Mutagenetix > Incidental Mutation

Incidental Mutation 'R5452:Tnfrsf8'

432563

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf8

Ensembl Gene

ENSMUSG00000028602

Gene Name

tumor necrosis factor receptor superfamily, member 8

Synonyms

CD30

MMRRC Submission

042848-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5452 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144993707-145041734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145019214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 207 (K207M)

Ref Sequence

ENSEMBL: ENSMUSP00000118714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030339] [ENSMUST00000123027]

AlphaFold

Q60846

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030339
AA Change: K207M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: K207M

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
TNFR	29	65	2.33e0	SMART
TNFR	69	105	5.51e-7	SMART
TNFR	107	146	2.87e-5	SMART
low complexity region	149	161	N/A	INTRINSIC
transmembrane domain	288	310	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123027
AA Change: K207M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: K207M

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
TNFR	29	65	2.33e0	SMART
TNFR	69	105	5.51e-7	SMART
TNFR	107	146	2.87e-5	SMART
low complexity region	149	161	N/A	INTRINSIC
low complexity region	293	313	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display an enlarged thymus, impaired activation-induced death of double-positive thymocytes after CD3 cross-linking, and decreased susceptibility to graft versus host disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	T	8: 41,248,801 (GRCm39)	I304F	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Akr1c6	A	G	13: 4,504,544 (GRCm39)	R132G	probably benign	Het
Ash1l	T	A	3: 88,892,183 (GRCm39)	M1354K	possibly damaging	Het
C6	T	C	15: 4,844,311 (GRCm39)	I911T	possibly damaging	Het
Calm2	T	C	17: 87,743,150 (GRCm39)		probably null	Het
Ccdc80	G	A	16: 44,938,528 (GRCm39)	R745Q	probably damaging	Het
Celsr3	T	C	9: 108,721,233 (GRCm39)	I2685T	possibly damaging	Het
Chkb	T	C	15: 89,313,788 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,943,011 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,415,209 (GRCm39)	Y175C	probably damaging	Het
Dnajc13	A	G	9: 104,069,313 (GRCm39)	S1154P	probably benign	Het
Ephb4	T	C	5: 137,359,404 (GRCm39)	S325P	probably damaging	Het
Fzd9	C	T	5: 135,279,714 (GRCm39)	R57H	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm9949	A	G	18: 62,313,587 (GRCm39)		probably benign	Het
Gnb4	A	T	3: 32,643,994 (GRCm39)	M188K	probably benign	Het
Hr	G	T	14: 70,794,067 (GRCm39)	G109V	probably damaging	Het
Lrp1b	A	G	2: 40,812,328 (GRCm39)	S2426P	probably damaging	Het
Map2k4	A	G	11: 65,610,413 (GRCm39)	W88R	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Moxd2	C	T	6: 40,859,048 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,556 (GRCm39)	I64V	probably benign	Het
Mtrex	T	C	13: 113,049,715 (GRCm39)	S232G	probably null	Het
Or5p68	A	C	7: 107,945,312 (GRCm39)	I292S	probably damaging	Het
Padi2	T	C	4: 140,659,382 (GRCm39)	F229S	probably benign	Het
Pappa2	T	C	1: 158,666,172 (GRCm39)	N1136S	probably benign	Het
Pcdhb1	A	T	18: 37,398,811 (GRCm39)	N254I	possibly damaging	Het
Plcb2	A	G	2: 118,548,727 (GRCm39)	Y400H	probably damaging	Het
Plce1	A	C	19: 38,608,926 (GRCm39)	T412P	probably benign	Het
Prg4	T	C	1: 150,331,519 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,586,501 (GRCm39)	N2510S	possibly damaging	Het
Psme4	T	A	11: 30,741,168 (GRCm39)	S107T	probably benign	Het
Resf1	C	A	6: 149,230,611 (GRCm39)	S1219*	probably null	Het
Rint1	G	T	5: 23,999,363 (GRCm39)	A51S	probably benign	Het
Rsad1	T	A	11: 94,434,515 (GRCm39)	R306S	probably damaging	Het
Sema3c	T	G	5: 17,922,068 (GRCm39)		probably null	Het
Sirt3	G	A	7: 140,444,928 (GRCm39)	T290I	probably damaging	Het
Spam1	G	A	6: 24,800,731 (GRCm39)	G490D	probably benign	Het
Speer4f2	C	T	5: 17,581,498 (GRCm39)	R147W	possibly damaging	Het
Sppl2c	A	T	11: 104,078,126 (GRCm39)	I309L	probably benign	Het
Srxn1	G	A	2: 151,947,799 (GRCm39)	V66M	probably damaging	Het
St3gal4	C	T	9: 34,964,752 (GRCm39)	R152H	probably damaging	Het
Sv2c	A	T	13: 96,114,591 (GRCm39)	F532I	probably damaging	Het
Tacc1	C	A	8: 25,654,431 (GRCm39)	K705N	probably null	Het
Tekt3	G	T	11: 62,985,619 (GRCm39)	S475I	probably damaging	Het
Tjap1	T	C	17: 46,571,101 (GRCm39)	T139A	probably damaging	Het
Tnn	T	C	1: 159,937,831 (GRCm39)	T965A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt2a	A	G	16: 18,068,814 (GRCm39)	H270R	probably damaging	Het
Ttc21a	T	C	9: 119,780,037 (GRCm39)	L448P	probably benign	Het
Ttll4	C	A	1: 74,718,480 (GRCm39)	N110K	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Tut7	A	G	13: 59,948,471 (GRCm39)	Y215H	probably damaging	Het
Ubr1	A	G	2: 120,698,783 (GRCm39)	Y1595H	possibly damaging	Het
Unc45a	G	A	7: 79,978,787 (GRCm39)	P621S	probably damaging	Het
Xrn2	A	T	2: 146,866,633 (GRCm39)		probably null	Het

Other mutations in Tnfrsf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Tnfrsf8	APN	4	145,019,161 (GRCm39)	splice site	probably null
IGL02815:Tnfrsf8	APN	4	145,025,348 (GRCm39)	missense	possibly damaging	0.68
IGL02819:Tnfrsf8	APN	4	144,995,703 (GRCm39)	missense	probably damaging	1.00
IGL03033:Tnfrsf8	APN	4	145,019,219 (GRCm39)	missense	possibly damaging	0.86
IGL03105:Tnfrsf8	APN	4	145,025,354 (GRCm39)	missense	probably damaging	1.00
IGL02837:Tnfrsf8	UTSW	4	144,995,568 (GRCm39)	missense	probably benign	0.10
R0114:Tnfrsf8	UTSW	4	145,014,617 (GRCm39)	missense	possibly damaging	0.95
R0326:Tnfrsf8	UTSW	4	145,015,029 (GRCm39)	missense	possibly damaging	0.64
R0594:Tnfrsf8	UTSW	4	145,023,431 (GRCm39)	missense	probably damaging	1.00
R0639:Tnfrsf8	UTSW	4	145,014,597 (GRCm39)	missense	probably benign	0.24
R0826:Tnfrsf8	UTSW	4	145,011,708 (GRCm39)	splice site	probably benign
R3056:Tnfrsf8	UTSW	4	145,011,895 (GRCm39)	critical splice donor site	probably null
R4700:Tnfrsf8	UTSW	4	145,029,692 (GRCm39)	missense	probably damaging	0.99
R4765:Tnfrsf8	UTSW	4	145,023,447 (GRCm39)	missense	probably benign	0.19
R5149:Tnfrsf8	UTSW	4	145,029,675 (GRCm39)	missense	possibly damaging	0.53
R5632:Tnfrsf8	UTSW	4	145,019,203 (GRCm39)	missense	possibly damaging	0.68
R5673:Tnfrsf8	UTSW	4	145,011,905 (GRCm39)	missense	probably benign	0.14
R5877:Tnfrsf8	UTSW	4	145,019,257 (GRCm39)	missense	probably benign	0.20
R6243:Tnfrsf8	UTSW	4	145,029,671 (GRCm39)	missense	possibly damaging	0.61
R6259:Tnfrsf8	UTSW	4	145,004,094 (GRCm39)	critical splice donor site	probably null
R6326:Tnfrsf8	UTSW	4	144,995,794 (GRCm39)	missense	probably damaging	1.00
R6603:Tnfrsf8	UTSW	4	145,019,168 (GRCm39)	missense	possibly damaging	0.70
R7025:Tnfrsf8	UTSW	4	145,000,973 (GRCm39)	missense	possibly damaging	0.87
R7156:Tnfrsf8	UTSW	4	145,041,654 (GRCm39)	start codon destroyed	unknown
R7313:Tnfrsf8	UTSW	4	145,000,952 (GRCm39)	missense	probably benign	0.33
R7505:Tnfrsf8	UTSW	4	144,995,685 (GRCm39)	missense	probably damaging	1.00
R8255:Tnfrsf8	UTSW	4	145,041,653 (GRCm39)	start codon destroyed	probably null
R8354:Tnfrsf8	UTSW	4	145,014,553 (GRCm39)	missense	probably benign	0.41
R8406:Tnfrsf8	UTSW	4	145,019,265 (GRCm39)	missense	probably damaging	0.98
R8454:Tnfrsf8	UTSW	4	145,014,553 (GRCm39)	missense	probably benign	0.41
R8554:Tnfrsf8	UTSW	4	145,023,511 (GRCm39)	missense	probably damaging	1.00
R8894:Tnfrsf8	UTSW	4	145,001,038 (GRCm39)	missense	possibly damaging	0.94
R9125:Tnfrsf8	UTSW	4	145,023,531 (GRCm39)	missense	probably damaging	1.00
R9711:Tnfrsf8	UTSW	4	145,019,668 (GRCm39)	critical splice donor site	probably null
Z1177:Tnfrsf8	UTSW	4	145,019,279 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGGACCTTTGGCACTTGAGC -3'
(R):5'- GAGCCTTTCTCCATAGACACTAATC -3'

Sequencing Primer
(F):5'- ACTTGAGCCTCAGCCTCAG -3'
(R):5'- TTCTCCATAGACACTAATCCCCAAAC -3'

Posted On

2016-10-06