Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01811:Tnfrsf21'

154263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnfrsf21

Ensembl Gene

ENSMUSG00000023915

Gene Name

tumor necrosis factor receptor superfamily, member 21

Synonyms

TR7, Death receptor 6, DR6

Accession Numbers

Essential gene?

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

Stock #

IGL01811

Quality Score

Status

Chromosome

Chromosomal Location

43327446-43400079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43348504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 39 (I39L)

Ref Sequence

ENSEMBL: ENSMUSP00000024708 (fasta)

Gene Model

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

AlphaFold

Q9EPU5

Predicted Effect

probably benign
Transcript: ENSMUST00000024708
AA Change: I39L

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

SMART Domains

Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: I39L

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

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	G	A	13: 95,488,080 (GRCm39)	T689I	probably benign	Het
Ap1m2	A	G	9: 21,210,600 (GRCm39)	V343A	probably benign	Het
Ccbe1	A	G	18: 66,199,798 (GRCm39)		probably null	Het
Cd1d1	T	C	3: 86,903,895 (GRCm39)	I204V	possibly damaging	Het
Cpeb3	G	A	19: 37,022,008 (GRCm39)	R613C	probably damaging	Het
Dock9	A	T	14: 121,796,440 (GRCm39)	F1821I	probably damaging	Het
Dst	A	T	1: 34,203,173 (GRCm39)	Q694L	probably damaging	Het
Kansl1l	A	G	1: 66,762,462 (GRCm39)	S802P	probably damaging	Het
Meltf	T	C	16: 31,707,803 (GRCm39)	C397R	probably damaging	Het
Myo1d	A	T	11: 80,583,823 (GRCm39)	V63D	probably damaging	Het
Or4c101	C	T	2: 88,390,409 (GRCm39)	L199F	probably benign	Het
Pycr1	T	A	11: 120,532,092 (GRCm39)	S225C	probably benign	Het
Tbc1d9	T	A	8: 83,960,307 (GRCm39)	C187S	probably damaging	Het
Tnn	T	C	1: 159,934,705 (GRCm39)	D972G	probably 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
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
R0880:Tnfrsf21	UTSW	17	43,348,733 (GRCm39)	nonsense	probably null
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

Posted On

2014-02-04