Mutagenetix > Incidental Mutations

Incidental Mutation 'R7128:Tnfrsf1a'

552456

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf1a

Ensembl Gene

ENSMUSG00000030341

Gene Name

tumor necrosis factor receptor superfamily, member 1a

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125349362-125362484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125361536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 337 (T337S)

Ref Sequence

ENSEMBL: ENSMUSP00000032491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032491] [ENSMUST00000042647] [ENSMUST00000130257] [ENSMUST00000144524]

AlphaFold

P25118

Predicted Effect

probably benign
Transcript: ENSMUST00000032491
AA Change: T337S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341
AA Change: T337S

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: ENSMUST00000042647

SMART Domains

Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167

Domain	Start	End	E-Value	Type
RhoGEF	165	352	1.5e-44	SMART
PH	410	511	8.99e-7	SMART
low complexity region	535	557	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	719	731	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000130257

SMART Domains

Protein: ENSMUSP00000115991
Gene: ENSMUSG00000030341

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144524
AA Change: T215S

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341
AA Change: T215S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,481	T1871A	possibly damaging	Het
Adgb	T	C	10: 10,472,241	D25G	probably benign	Het
Ak9	T	C	10: 41,424,717	V1641A	unknown	Het
Akap2	T	C	4: 57,855,816	S382P	probably benign	Het
Akirin2	T	C	4: 34,562,435	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,563,379	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,419,550	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,645,747	R93*	probably null	Het
AW822073	T	C	10: 58,223,657	Q425R	unknown	Het
Catsper3	A	G	13: 55,798,849	I120V	probably benign	Het
Cavin2	A	G	1: 51,289,420	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,684,991	F39Y	probably damaging	Het
Chfr	T	C	5: 110,143,636	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Defb4	T	A	8: 19,201,204	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,527,485	T619A	probably benign	Het
Emc3	A	G	6: 113,517,920	L179P	probably damaging	Het
Eno3	G	C	11: 70,658,604	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,970,722	V43M	probably damaging	Het
Fam159a	G	T	4: 108,367,903	T154K	probably benign	Het
Fbxo30	T	A	10: 11,290,116	L194*	probably null	Het
Galnt14	T	C	17: 73,545,101	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601	I51T	probably benign	Het
Gm1527	C	T	3: 28,915,311	S270F	possibly damaging	Het
Gm3336	A	G	8: 70,718,554	M1V	probably null	Het
Gm4744	T	C	6: 40,950,376	D15G		Het
Gm4763	C	T	7: 24,725,999		probably null	Het
Gm4924	G	A	10: 82,378,699	C777Y	unknown	Het
Gm5901	G	A	7: 105,378,201	G306S	probably damaging	Het
Gon4l	T	A	3: 88,895,692	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,310,457	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,328,905	E1285G	probably benign	Het
Irx6	T	C	8: 92,677,366	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,272,088	Y117H	probably benign	Het
Itln1	C	A	1: 171,530,575	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,738,523	S242P	probably benign	Het
Lrrk2	A	G	15: 91,801,885	H2143R	probably benign	Het
Lynx1	G	A	15: 74,751,549	R50*	probably null	Het
Map10	A	G	8: 125,671,853	I662V	probably benign	Het
Mlxipl	T	C	5: 135,133,851	L691P	probably damaging	Het
Muc16	A	G	9: 18,643,004	S3998P	unknown	Het
Nalcn	A	T	14: 123,594,502	V120E	probably damaging	Het
Nfat5	T	C	8: 107,358,691	S539P	probably benign	Het
Olfml3	T	C	3: 103,737,168	M62V	probably benign	Het
Orm3	T	C	4: 63,357,825	V158A	probably benign	Het
Pced1b	A	T	15: 97,384,598	K173*	probably null	Het
Pdzd7	T	C	19: 45,027,949	D911G	probably damaging	Het
Pkn3	A	G	2: 30,083,315	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,797,554	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,731,403	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,624,537	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,927,984	N30S	probably benign	Het
Slfn3	T	A	11: 83,214,895	C573S	probably benign	Het
Smc6	A	G	12: 11,301,631	E887G	probably damaging	Het
Sp140	A	T	1: 85,620,125	D191V	possibly damaging	Het
Srf	C	T	17: 46,555,446	S128N	possibly damaging	Het
Sult6b1	T	C	17: 78,894,641	D144G	probably damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Syt10	A	T	15: 89,814,111	D343E	probably damaging	Het
Tgtp2	G	A	11: 49,059,308	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,430,634		probably benign	Het
Tns1	A	T	1: 73,995,304	I144N		Het
Trim11	A	G	11: 58,978,277	E13G	probably damaging	Het
Trpm6	A	T	19: 18,811,773	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,746,088	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,843,951	N169K	probably damaging	Het
Vmn2r60	C	T	7: 42,195,112	T633I	probably damaging	Het
Wt1	T	C	2: 105,127,325	Y177H	probably benign	Het

Other mutations in Tnfrsf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Tnfrsf1a	APN	6	125356864	missense	probably damaging	1.00
IGL02468:Tnfrsf1a	APN	6	125357861	missense	probably benign	0.06
IGL02588:Tnfrsf1a	APN	6	125360766	missense	probably benign	0.44
R1302:Tnfrsf1a	UTSW	6	125356916	missense	probably damaging	1.00
R2189:Tnfrsf1a	UTSW	6	125357805	missense	probably benign	0.42
R4559:Tnfrsf1a	UTSW	6	125360766	missense	probably benign	0.44
R4794:Tnfrsf1a	UTSW	6	125358084	missense	probably damaging	1.00
R5039:Tnfrsf1a	UTSW	6	125360712	missense	possibly damaging	0.67
R5364:Tnfrsf1a	UTSW	6	125357393	missense	possibly damaging	0.87
R5792:Tnfrsf1a	UTSW	6	125358077	missense	probably damaging	1.00
R6742:Tnfrsf1a	UTSW	6	125356948	missense	probably damaging	0.99
R7018:Tnfrsf1a	UTSW	6	125356951	missense	probably damaging	1.00
R7192:Tnfrsf1a	UTSW	6	125361596	missense	unknown
R7715:Tnfrsf1a	UTSW	6	125361414	missense	possibly damaging	0.65
R8745:Tnfrsf1a	UTSW	6	125361782	missense	probably damaging	0.99
R8755:Tnfrsf1a	UTSW	6	125357805	missense	probably benign	0.42
R8856:Tnfrsf1a	UTSW	6	125357725	missense	possibly damaging	0.85
R9005:Tnfrsf1a	UTSW	6	125356915	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAAGCCCCTAACTCCAG -3'
(R):5'- CAGCATACAGAATCGCAAGGTC -3'

Sequencing Primer
(F):5'- CGGCTTCAACCCCACTCTG -3'
(R):5'- TCTGCATCTGGGGACAAGGAC -3'

Posted On

2019-05-15