Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02710:Tnfrsf21'

304534

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: 0.152) question?

Stock #

IGL02710

Quality Score

Status

Chromosome

Chromosomal Location

43327446-43400079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43398820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 642 (T642I)

Ref Sequence

ENSEMBL: ENSMUSP00000024708 (fasta)

Gene Model

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

AlphaFold

Q9EPU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024708
AA Change: T642I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024708
Gene: ENSMUSG00000023915
AA Change: T642I

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,373,928 (GRCm39)		probably null	Het
Col18a1	G	A	10: 76,949,146 (GRCm39)	A122V	possibly damaging	Het
Dnai3	A	T	3: 145,753,903 (GRCm39)	I719N	possibly damaging	Het
Dtnb	T	A	12: 3,698,380 (GRCm39)	H289Q	possibly damaging	Het
Fat4	A	T	3: 38,944,744 (GRCm39)	K1212N	probably damaging	Het
Gm10392	T	C	11: 77,409,294 (GRCm39)	H44R	possibly damaging	Het
Herc2	G	A	7: 55,787,562 (GRCm39)	A1740T	possibly damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Knl1	A	C	2: 118,901,411 (GRCm39)	E1037D	probably damaging	Het
Lsg1	A	T	16: 30,390,292 (GRCm39)	D274E	probably benign	Het
Msantd3	A	G	4: 48,552,686 (GRCm39)	K92E	probably damaging	Het
Nap1l4	G	A	7: 143,077,998 (GRCm39)	T312I	probably benign	Het
Nlrp3	A	G	11: 59,456,802 (GRCm39)	E988G	probably damaging	Het
Or11g2	C	T	14: 50,856,255 (GRCm39)	T192I	probably benign	Het
Palm3	C	T	8: 84,754,941 (GRCm39)	T151I	possibly damaging	Het
Pde1b	T	C	15: 103,430,484 (GRCm39)	W144R	probably damaging	Het
Piezo2	A	G	18: 63,207,730 (GRCm39)	L1427P	probably damaging	Het
Rasal1	A	T	5: 120,804,496 (GRCm39)	H456L	possibly damaging	Het
Sec16a	C	T	2: 26,320,142 (GRCm39)	G1432D	possibly damaging	Het
Shc1	A	G	3: 89,331,917 (GRCm39)		probably null	Het
Skint5	T	A	4: 113,335,156 (GRCm39)	I1452F	unknown	Het
Slc35b4	C	A	6: 34,135,476 (GRCm39)	V279L	probably benign	Het
Snx9	T	C	17: 5,958,873 (GRCm39)	V283A	probably damaging	Het
Stra6l	T	C	4: 45,882,728 (GRCm39)	F480L	possibly damaging	Het
Stt3a	A	G	9: 36,670,041 (GRCm39)	Y132H	probably damaging	Het
Sv2c	T	A	13: 96,125,649 (GRCm39)	I363F	probably damaging	Het
Tubgcp2	G	A	7: 139,584,897 (GRCm39)		probably benign	Het
Usp47	A	G	7: 111,692,132 (GRCm39)	N845D	probably benign	Het
Wdr20	A	T	12: 110,759,544 (GRCm39)		probably benign	Het
Zfp518b	A	G	5: 38,830,061 (GRCm39)	V648A	probably damaging	Het
Zfp687	A	T	3: 94,916,084 (GRCm39)	S927T	probably benign	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
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

2015-04-16