Mutagenetix > Incidental Mutation

Incidental Mutation 'R7156:Tnfrsf8'

557291

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf8

Ensembl Gene

ENSMUSG00000028602

Gene Name

tumor necrosis factor receptor superfamily, member 8

Synonyms

CD30

MMRRC Submission

045257-MU

Accession Numbers

Essential gene?

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

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144993707-145041734 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 145041654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000030339 (fasta)

Gene Model

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

AlphaFold

Q60846

Predicted Effect

unknown
Transcript: ENSMUST00000030339
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: M1L

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

unknown
Transcript: ENSMUST00000123027
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
AA Change: M1L

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

0.6240

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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
4930433I11Rik	T	C	7: 40,643,282 (GRCm39)	I317T	possibly damaging	Het
Acsl5	G	A	19: 55,257,260 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,378,035 (GRCm39)	T136I	probably damaging	Het
AI597479	G	A	1: 43,150,261 (GRCm39)	D124N	probably damaging	Het
Arap2	G	T	5: 62,761,914 (GRCm39)	A1604D	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cadps2	T	C	6: 23,688,955 (GRCm39)	N118S	probably benign	Het
Caskin1	T	A	17: 24,719,657 (GRCm39)		probably null	Het
Cc2d1a	C	T	8: 84,862,389 (GRCm39)	V684M	possibly damaging	Het
Ccdc91	T	C	6: 147,435,676 (GRCm39)	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,281,792 (GRCm39)	Q99R	probably benign	Het
Celsr3	T	C	9: 108,715,203 (GRCm39)	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,700,050 (GRCm39)	L313F	possibly damaging	Het
Chst10	G	A	1: 38,913,088 (GRCm39)	T63M	probably damaging	Het
Clrn2	G	A	5: 45,611,258 (GRCm39)	G36R	probably damaging	Het
Cnn2	T	G	10: 79,830,349 (GRCm39)	Y273*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,171,964 (GRCm39)	T735A	possibly damaging	Het
Disp2	C	T	2: 118,622,292 (GRCm39)	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,588,317 (GRCm39)	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,576,700 (GRCm39)	L52R	probably damaging	Het
Dmrta2	A	G	4: 109,839,185 (GRCm39)	T311A	probably damaging	Het
Dnm1	T	A	2: 32,230,479 (GRCm39)	N112Y	probably damaging	Het
Dysf	T	C	6: 84,064,858 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,833,229 (GRCm39)	F2034L	unknown	Het
F12	G	A	13: 55,566,310 (GRCm39)	A494V	probably damaging	Het
Fbp2	A	T	13: 62,989,675 (GRCm39)	F210L	probably benign	Het
Fbxo31	T	A	8: 122,281,060 (GRCm39)	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,412,787 (GRCm39)	A95T	probably benign	Het
Frmd6	T	G	12: 70,923,983 (GRCm39)	C80W	probably damaging	Het
Fsip2	A	G	2: 82,813,085 (GRCm39)	I3135V	probably benign	Het
Garre1	G	T	7: 33,945,133 (GRCm39)	N582K	possibly damaging	Het
Guca2b	T	A	4: 119,514,887 (GRCm39)	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,341,637 (GRCm39)	T974I	probably damaging	Het
Hsdl2	T	A	4: 59,617,653 (GRCm39)	M460K	possibly damaging	Het
Ift172	C	T	5: 31,429,419 (GRCm39)	V581M	probably damaging	Het
Ift74	A	G	4: 94,549,189 (GRCm39)	K313R	possibly damaging	Het
Ints4	T	A	7: 97,184,493 (GRCm39)		probably null	Het
Iqca1l	C	T	5: 24,757,648 (GRCm39)	E150K	probably benign	Het
Kif21b	A	C	1: 136,075,562 (GRCm39)	T230P	probably damaging	Het
Kit	A	T	5: 75,776,034 (GRCm39)	Y272F	probably benign	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lce1j	T	A	3: 92,696,491 (GRCm39)	S96C	unknown	Het
Marveld3	T	A	8: 110,674,820 (GRCm39)	D332V	probably damaging	Het
Matr3	G	T	18: 35,705,974 (GRCm39)	V300F	probably damaging	Het
Mical1	T	A	10: 41,361,253 (GRCm39)		probably null	Het
Mslnl	T	A	17: 25,962,184 (GRCm39)	V194E	probably benign	Het
Mug1	C	A	6: 121,857,864 (GRCm39)	T1119K	probably damaging	Het
Mug1	C	T	6: 121,861,302 (GRCm39)	P1308S	probably damaging	Het
Neb	C	A	2: 52,195,295 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,206 (GRCm39)	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,162,045 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,526 (GRCm39)	I279T	probably benign	Het
Or8k27	T	A	2: 86,275,652 (GRCm39)	I225L	probably damaging	Het
Orc1	A	T	4: 108,452,656 (GRCm39)	E177V	probably benign	Het
Parp1	G	A	1: 180,426,629 (GRCm39)	V924I	possibly damaging	Het
Pax2	A	T	19: 44,777,298 (GRCm39)	I165F	probably benign	Het
Pnma2	C	T	14: 67,153,980 (GRCm39)	P135S	probably benign	Het
Ranbp17	A	G	11: 33,247,420 (GRCm39)	I718T	probably damaging	Het
Rbm25	T	A	12: 83,710,965 (GRCm39)	D359E	unknown	Het
Rgs3	T	C	4: 62,535,363 (GRCm39)	L194P	probably damaging	Het
Serpinb6b	A	G	13: 33,155,598 (GRCm39)	I104V	probably benign	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Smpd1	C	T	7: 105,203,693 (GRCm39)		probably benign	Het
Snx17	T	A	5: 31,354,692 (GRCm39)	M318K	probably damaging	Het
Spata31e5	A	T	1: 28,815,848 (GRCm39)	M728K	possibly damaging	Het
Stard10	G	A	7: 100,995,258 (GRCm39)	D337N	probably damaging	Het
Tex14	A	G	11: 87,375,545 (GRCm39)	T103A	probably damaging	Het
Tle1	A	G	4: 72,088,953 (GRCm39)	S97P	probably benign	Het
Traf3ip2	T	C	10: 39,502,173 (GRCm39)	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,937,579 (GRCm39)	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,837,039 (GRCm39)	I350N	probably damaging	Het
Ubr3	T	A	2: 69,851,967 (GRCm39)	I1878N	probably damaging	Het
Usp24	G	T	4: 106,245,116 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,837,229 (GRCm39)	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 86,686,851 (GRCm39)	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,189,903 (GRCm39)	S32P	probably damaging	Het
Wwc1	A	G	11: 35,788,201 (GRCm39)		probably null	Het
Zfp629	C	T	7: 127,211,463 (GRCm39)	W115*	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
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
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'- GATGCTTGCATATTTTAGTTGCCTC -3'
(R):5'- AGTCATCTCTGCACGTGGTG -3'

Sequencing Primer
(F):5'- GCATATTTTAGTTGCCTCCTGTG -3'
(R):5'- CTCTCTTAGGCTTCACAGGC -3'

Posted On

2019-06-26