Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Tnfrsf8'

510399

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf8

Ensembl Gene

ENSMUSG00000028602

Gene Name

tumor necrosis factor receptor superfamily, member 8

Synonyms

CD30

MMRRC Submission

044480-MU

Accession Numbers

Essential gene?

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

Stock #

R6326 (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 144995794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 422 (I422L)

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: I422L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: I422L

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: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	T	7: 66,770,636 (GRCm39)	Y915F	probably benign	Het
Adap2	T	A	11: 80,045,848 (GRCm39)	F43I	probably damaging	Het
Adprs	A	T	4: 126,210,406 (GRCm39)	L358Q	possibly damaging	Het
Akap9	A	C	5: 4,012,061 (GRCm39)	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,143,256 (GRCm39)	S389P	probably benign	Het
Atg2b	A	T	12: 105,627,351 (GRCm39)	C545*	probably null	Het
C2cd3	A	G	7: 100,065,635 (GRCm39)	E807G	probably benign	Het
Ccdc110	A	G	8: 46,395,078 (GRCm39)	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,153,691 (GRCm39)	S1711C	probably damaging	Het
Cebpzos	T	G	17: 79,226,486 (GRCm39)	D39E	probably damaging	Het
Cenpe	A	G	3: 134,945,539 (GRCm39)	N1018D	probably benign	Het
Cfap68	T	G	9: 50,676,057 (GRCm39)	N87T	probably damaging	Het
Clspn	C	A	4: 126,459,532 (GRCm39)	H141Q	probably damaging	Het
Cluh	C	T	11: 74,557,068 (GRCm39)	A1010V	probably benign	Het
Col27a1	G	T	4: 63,242,678 (GRCm39)		probably benign	Het
Cpt2	T	C	4: 107,771,513 (GRCm39)	M61V	probably benign	Het
Ddr2	T	A	1: 169,814,709 (GRCm39)	H578L	probably damaging	Het
Dnah14	T	A	1: 181,611,121 (GRCm39)	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,813,978 (GRCm39)	T264A	possibly damaging	Het
Ecpas	T	A	4: 58,827,068 (GRCm39)	T1022S	probably benign	Het
Eml6	T	C	11: 29,769,066 (GRCm39)	N693S	probably damaging	Het
Ephx4	A	G	5: 107,553,977 (GRCm39)	E9G	probably damaging	Het
Eps15l1	G	A	8: 73,095,278 (GRCm39)	Q747*	probably null	Het
Flrt1	C	T	19: 7,073,974 (GRCm39)	S191N	probably damaging	Het
Gm5114	C	T	7: 39,057,579 (GRCm39)	R680H	probably benign	Het
Gm5431	T	C	11: 48,780,172 (GRCm39)	H250R	probably damaging	Het
Gm7233	T	C	14: 43,040,342 (GRCm39)	C198R	possibly damaging	Het
Herc2	C	G	7: 55,872,682 (GRCm39)	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,144,734 (GRCm39)		probably benign	Het
Hoxb7	C	A	11: 96,177,909 (GRCm39)	A119E	probably benign	Het
Ifi207	A	T	1: 173,557,532 (GRCm39)	M402K	probably benign	Het
Ints14	T	C	9: 64,871,719 (GRCm39)	V19A	probably benign	Het
Itgae	T	A	11: 73,022,519 (GRCm39)	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,004,048 (GRCm39)	S145G	probably damaging	Het
Klhdc4	A	G	8: 122,531,793 (GRCm39)	W187R	probably damaging	Het
Krt1	A	T	15: 101,758,684 (GRCm39)	I160N	probably damaging	Het
Krt12	T	C	11: 99,307,745 (GRCm39)	T448A	probably benign	Het
Lcmt2	G	A	2: 120,969,938 (GRCm39)	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651 (GRCm39)	S221N	probably damaging	Het
Med17	T	C	9: 15,190,854 (GRCm39)	D79G	probably benign	Het
Mlf1	A	T	3: 67,307,060 (GRCm39)	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,879,098 (GRCm39)	F153I	probably damaging	Het
Msto1	A	C	3: 88,819,405 (GRCm39)	V149G	probably damaging	Het
Mybl1	T	C	1: 9,748,732 (GRCm39)		probably null	Het
Myoc	A	G	1: 162,476,580 (GRCm39)	Y428C	probably damaging	Het
Nin	A	G	12: 70,091,955 (GRCm39)	S785P	possibly damaging	Het
Oit3	A	T	10: 59,264,061 (GRCm39)	F358I	probably damaging	Het
Or5t15	C	T	2: 86,681,338 (GRCm39)	V235I	probably benign	Het
Or6c88	A	G	10: 129,406,571 (GRCm39)	T16A	possibly damaging	Het
Paip1	A	G	13: 119,566,753 (GRCm39)	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,855,509 (GRCm39)	S635P	probably benign	Het
Pcsk1	A	G	13: 75,280,298 (GRCm39)	N708D	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prag1	A	T	8: 36,569,860 (GRCm39)	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,691,359 (GRCm39)	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,793,931 (GRCm39)	V568D	probably damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Resf1	T	A	6: 149,230,493 (GRCm39)	Y1180N	probably damaging	Het
Robo3	T	A	9: 37,338,323 (GRCm39)	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,828 (GRCm39)	V420A	possibly damaging	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,419,242 (GRCm39)	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,831,297 (GRCm39)	Y362*	probably null	Het
Slc5a9	T	C	4: 111,737,450 (GRCm39)	E603G	probably benign	Het
Slc6a17	A	T	3: 107,407,722 (GRCm39)	I83N	probably damaging	Het
Snx29	G	T	16: 11,221,430 (GRCm39)	M285I	probably benign	Het
Spata2	T	C	2: 167,326,094 (GRCm39)	T242A	possibly damaging	Het
Stard13	A	G	5: 150,970,384 (GRCm39)	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045 (GRCm39)	V2088A	possibly damaging	Het
Tdp2	A	G	13: 25,024,540 (GRCm39)	E279G	probably damaging	Het
Tpk1	T	A	6: 43,323,736 (GRCm39)	T189S	possibly damaging	Het
Trhde	A	T	10: 114,403,129 (GRCm39)	M498K	probably damaging	Het
Trim35	T	A	14: 66,540,653 (GRCm39)	H168Q	possibly damaging	Het
Tubb5	T	C	17: 36,147,347 (GRCm39)		probably benign	Het
Tut4	C	T	4: 108,336,177 (GRCm39)	T6I	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,451,031 (GRCm39)	G306R	probably benign	Het
Xkr4	C	T	1: 3,741,261 (GRCm39)	R104H	possibly damaging	Het
Zfp398	T	C	6: 47,843,355 (GRCm39)	I337T	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
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'- TTCTCAGAGACAGTCGTGGG -3'
(R):5'- CTGGACTGACTGCATTCTGTC -3'

Sequencing Primer
(F):5'- ACCGAGAACATGACCTCAGTG -3'
(R):5'- GTCCATCTCTGATGACATGCCTAAG -3'

Posted On

2018-04-02