Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:Tnfrsf9'

561645

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf9

Ensembl Gene

ENSMUSG00000028965

Gene Name

tumor necrosis factor receptor superfamily, member 9

Synonyms

Cd137, CDw137, 4-1BB, ILA, Ly63, A930040I11Rik

MMRRC Submission

045291-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151004612-151030561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 151019991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 217 (K217N)

Ref Sequence

ENSEMBL: ENSMUSP00000030808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030808] [ENSMUST00000060901] [ENSMUST00000105671] [ENSMUST00000105672] [ENSMUST00000116257] [ENSMUST00000126707] [ENSMUST00000135169] [ENSMUST00000139826] [ENSMUST00000169423]

AlphaFold

P20334

PDB Structure

STRUCTURE OF TNF RECEPTOR ASSOCIATED FACTOR 2 IN COMPLEX WITH A M4-1BB PEPTIDE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030808
AA Change: K217N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030808
Gene: ENSMUSG00000028965
AA Change: K217N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	2.36e-6	SMART
TNFR	119	158	1.11e-2	SMART
transmembrane domain	189	211	N/A	INTRINSIC
low complexity region	246	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060901

SMART Domains

Protein: ENSMUSP00000059684
Gene: ENSMUSG00000028965

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	1.1e-8	SMART
TNFR	119	158	5.4e-5	SMART
low complexity region	201	208	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105671
AA Change: K217N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101296
Gene: ENSMUSG00000028965
AA Change: K217N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	2.36e-6	SMART
TNFR	119	158	1.11e-2	SMART
transmembrane domain	189	211	N/A	INTRINSIC
low complexity region	246	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105672

SMART Domains

Protein: ENSMUSP00000101297
Gene: ENSMUSG00000028965

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	1.1e-8	SMART
TNFR	119	158	5.4e-5	SMART
low complexity region	201	208	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116257
AA Change: K217N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111961
Gene: ENSMUSG00000028965
AA Change: K217N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	2.36e-6	SMART
TNFR	119	158	1.11e-2	SMART
transmembrane domain	189	211	N/A	INTRINSIC
low complexity region	246	253	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126707
AA Change: K217N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122917
Gene: ENSMUSG00000028965
AA Change: K217N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	2.36e-6	SMART
TNFR	119	158	1.11e-2	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135169

SMART Domains

Protein: ENSMUSP00000120761
Gene: ENSMUSG00000028965

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	2.36e-6	SMART
TNFR	119	158	1.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139826

SMART Domains

Protein: ENSMUSP00000117860
Gene: ENSMUSG00000028965

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	47	85	2.36e-6	SMART
TNFR	119	158	1.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169423

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

Domain	Start	End	E-Value	Type
CG-1	67	183	1.39e-91	SMART
low complexity region	550	583	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
Pfam:TIG	874	954	3.1e-11	PFAM
low complexity region	997	1030	N/A	INTRINSIC
ANK	1066	1095	1.7e2	SMART
ANK	1111	1141	4.73e2	SMART
low complexity region	1301	1319	N/A	INTRINSIC
IQ	1548	1564	2.38e2	SMART
IQ	1578	1600	5.42e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

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 contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in enhanced T cell proliferation, decreased B cell IgG production, decreased cytotoxic T cell activity, and increased numbers of erythrocytes, granulocyte macrophages, and multipotential progenitor cells in the bone marrow, blood, and spleen. [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
4930562C15Rik	T	C	16: 4,667,508 (GRCm39)	S300P	unknown	Het
Abhd17a	T	A	10: 80,420,008 (GRCm39)	K226*	probably null	Het
Alkbh7	T	A	17: 57,305,508 (GRCm39)	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,806,069 (GRCm39)	H112Q	probably damaging	Het
Capn3	A	G	2: 120,333,935 (GRCm39)	E790G	probably damaging	Het
Cd47	C	A	16: 49,728,440 (GRCm39)	N330K	possibly damaging	Het
Cd55	A	G	1: 130,390,343 (GRCm39)	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,718,154 (GRCm39)	I373V	probably damaging	Het
Cfap43	T	C	19: 47,779,912 (GRCm39)	I514V	probably benign	Het
Cfap73	A	T	5: 120,768,200 (GRCm39)	M186K	probably benign	Het
Chd9	A	G	8: 91,728,394 (GRCm39)	D1270G	unknown	Het
Ciita	A	G	16: 10,330,121 (GRCm39)	T802A	probably benign	Het
Dlgap2	A	G	8: 14,793,296 (GRCm39)	E430G	probably benign	Het
Dlx1	C	A	2: 71,360,513 (GRCm39)	S59*	probably null	Het
Dnaaf3	T	C	7: 4,531,076 (GRCm39)	N119S	probably damaging	Het
Dnah11	T	G	12: 118,004,830 (GRCm39)	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,090,624 (GRCm39)	K1079R	probably benign	Het
Dnah12	C	T	14: 26,576,837 (GRCm39)	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,606,918 (GRCm39)	Y136F	probably damaging	Het
Enox1	T	A	14: 77,958,284 (GRCm39)	M611K	probably benign	Het
Fam149a	A	T	8: 45,803,600 (GRCm39)	I378N	possibly damaging	Het
Farp2	T	C	1: 93,488,040 (GRCm39)	F89S	probably damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Frs3	A	G	17: 48,013,620 (GRCm39)	T181A	probably damaging	Het
Heatr4	T	A	12: 84,004,644 (GRCm39)	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,290,216 (GRCm39)	E375A		Het
Ikzf4	G	T	10: 128,470,252 (GRCm39)	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,187,945 (GRCm39)	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,681,797 (GRCm39)	Y53C	unknown	Het
Loricrin	C	A	3: 91,988,705 (GRCm39)	G194C	unknown	Het
Lrp1	A	C	10: 127,393,097 (GRCm39)	D2720E	probably benign	Het
Lrp4	A	G	2: 91,322,368 (GRCm39)	Y1068C	probably damaging	Het
Mbnl1	A	G	3: 60,511,244 (GRCm39)	N67D	probably benign	Het
Mrpl21	A	G	19: 3,336,998 (GRCm39)	E123G	probably benign	Het
Mst1	A	T	9: 107,958,485 (GRCm39)	D65V	probably damaging	Het
Myo15b	T	A	11: 115,767,921 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,028,052 (GRCm39)	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,940,957 (GRCm39)	W279R	probably damaging	Het
Or4f4-ps1	A	T	2: 111,330,532 (GRCm39)	M312L	probably benign	Het
Or4k77	A	T	2: 111,199,882 (GRCm39)	I302L	probably benign	Het
Or51f5	A	G	7: 102,430,913 (GRCm39)	I77V	probably benign	Het
Pcdh9	C	T	14: 93,253,216 (GRCm39)	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,129,907 (GRCm39)	T283I	probably benign	Het
Pdhx	A	G	2: 102,858,760 (GRCm39)	V348A	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,602,023 (GRCm39)	M131K	probably null	Het
Raph1	A	G	1: 60,542,032 (GRCm39)	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,866,341 (GRCm39)	N593S	probably damaging	Het
Rbm38	A	C	2: 172,863,990 (GRCm39)	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,797,715 (GRCm39)	T631A	probably benign	Het
Sbno1	A	T	5: 124,543,722 (GRCm39)	D272E	probably benign	Het
Scamp1	T	A	13: 94,361,415 (GRCm39)	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,866,984 (GRCm39)	S263R	probably damaging	Het
Setbp1	T	G	18: 78,798,960 (GRCm39)	T1407P	probably damaging	Het
Skor2	T	C	18: 76,948,096 (GRCm39)	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,814,796 (GRCm39)	N241S	probably benign	Het
Slc36a2	T	G	11: 55,059,744 (GRCm39)	D247A	probably benign	Het
Smim10l1	T	A	6: 133,084,895 (GRCm39)	F87L	unknown	Het
Son	T	C	16: 91,461,889 (GRCm39)	S2265P	unknown	Het
Spta1	A	G	1: 174,050,203 (GRCm39)	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,774,201 (GRCm39)	D84G	probably damaging	Het
Tasor2	T	A	13: 3,640,521 (GRCm39)	L205F	probably damaging	Het
Tbc1d24	G	A	17: 24,404,266 (GRCm39)	R293C	probably damaging	Het
Tex15	A	G	8: 34,036,268 (GRCm39)	T65A	probably benign	Het
Thyn1	A	G	9: 26,916,506 (GRCm39)	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700 (GRCm39)	L250P	probably damaging	Het
Tnxb	A	G	17: 34,898,039 (GRCm39)	T896A	probably benign	Het
Trpm1	T	A	7: 63,854,333 (GRCm39)	I285N	possibly damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
U2surp	G	A	9: 95,372,215 (GRCm39)	R316*	probably null	Het
Ubr2	G	T	17: 47,246,360 (GRCm39)	S1618*	probably null	Het
Ugp2	T	C	11: 21,273,271 (GRCm39)	I449M	probably damaging	Het
Umodl1	A	G	17: 31,201,236 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,105 (GRCm39)	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,397,397 (GRCm39)	M287K	probably damaging	Het
Wwc2	A	G	8: 48,311,919 (GRCm39)	V748A	unknown	Het
Zfp800	A	C	6: 28,243,662 (GRCm39)	H434Q	probably benign	Het
Zfp869	A	G	8: 70,159,356 (GRCm39)	C406R	probably damaging	Het
Zhx1	A	G	15: 57,917,733 (GRCm39)	V171A	probably benign	Het

Other mutations in Tnfrsf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
asilomar	UTSW	4	151,014,331 (GRCm39)	missense	probably benign	0.01
Monterey	UTSW	4	151,018,804 (GRCm39)	nonsense	probably null
FR4304:Tnfrsf9	UTSW	4	151,018,852 (GRCm39)	intron	probably benign
FR4342:Tnfrsf9	UTSW	4	151,018,851 (GRCm39)	intron	probably benign
R1496:Tnfrsf9	UTSW	4	151,017,561 (GRCm39)	critical splice donor site	probably null
R1870:Tnfrsf9	UTSW	4	151,018,804 (GRCm39)	nonsense	probably null
R5596:Tnfrsf9	UTSW	4	151,014,331 (GRCm39)	missense	probably benign	0.01
R7322:Tnfrsf9	UTSW	4	151,018,794 (GRCm39)	missense	probably damaging	1.00
R7440:Tnfrsf9	UTSW	4	151,014,331 (GRCm39)	missense	probably benign	0.01
R7680:Tnfrsf9	UTSW	4	151,014,395 (GRCm39)	missense	probably damaging	1.00
R8300:Tnfrsf9	UTSW	4	151,017,556 (GRCm39)	missense	probably damaging	1.00
R9684:Tnfrsf9	UTSW	4	151,018,865 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGGTGAGCTCCAATCAAG -3'
(R):5'- ATGGGCTAGCCAACTGTATGC -3'

Sequencing Primer
(F):5'- GCTCCAATCAAGCTTGCG -3'
(R):5'- TCCAAGCCTGCAATATGGATG -3'

Posted On

2019-06-26