Mutagenetix > Incidental Mutation

Incidental Mutation 'R7505:Tnfrsf8'

581717

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf8

Ensembl Gene

ENSMUSG00000028602

Gene Name

tumor necrosis factor receptor superfamily, member 8

Synonyms

CD30

MMRRC Submission

045578-MU

Accession Numbers

Essential gene?

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

Stock #

R7505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144993707-145041734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144995685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 458 (D458A)

Ref Sequence

ENSEMBL: ENSMUSP00000030339 (fasta)

Gene Model

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

AlphaFold

Q60846

Predicted Effect

probably damaging
Transcript: ENSMUST00000030339
AA Change: D458A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: D458A

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

probably benign
Transcript: ENSMUST00000123027

SMART Domains

Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,033,260 (GRCm39)	N719Y	possibly damaging	Het
Adamts2	T	C	11: 50,687,347 (GRCm39)	I1058T	probably benign	Het
Alb	T	A	5: 90,617,368 (GRCm39)	Y356N	probably damaging	Het
Ankrd52	A	G	10: 128,225,924 (GRCm39)	N971D	probably damaging	Het
Atp6v1c2	A	G	12: 17,347,724 (GRCm39)		probably null	Het
Atp6v1h	A	T	1: 5,194,561 (GRCm39)	I247L	probably benign	Het
Cacna1s	C	T	1: 136,013,187 (GRCm39)	R593*	probably null	Het
Cacna2d3	C	T	14: 28,767,501 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,575,231 (GRCm39)	G2D	probably benign	Het
Cebpe	G	T	14: 54,948,113 (GRCm39)	N243K	probably damaging	Het
Celf2	A	T	2: 6,629,511 (GRCm39)	M136K	probably damaging	Het
Cep290	A	G	10: 100,352,127 (GRCm39)	I778V	probably benign	Het
Col22a1	A	T	15: 71,671,248 (GRCm39)	C1592*	probably null	Het
Cpne2	A	T	8: 95,275,094 (GRCm39)	N34I	possibly damaging	Het
Cps1	A	G	1: 67,219,240 (GRCm39)	N860S	probably benign	Het
Disp2	T	G	2: 118,621,569 (GRCm39)	L767R	probably damaging	Het
Eif1ad19	A	T	12: 87,740,270 (GRCm39)	N96K	probably benign	Het
Evpl	A	G	11: 116,117,813 (GRCm39)		probably null	Het
F7	A	T	8: 13,078,745 (GRCm39)	N59Y	possibly damaging	Het
Fam98a	A	T	17: 75,845,233 (GRCm39)	H504Q	unknown	Het
Fbxo4	G	A	15: 4,000,903 (GRCm39)	R270C	probably benign	Het
Fcgbp	T	C	7: 27,789,099 (GRCm39)	V555A	probably damaging	Het
Fgf4	T	C	7: 144,415,498 (GRCm39)	V86A	possibly damaging	Het
Fpgt	G	T	3: 154,792,413 (GRCm39)	A538D	possibly damaging	Het
Gars1	A	G	6: 55,029,162 (GRCm39)	T181A	probably benign	Het
Gask1a	G	C	9: 121,805,483 (GRCm39)	G425R	probably benign	Het
Gbx2	A	G	1: 89,856,455 (GRCm39)	S312P	probably benign	Het
Gm29735	C	T	7: 141,710,327 (GRCm39)	C175Y	unknown	Het
Gm7995	A	G	14: 42,132,314 (GRCm39)	T49A		Het
Hnrnpk	A	G	13: 58,547,783 (GRCm39)	M27T	probably benign	Het
Idh3b	A	G	2: 130,126,147 (GRCm39)	S20P	probably benign	Het
Idh3b	G	C	2: 130,126,153 (GRCm39)	R18G	probably benign	Het
Ighg2b	T	A	12: 113,268,600 (GRCm39)	T354S		Het
Lrfn2	T	A	17: 49,403,479 (GRCm39)	M534K	probably benign	Het
Mcpt8	G	A	14: 56,320,548 (GRCm39)	A127V	probably benign	Het
Msi2	A	T	11: 88,304,743 (GRCm39)	N176K	possibly damaging	Het
Mtr	G	T	13: 12,236,362 (GRCm39)	D621E	probably benign	Het
Nlrp5	T	A	7: 23,106,925 (GRCm39)	I63N	probably benign	Het
Nol6	T	C	4: 41,120,352 (GRCm39)	D455G	probably damaging	Het
Nrde2	A	T	12: 100,098,757 (GRCm39)	S637T	probably benign	Het
Ntn4	G	T	10: 93,543,146 (GRCm39)	G291W	probably damaging	Het
Or13a28	C	A	7: 140,217,965 (GRCm39)	T117K	probably damaging	Het
Or4d10	T	A	19: 12,051,969 (GRCm39)	E9V	possibly damaging	Het
Otof	T	A	5: 30,528,364 (GRCm39)	T1865S	probably benign	Het
Plec	A	T	15: 76,065,394 (GRCm39)	S1559T	unknown	Het
Plekhm1	C	T	11: 103,270,855 (GRCm39)		probably null	Het
Plin4	T	A	17: 56,416,357 (GRCm39)	Q49L	possibly damaging	Het
Polrmt	A	G	10: 79,573,717 (GRCm39)	F995L	probably benign	Het
Polrmt	A	G	10: 79,579,010 (GRCm39)		probably null	Het
Pramel16	A	G	4: 143,676,273 (GRCm39)	I277T	possibly damaging	Het
Pramel28	C	T	4: 143,691,556 (GRCm39)	C389Y	probably benign	Het
Rims1	T	C	1: 22,573,077 (GRCm39)	T375A	possibly damaging	Het
Ryr3	A	T	2: 112,542,774 (GRCm39)	M3145K	probably damaging	Het
S100a11	A	G	3: 93,433,339 (GRCm39)	K61R	probably benign	Het
Sar1a	A	G	10: 61,527,073 (GRCm39)	T164A	probably benign	Het
Sec31b	C	T	19: 44,532,146 (GRCm39)	A25T	probably damaging	Het
Smpd2	A	G	10: 41,363,350 (GRCm39)	V371A	probably benign	Het
Speer1g	T	A	5: 11,181,135 (GRCm39)	Y141N	possibly damaging	Het
Spg11	A	T	2: 121,905,832 (GRCm39)	L1271*	probably null	Het
Svep1	T	C	4: 58,115,862 (GRCm39)	T944A	possibly damaging	Het
Taf6	A	T	5: 138,178,207 (GRCm39)	C431*	probably null	Het
Tdrd6	A	G	17: 43,938,570 (GRCm39)	V826A	not run	Het
Tent4a	G	T	13: 69,655,047 (GRCm39)	P476T	probably damaging	Het
Tmem132a	A	G	19: 10,836,037 (GRCm39)	V831A	probably damaging	Het
Trpv5	A	G	6: 41,651,590 (GRCm39)	I196T	probably damaging	Het
Ttn	T	A	2: 76,608,898 (GRCm39)	D17706V	probably damaging	Het
Uimc1	T	C	13: 55,223,444 (GRCm39)	Y276C	probably damaging	Het
Usp24	T	A	4: 106,236,276 (GRCm39)	I988K	probably damaging	Het
Vmn2r74	T	A	7: 85,606,279 (GRCm39)	R356*	probably null	Het
Wdr37	A	T	13: 8,869,971 (GRCm39)	H429Q	probably damaging	Het
Wwc2	A	T	8: 48,333,185 (GRCm39)	L277Q	probably damaging	Het
Zscan12	T	A	13: 21,552,756 (GRCm39)	N193K	possibly damaging	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
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
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'- CAAGTTGTGGTAGCTTCCCAG -3'
(R):5'- GTATCTGTGCGAAGTCACCC -3'

Sequencing Primer
(F):5'- TGGTAGCTTCCCAGGTGCTAAC -3'
(R):5'- GTCACCCAGCACATGAGG -3'

Posted On

2019-10-17