Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Tnfrsf8'

355899

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf8

Ensembl Gene

ENSMUSG00000028602

Gene Name

tumor necrosis factor receptor superfamily, member 8

Synonyms

CD30

MMRRC Submission

041948-MU

Accession Numbers

Essential gene?

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

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144993707-145041734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145029692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

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: Y36C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: Y36C

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: Y36C

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

SMART Domains

Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: Y36C

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

0.7082

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,742,795 (GRCm39)		probably benign	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abca14	T	A	7: 119,911,928 (GRCm39)		probably null	Het
Abca8a	A	C	11: 109,961,308 (GRCm39)	V538G	probably damaging	Het
Acy1	C	T	9: 106,310,782 (GRCm39)	G329R	probably benign	Het
Adamts17	T	C	7: 66,691,636 (GRCm39)	C607R	probably damaging	Het
Adamts20	A	T	15: 94,292,503 (GRCm39)	C202*	probably null	Het
Adcy5	A	G	16: 35,099,586 (GRCm39)	N712S	possibly damaging	Het
Ahnak	A	G	19: 8,982,045 (GRCm39)	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127 (GRCm39)	H578L	possibly damaging	Het
Appl1	C	A	14: 26,647,928 (GRCm39)	L626F	probably benign	Het
Arl1	A	G	10: 88,566,499 (GRCm39)		probably benign	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Carm1	A	G	9: 21,498,480 (GRCm39)	N466S	probably benign	Het
Cbl	A	G	9: 44,084,677 (GRCm39)	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,839,027 (GRCm39)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc7	T	C	5: 107,121,707 (GRCm39)	F207L	probably benign	Het
Celsr2	T	C	3: 108,304,547 (GRCm39)	R2271G	probably benign	Het
Cep162	T	C	9: 87,088,915 (GRCm39)	Q989R	probably damaging	Het
Cep89	A	G	7: 35,137,862 (GRCm39)	T749A	probably benign	Het
Clcn5	T	C	X: 7,032,591 (GRCm39)		probably null	Het
Clu	A	T	14: 66,217,313 (GRCm39)	Y382F	probably benign	Het
Cnih4	A	G	1: 180,993,808 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,126,509 (GRCm39)	L1340P	probably damaging	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,520,405 (GRCm39)	E484G	probably benign	Het
Dsg4	G	T	18: 20,589,965 (GRCm39)	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,704,191 (GRCm39)	D21G	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,935,560 (GRCm39)		probably null	Het
F10	G	T	8: 13,089,621 (GRCm39)	V67F	possibly damaging	Het
Fat3	A	G	9: 15,942,469 (GRCm39)	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Flt4	C	A	11: 49,517,271 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,990,312 (GRCm39)	T1128I	unknown	Het
Fos	T	C	12: 85,522,936 (GRCm39)	S283P	probably benign	Het
Fryl	T	C	5: 73,222,881 (GRCm39)	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,817,373 (GRCm39)	Q4369K	probably benign	Het
Gad2	A	T	2: 22,563,982 (GRCm39)	H395L	probably damaging	Het
Grm2	T	A	9: 106,531,130 (GRCm39)	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,227,751 (GRCm39)	I1974N	probably damaging	Het
Il23r	T	C	6: 67,450,834 (GRCm39)	N215S	probably damaging	Het
Jph1	T	A	1: 17,161,928 (GRCm39)	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,127,908 (GRCm39)	G83R	probably damaging	Het
Map2	A	G	1: 66,449,796 (GRCm39)	E173G	probably damaging	Het
Med29	T	A	7: 28,086,352 (GRCm39)	D152V	possibly damaging	Het
Megf8	A	G	7: 25,062,940 (GRCm39)	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,025,978 (GRCm39)		probably benign	Het
Myh7	A	G	14: 55,225,778 (GRCm39)	I521T	possibly damaging	Het
Mylk	G	T	16: 34,742,805 (GRCm39)	V1106L	probably benign	Het
Myo15b	A	T	11: 115,752,761 (GRCm39)	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,466,785 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,359,922 (GRCm39)	V438A	possibly damaging	Het
Nav3	A	G	10: 109,600,796 (GRCm39)	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841 (GRCm38)	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809 (GRCm38)	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944 (GRCm39)	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,480,085 (GRCm39)	V487E	probably damaging	Het
Oc90	T	A	15: 65,753,354 (GRCm39)	R322W	possibly damaging	Het
Or1q1	C	A	2: 36,887,515 (GRCm39)	A231D	probably benign	Het
Or4f60	A	G	2: 111,902,097 (GRCm39)	V277A	possibly damaging	Het
Or52e4	A	T	7: 104,705,483 (GRCm39)	H10L	possibly damaging	Het
Or8b4	A	G	9: 37,830,217 (GRCm39)	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,662,160 (GRCm39)	H231R	probably damaging	Het
Pate6	A	T	9: 35,701,021 (GRCm39)	C22S	probably damaging	Het
Pdzph1	T	C	17: 59,281,541 (GRCm39)	H247R	probably damaging	Het
Pidd1	T	C	7: 141,022,162 (GRCm39)	N209S	probably damaging	Het
Pknox1	C	T	17: 31,822,286 (GRCm39)	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,935,576 (GRCm39)	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,519,976 (GRCm39)	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,631,224 (GRCm39)	D21G	possibly damaging	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,318,908 (GRCm39)		noncoding transcript	Het
Sdc1	A	G	12: 8,840,541 (GRCm39)	E106G	possibly damaging	Het
Slc10a5	T	G	3: 10,400,360 (GRCm39)	Q100P	probably damaging	Het
Slc10a5	C	A	3: 10,400,359 (GRCm39)	Q100H	probably damaging	Het
Slc5a9	A	T	4: 111,748,134 (GRCm39)	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,012,475 (GRCm39)	V197A	probably benign	Het
Spire1	T	C	18: 67,645,935 (GRCm39)	M244V	probably benign	Het
St3gal3	C	T	4: 117,817,232 (GRCm39)	V141I	probably benign	Het
St6galnac4	G	T	2: 32,477,172 (GRCm39)		probably benign	Het
Svep1	T	C	4: 58,097,323 (GRCm39)	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,100,745 (GRCm39)	C78R	probably damaging	Het
Tcstv5	T	C	13: 120,411,378 (GRCm39)	Y76C	probably benign	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869 (GRCm39)	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,806,519 (GRCm39)	A1433T	probably benign	Het
Trp53i11	G	T	2: 93,030,245 (GRCm39)	R184L	probably damaging	Het
Trpv1	A	T	11: 73,142,110 (GRCm39)	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,755,533 (GRCm39)	S132T	probably benign	Het
Ttc28	T	C	5: 111,424,909 (GRCm39)	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,240,100 (GRCm39)		probably null	Het
Tubal3	T	A	13: 3,983,514 (GRCm39)	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,240,301 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,903,190 (GRCm39)	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,149,586 (GRCm39)	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,149,587 (GRCm39)	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,694,942 (GRCm39)	G474E	probably damaging	Het
Vps26b	T	C	9: 26,926,511 (GRCm39)	K163E	probably damaging	Het
Zfp142	A	G	1: 74,609,431 (GRCm39)	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,603,844 (GRCm39)	E52K	possibly damaging	Het
Zfp423	T	A	8: 88,508,338 (GRCm39)		probably null	Het
Zfp493	T	C	13: 67,934,736 (GRCm39)	F230L	probably damaging	Het
Zfp760	T	C	17: 21,941,388 (GRCm39)	C188R	probably benign	Het
Zfyve28	G	T	5: 34,375,189 (GRCm39)	T275K	probably damaging	Het
Znhit3	T	C	11: 84,807,155 (GRCm39)	N5D	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
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
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'- ATGGCCTTTGGAAACCTGTAG -3'
(R):5'- CCCATTTGCATCTAAGCTGTCG -3'

Sequencing Primer
(F):5'- GGCCTTTGGAAACCTGTAGCTAAC -3'
(R):5'- ATGAGGAGTCAGGAATTTCTCC -3'

Posted On

2015-10-21