Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Tnfrsf1a'

158421

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf1a

Ensembl Gene

ENSMUSG00000030341

Gene Name

tumor necrosis factor receptor superfamily, member 1a

Synonyms

TNFR60, TNFAR, TNF-R-I, TNFRp55, Tnfr1, TNF-alphaR1, CD120a, TNFalpha-R1, TNFRI, TNF receptor alpha chain, p55, TNF-alpha-R1, p55-R, TNF-R1, TNF-R55

MMRRC Submission

039368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1302 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

125326686-125339446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125333879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 44 (C44Y)

Ref Sequence

ENSEMBL: ENSMUSP00000032491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032491] [ENSMUST00000130257] [ENSMUST00000144524]

AlphaFold

P25118

Predicted Effect

probably damaging
Transcript: ENSMUST00000032491
AA Change: C44Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341
AA Change: C44Y

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TNFR	44	81	2.4e-7	SMART
TNFR	84	125	2.19e-10	SMART
TNFR	127	166	5.43e-6	SMART
TNFR	168	195	3.41e1	SMART
transmembrane domain	212	234	N/A	INTRINSIC
low complexity region	263	276	N/A	INTRINSIC
low complexity region	290	301	N/A	INTRINSIC
DEATH	345	441	8.04e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125880

SMART Domains

Protein: ENSMUSP00000121968
Gene: ENSMUSG00000030341

Domain	Start	End	E-Value	Type
TNFR	2	42	2.09e-7	SMART
TNFR	44	83	5.43e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000130257
AA Change: C44Y

SMART Domains

Protein: ENSMUSP00000115991
Gene: ENSMUSG00000030341
AA Change: C44Y

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:TNFR_c6	44	66	1.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134803

Predicted Effect

probably benign
Transcript: ENSMUST00000144524

SMART Domains

Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341

Domain	Start	End	E-Value	Type
TNFR	5	44	5.43e-6	SMART
TNFR	46	73	3.41e1	SMART
transmembrane domain	90	112	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	168	179	N/A	INTRINSIC
Blast:DEATH	223	295	1e-13	BLAST
SCOP:d1icha_	269	295	3e-8	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mice lacking a functional copy of this gene exhibit impaired immune function. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disrupted splenic architecture, increased adult liver weights, reduced IgG immune response, deficits in some host defense and inflammatory responses, LPS resistance, and reduced graft-vs-host disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 125,566,607 (GRCm39)	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,837,477 (GRCm39)	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,662,802 (GRCm39)	M548K	probably damaging	Het
Acat1	T	C	9: 53,500,525 (GRCm39)	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,080,752 (GRCm39)	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,322,328 (GRCm39)	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,092,403 (GRCm39)	G275S	probably damaging	Het
Ascc3	T	A	10: 50,480,890 (GRCm39)	M1K	probably null	Het
Atf7ip2	T	C	16: 10,058,472 (GRCm39)	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518 (GRCm39)	C333*	probably null	Het
Ccdc68	G	A	18: 70,072,033 (GRCm39)	V37M	probably damaging	Het
Cda	T	A	4: 138,078,502 (GRCm39)	I87F	probably damaging	Het
Chst1	A	T	2: 92,443,864 (GRCm39)	D112V	probably damaging	Het
Chtf18	T	C	17: 25,938,132 (GRCm39)	D967G	probably damaging	Het
Col5a1	A	G	2: 27,895,248 (GRCm39)	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,199,376 (GRCm39)	F12V	probably damaging	Het
Ctif	G	T	18: 75,654,749 (GRCm39)	P259Q	probably benign	Het
Duox1	A	T	2: 122,177,760 (GRCm39)	I1515F	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Flt1	A	G	5: 147,501,050 (GRCm39)	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,562,959 (GRCm39)	D516G	probably benign	Het
Gin1	A	T	1: 97,703,314 (GRCm39)	K46*	probably null	Het
Gle1	C	G	2: 29,842,564 (GRCm39)		probably null	Het
Gm11146	T	G	16: 77,398,970 (GRCm39)	I5L	unknown	Het
Gpr153	C	T	4: 152,364,400 (GRCm39)	T152M	probably damaging	Het
H1f8	A	T	6: 115,924,610 (GRCm39)	R39*	probably null	Het
Hdlbp	A	T	1: 93,351,107 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,562,861 (GRCm39)	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,407,746 (GRCm39)	P32T	probably benign	Het
Ints10	T	A	8: 69,279,964 (GRCm39)	V697E	probably damaging	Het
Krt14	A	G	11: 100,094,173 (GRCm39)	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,203,667 (GRCm39)	I388F	unknown	Het
Ldha	A	C	7: 46,497,063 (GRCm39)	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,161,267 (GRCm39)	S232P	probably benign	Het
Med1	G	T	11: 98,048,275 (GRCm39)	D840E	possibly damaging	Het
Med23	T	A	10: 24,764,320 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,099 (GRCm39)	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,351,301 (GRCm39)	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,342,371 (GRCm39)	S425P	possibly damaging	Het
Nova1	A	T	12: 46,767,581 (GRCm39)	H113Q	unknown	Het
Npc1	T	C	18: 12,328,142 (GRCm39)	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,407,233 (GRCm39)	H354R	probably benign	Het
Ogfod3	A	G	11: 121,074,300 (GRCm39)	F250L	probably damaging	Het
Pclo	A	G	5: 14,731,647 (GRCm39)	D3383G	unknown	Het
Pde1b	T	A	15: 103,436,026 (GRCm39)	D457E	probably benign	Het
Pkd1	C	G	17: 24,787,210 (GRCm39)	S581R	probably benign	Het
Pno1	T	A	11: 17,154,545 (GRCm39)	Q212L	probably benign	Het
Polr3b	C	T	10: 84,468,350 (GRCm39)	P112L	probably damaging	Het
Pomk	T	A	8: 26,473,102 (GRCm39)	I284F	probably damaging	Het
Rapgef4	A	T	2: 71,875,504 (GRCm39)	D119V	probably benign	Het
Rprm	A	T	2: 53,975,165 (GRCm39)	L51Q	probably benign	Het
Spata31e5	A	T	1: 28,815,421 (GRCm39)	D870E	probably benign	Het
Taok3	A	C	5: 117,337,108 (GRCm39)	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,730,963 (GRCm39)	S830T	probably benign	Het
Ubr5	A	T	15: 38,041,723 (GRCm39)	D235E	possibly damaging	Het
Vapb	C	A	2: 173,613,330 (GRCm39)	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,387,465 (GRCm39)	I700V	probably damaging	Het
Wwc1	G	A	11: 35,734,984 (GRCm39)	R964W	probably damaging	Het
Zfp644	A	T	5: 106,782,765 (GRCm39)	V1203D	probably damaging	Het

Other mutations in Tnfrsf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Tnfrsf1a	APN	6	125,333,827 (GRCm39)	missense	probably damaging	1.00
IGL02468:Tnfrsf1a	APN	6	125,334,824 (GRCm39)	missense	probably benign	0.06
IGL02588:Tnfrsf1a	APN	6	125,337,729 (GRCm39)	missense	probably benign	0.44
R2189:Tnfrsf1a	UTSW	6	125,334,768 (GRCm39)	missense	probably benign	0.42
R4559:Tnfrsf1a	UTSW	6	125,337,729 (GRCm39)	missense	probably benign	0.44
R4794:Tnfrsf1a	UTSW	6	125,335,047 (GRCm39)	missense	probably damaging	1.00
R5039:Tnfrsf1a	UTSW	6	125,337,675 (GRCm39)	missense	possibly damaging	0.67
R5364:Tnfrsf1a	UTSW	6	125,334,356 (GRCm39)	missense	possibly damaging	0.87
R5792:Tnfrsf1a	UTSW	6	125,335,040 (GRCm39)	missense	probably damaging	1.00
R6742:Tnfrsf1a	UTSW	6	125,333,911 (GRCm39)	missense	probably damaging	0.99
R7018:Tnfrsf1a	UTSW	6	125,333,914 (GRCm39)	missense	probably damaging	1.00
R7128:Tnfrsf1a	UTSW	6	125,338,499 (GRCm39)	missense	probably benign	0.11
R7192:Tnfrsf1a	UTSW	6	125,338,559 (GRCm39)	missense	unknown
R7715:Tnfrsf1a	UTSW	6	125,338,377 (GRCm39)	missense	possibly damaging	0.65
R8745:Tnfrsf1a	UTSW	6	125,338,745 (GRCm39)	missense	probably damaging	0.99
R8755:Tnfrsf1a	UTSW	6	125,334,768 (GRCm39)	missense	probably benign	0.42
R8856:Tnfrsf1a	UTSW	6	125,334,688 (GRCm39)	missense	possibly damaging	0.85
R9005:Tnfrsf1a	UTSW	6	125,333,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTTGTTGCTACCTCTAAGGCCCC -3'
(R):5'- TCGGACAGTCACTCACCAAGTAGG -3'

Sequencing Primer
(F):5'- TCTAAGGCCCCACCCCTG -3'
(R):5'- gaggcagaggcaggcag -3'

Posted On

2014-02-18