfam:Galactosyl_T	132	331	1e-40	PFAM
Pfam:Fringe	212	335	3.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136239

Predicted Effect

probably benign
Transcript: ENSMUST00000136822

SMART Domains

Protein: ENSMUSP00000130840
Gene: ENSMUSG00000069920

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
Pfam:Galactosyl_T	132	331	1e-40	PFAM
Pfam:Fringe	212	335	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144762

SMART Domains

Protein: ENSMUSP00000119174
Gene: ENSMUSG00000031887

Domain	Start	End	E-Value	Type
PDB:1F2H\|A	1	50	7e-23	PDB
SCOP:d1f3va_	8	50	4e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147670

SMART Domains

Protein: ENSMUSP00000115535
Gene: ENSMUSG00000031887

Domain	Start	End	E-Value	Type
PDB:1F2H\|A	1	56	6e-23	PDB
SCOP:d1f3va_	8	50	1e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161745

SMART Domains

Protein: ENSMUSP00000125145
Gene: ENSMUSG00000069920

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.8%
20x: 82.0%

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 death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mutations can cause resistance to toxicity induced by TNF, LPS and poly(I:C), resistance to galactosamine and TNF-induced hepatitis, increased susceptibility to bacterial infection, and impaired formation of follicular dendritic cell networksand germinal centers in spleen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,595,378 (GRCm39)		probably null	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,478 (GRCm39)	M1R	probably null	Het
Cpz	T	C	5: 35,659,705 (GRCm39)	K647E	probably benign	Het
Cyp7a1	T	C	4: 6,272,493 (GRCm39)	E240G	probably damaging	Het
Dnaaf11	A	T	15: 66,310,257 (GRCm39)	L337*	probably null	Het
Epha6	T	C	16: 59,780,659 (GRCm39)		probably null	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,710,637 (GRCm39)	F970L	probably damaging	Het
Kcnma1	A	T	14: 23,423,275 (GRCm39)	N682K	probably benign	Het
Kif20b	A	G	19: 34,917,528 (GRCm39)	E631G	probably damaging	Het
Lctl	T	C	9: 64,045,150 (GRCm39)	S550P	probably benign	Het
Mapk10	C	T	5: 103,186,548 (GRCm39)	D25N	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp1	T	C	8: 87,588,033 (GRCm39)	N302D	probably benign	Het
Pcdh7	A	T	5: 57,879,236 (GRCm39)	K930N	probably damaging	Het
Pramel16	T	A	4: 143,675,456 (GRCm39)	I457L	probably benign	Het
Proca1	A	T	11: 78,095,806 (GRCm39)	N146I	probably damaging	Het
Ryr2	A	T	13: 11,776,235 (GRCm39)	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,725,209 (GRCm39)	T216A	probably benign	Het
Thnsl2	C	A	6: 71,108,945 (GRCm39)	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,501,259 (GRCm39)	N59D	possibly damaging	Het
Togaram2	T	C	17: 72,016,592 (GRCm39)	S649P	probably benign	Het
Trav17	A	T	14: 54,044,383 (GRCm39)	Y50F	probably benign	Het
Usp37	A	T	1: 74,489,691 (GRCm39)	D808E	probably damaging	Het
Usp42	G	A	5: 143,701,219 (GRCm39)	P935S	possibly damaging	Het
Vmn2r23	A	G	6: 123,690,123 (GRCm39)	D333G	possibly damaging	Het
Zfpm2	C	T	15: 40,962,785 (GRCm39)	A149V	probably benign	Het

Other mutations in Tradd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Tradd	APN	8	105,986,418 (GRCm39)	missense	probably damaging	0.99
R0240:Tradd	UTSW	8	105,985,924 (GRCm39)	missense	possibly damaging	0.53
R0709:Tradd	UTSW	8	105,987,276 (GRCm39)	missense	possibly damaging	0.82
R0751:Tradd	UTSW	8	105,986,403 (GRCm39)	missense	probably damaging	0.96
R1870:Tradd	UTSW	8	105,985,792 (GRCm39)	missense	possibly damaging	0.77
R2867:Tradd	UTSW	8	105,986,145 (GRCm39)	missense	probably benign
R3880:Tradd	UTSW	8	105,987,287 (GRCm39)	missense	possibly damaging	0.82
R4978:Tradd	UTSW	8	105,985,900 (GRCm39)	missense	probably benign	0.32
R5345:Tradd	UTSW	8	105,986,556 (GRCm39)	missense	probably damaging	0.99
R5507:Tradd	UTSW	8	105,986,257 (GRCm39)	missense	possibly damaging	0.94
R5997:Tradd	UTSW	8	105,987,277 (GRCm39)	missense	possibly damaging	0.66
R7461:Tradd	UTSW	8	105,987,196 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CCGGTTCACTGCAGAAGAAGTG -3'
(R):5'- TCTTAGCCCAGAAGGTGCTG -3'

Sequencing Primer
(F):5'- TGAGTGAGCACCGGTTCC -3'
(R):5'- GCTGCCGTCCGTAGTTAG -3'

Posted On

2014-12-04