Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Tnfrsf8'

20635

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf8

Ensembl Gene

ENSMUSG00000028602

Gene Name

tumor necrosis factor receptor superfamily, member 8

Synonyms

CD30

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

144993707-145041734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145014617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 264 (D264G)

Ref Sequence

ENSEMBL: ENSMUSP00000030339 (fasta)

Gene Model

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

AlphaFold

Q60846

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030339
AA Change: D264G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: D264G

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: D264G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: D264G

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	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
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
R5452:Tnfrsf8	UTSW	4	145,019,214 (GRCm39)	missense	possibly damaging	0.96
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'- TGAGCCACTTCATTGATCCAACCC -3'
(R):5'- CTCAGGCAGTGTCCAGGAAAGTAAG -3'

Sequencing Primer
(F):5'- gacatacactacgaagcccc -3'
(R):5'- CCAGAGGGTCTAGAGCTTAATC -3'

Posted On

2013-04-11