Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Tnfrsf1a'

368852

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

042420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125326686-125339446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125335047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 168 (C168Y)

Ref Sequence

ENSEMBL: ENSMUSP00000032491 (fasta)

Gene Model

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

AlphaFold

P25118

Predicted Effect

probably damaging
Transcript: ENSMUST00000032491
AA Change: C168Y

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

SMART Domains

Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341
AA Change: C168Y

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

unknown
Transcript: ENSMUST00000125880
AA Change: C84Y

SMART Domains

Protein: ENSMUSP00000121968
Gene: ENSMUSG00000030341
AA Change: C84Y

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

noncoding transcript
Transcript: ENSMUST00000134803

Predicted Effect

probably damaging
Transcript: ENSMUST00000144524
AA Change: C46Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341
AA Change: C46Y

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

Meta Mutation Damage Score

0.9447

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly 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
R1302:Tnfrsf1a	UTSW	6	125,333,879 (GRCm39)	missense	probably damaging	1.00
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
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'- ACGCTACCTGAGTGAGACAC -3'
(R):5'- GGAAAGGGCTGTCTGATGTC -3'

Sequencing Primer
(F):5'- GTGACAATCCCCTGTGAGCAC -3'
(R):5'- AAAGGGCTGTCTGATGTCTTGTAG -3'

Posted On

2016-02-04