Mutagenetix > Incidental Mutation

Incidental Mutation 'R0880:Tnfrsf21'

80488

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf21

Ensembl Gene

ENSMUSG00000023915

Gene Name

tumor necrosis factor receptor superfamily, member 21

Synonyms

TR7, Death receptor 6, DR6

MMRRC Submission

039047-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R0880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43327446-43400079 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 43348733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 115 (W115*)

Ref Sequence

ENSEMBL: ENSMUSP00000024708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024708]

AlphaFold

Q9EPU5

Predicted Effect

probably null
Transcript: ENSMUST00000024708
AA Change: W115*

SMART Domains

Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: W115*

Domain	Start	End	E-Value	Type
TNFR	50	88	1.58e1	SMART
TNFR	91	131	3.42e-3	SMART
TNFR	133	168	9.31e-5	SMART
TNFR	171	211	1.1e-1	SMART
transmembrane domain	351	370	N/A	INTRINSIC
DEATH	393	498	1.41e-22	SMART
low complexity region	511	526	N/A	INTRINSIC
low complexity region	562	575	N/A	INTRINSIC
PDB:2DBH\|A	576	655	5e-48	PDB

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired T cell differentiation and an enhanced Th2 response. Mice homozygous for a different knock-out allele show increased CD4+ T cell proliferation and Th2 cytokine production, and enhanced B cell proliferation, survival, and humoral responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,537,609 (GRCm39)	Y701H	possibly damaging	Het
Akap6	A	G	12: 53,186,291 (GRCm39)	D1235G	possibly damaging	Het
Arhgef18	A	G	8: 3,439,032 (GRCm39)		probably benign	Het
Astn2	A	G	4: 65,566,567 (GRCm39)	Y812H	probably damaging	Het
Bmpr1b	G	T	3: 141,576,557 (GRCm39)	S92*	probably null	Het
Camsap2	T	C	1: 136,208,708 (GRCm39)	D934G	probably benign	Het
Cdh23	A	G	10: 60,242,200 (GRCm39)	V1076A	possibly damaging	Het
Cdhr1	T	C	14: 36,802,591 (GRCm39)	D624G	possibly damaging	Het
Cfap57	A	T	4: 118,439,035 (GRCm39)	Y830*	probably null	Het
Eml3	A	G	19: 8,918,279 (GRCm39)	D790G	possibly damaging	Het
Ess2	A	G	16: 17,729,051 (GRCm39)	V40A	probably damaging	Het
Gucy2c	T	C	6: 136,686,830 (GRCm39)		probably null	Het
Helz2	A	C	2: 180,877,928 (GRCm39)	S957A	probably benign	Het
Ifi209	T	A	1: 173,472,379 (GRCm39)	S407T	probably damaging	Het
Iftap	T	A	2: 101,406,455 (GRCm39)	T158S	probably benign	Het
Muc6	T	C	7: 141,217,270 (GRCm39)	T2403A	possibly damaging	Het
Nfe2	T	C	15: 103,157,689 (GRCm39)	N101D	probably damaging	Het
Nsf	A	T	11: 103,804,198 (GRCm39)	V178D	possibly damaging	Het
P4ha3	A	G	7: 99,955,116 (GRCm39)	T324A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Rhbdf1	T	C	11: 32,163,432 (GRCm39)		probably null	Het
Samd9l	G	A	6: 3,377,064 (GRCm39)	L66F	probably damaging	Het
Speg	T	C	1: 75,381,705 (GRCm39)	F1024S	probably damaging	Het
Sspo	A	G	6: 48,452,869 (GRCm39)	N2859S	possibly damaging	Het

Other mutations in Tnfrsf21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Tnfrsf21	APN	17	43,348,837 (GRCm39)	missense	probably damaging	1.00
IGL01663:Tnfrsf21	APN	17	43,398,702 (GRCm39)	missense	probably benign	0.13
IGL01811:Tnfrsf21	APN	17	43,348,504 (GRCm39)	missense	probably benign
IGL01916:Tnfrsf21	APN	17	43,350,694 (GRCm39)	missense	probably benign	0.00
IGL01934:Tnfrsf21	APN	17	43,376,078 (GRCm39)	missense	probably benign	0.15
IGL02184:Tnfrsf21	APN	17	43,396,354 (GRCm39)	missense	probably benign	0.37
IGL02292:Tnfrsf21	APN	17	43,350,802 (GRCm39)	missense	probably benign
IGL02385:Tnfrsf21	APN	17	43,350,942 (GRCm39)	missense	probably damaging	1.00
IGL02710:Tnfrsf21	APN	17	43,398,820 (GRCm39)	missense	probably damaging	0.97
IGL03001:Tnfrsf21	APN	17	43,398,786 (GRCm39)	missense	probably damaging	0.99
IGL03003:Tnfrsf21	APN	17	43,350,834 (GRCm39)	missense	probably damaging	1.00
PIT4480001:Tnfrsf21	UTSW	17	43,348,802 (GRCm39)	missense	probably benign	0.00
R0007:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0046:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0088:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0091:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0102:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0102:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0103:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0105:Tnfrsf21	UTSW	17	43,351,082 (GRCm39)	critical splice donor site	probably null
R0105:Tnfrsf21	UTSW	17	43,351,082 (GRCm39)	critical splice donor site	probably null
R0206:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0211:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0240:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0243:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0308:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0363:Tnfrsf21	UTSW	17	43,348,768 (GRCm39)	missense	probably benign	0.01
R0456:Tnfrsf21	UTSW	17	43,348,982 (GRCm39)	missense	probably benign	0.01
R0522:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0523:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0525:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0528:Tnfrsf21	UTSW	17	43,348,505 (GRCm39)	missense	probably benign
R0543:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0549:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0550:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0699:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0724:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0734:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R0847:Tnfrsf21	UTSW	17	43,349,104 (GRCm39)	missense	probably benign
R1591:Tnfrsf21	UTSW	17	43,396,265 (GRCm39)	missense	probably benign	0.01
R2069:Tnfrsf21	UTSW	17	43,348,829 (GRCm39)	missense	possibly damaging	0.67
R2153:Tnfrsf21	UTSW	17	43,398,763 (GRCm39)	missense	probably damaging	1.00
R2323:Tnfrsf21	UTSW	17	43,396,420 (GRCm39)	nonsense	probably null
R3941:Tnfrsf21	UTSW	17	43,348,901 (GRCm39)	missense	probably damaging	1.00
R4438:Tnfrsf21	UTSW	17	43,398,733 (GRCm39)	missense	possibly damaging	0.49
R4509:Tnfrsf21	UTSW	17	43,396,279 (GRCm39)	missense	probably benign	0.00
R4510:Tnfrsf21	UTSW	17	43,375,910 (GRCm39)	missense	probably damaging	0.98
R4511:Tnfrsf21	UTSW	17	43,375,910 (GRCm39)	missense	probably damaging	0.98
R4708:Tnfrsf21	UTSW	17	43,349,123 (GRCm39)	missense	possibly damaging	0.66
R4721:Tnfrsf21	UTSW	17	43,396,395 (GRCm39)	missense	probably damaging	1.00
R4811:Tnfrsf21	UTSW	17	43,348,621 (GRCm39)	missense	probably benign	0.00
R5437:Tnfrsf21	UTSW	17	43,348,753 (GRCm39)	missense	possibly damaging	0.55
R5767:Tnfrsf21	UTSW	17	43,348,550 (GRCm39)	missense	probably damaging	0.98
R6057:Tnfrsf21	UTSW	17	43,350,606 (GRCm39)	missense	possibly damaging	0.86
R6392:Tnfrsf21	UTSW	17	43,327,979 (GRCm39)	missense	probably benign	0.00
R6860:Tnfrsf21	UTSW	17	43,327,957 (GRCm39)	missense	probably benign
R7253:Tnfrsf21	UTSW	17	43,348,558 (GRCm39)	missense	probably benign	0.00
R7288:Tnfrsf21	UTSW	17	43,348,709 (GRCm39)	missense	possibly damaging	0.86
R7643:Tnfrsf21	UTSW	17	43,348,807 (GRCm39)	missense	probably benign	0.00
R7937:Tnfrsf21	UTSW	17	43,348,816 (GRCm39)	missense	probably benign	0.01
R8098:Tnfrsf21	UTSW	17	43,350,790 (GRCm39)	missense	probably benign
R8495:Tnfrsf21	UTSW	17	43,349,128 (GRCm39)	missense	probably benign
R8865:Tnfrsf21	UTSW	17	43,396,372 (GRCm39)	missense	probably damaging	1.00
R8991:Tnfrsf21	UTSW	17	43,396,299 (GRCm39)	missense	probably benign	0.03
R9088:Tnfrsf21	UTSW	17	43,348,607 (GRCm39)	missense	probably damaging	1.00
R9150:Tnfrsf21	UTSW	17	43,398,691 (GRCm39)	missense	probably damaging	1.00
R9220:Tnfrsf21	UTSW	17	43,398,801 (GRCm39)	missense	probably damaging	1.00
V3553:Tnfrsf21	UTSW	17	43,348,822 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTGGATTCCTCAGCACCATCAC -3'
(R):5'- GCACTGCTTACAGCGCACATCTTC -3'

Sequencing Primer
(F):5'- TACCGCCATGTTGACCG -3'
(R):5'- ACAGCGCACATCTTCATTCTC -3'

Posted On

2013-11-07