Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Tnfrsf9'

510984

Institutional Source

Beutler Lab

Gene Symbol

Tnfrsf9

Ensembl Gene

ENSMUSG00000028965

Gene Name

tumor necrosis factor receptor superfamily, member 9

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

FR4304 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

150914562-150946102 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to TGCC at 150934395 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127916 (fasta)

Gene Model

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

AlphaFold

P20334

Predicted Effect

probably benign
Transcript: ENSMUST00000030808

SMART Domains

Protein: ENSMUSP00000030808
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
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 benign
Transcript: ENSMUST00000105671

SMART Domains

Protein: ENSMUSP00000101296
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
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 benign
Transcript: ENSMUST00000116257

SMART Domains

Protein: ENSMUSP00000111961
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
transmembrane domain	189	211	N/A	INTRINSIC
low complexity region	246	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126707

SMART Domains

Protein: ENSMUSP00000122917
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
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

noncoding transcript
Transcript: ENSMUST00000146133

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 96.4%

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 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: 137 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCGTC	12: 110,668,450 (GRCm38)		probably benign	Homo
1700001K19Rik	CTT	CTTTTT	12: 110,668,449 (GRCm38)		probably benign	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,748 (GRCm38)		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,993,056 (GRCm38)		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,881,287 (GRCm38)		probably benign	Homo
4930548H24Rik	GAGAAG	GAG	5: 31,487,373 (GRCm38)		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 103,104,105 (GRCm38)		probably null	Homo
Ahdc1	CT	CTCTT	4: 133,062,759 (GRCm38)		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 81,077,762 (GRCm38)		probably benign	Het
Anapc4	C	T	5: 52,864,526 (GRCm38)	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,560,924 (GRCm38)		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,683,847 (GRCm38)		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,281,997 (GRCm38)		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 77,051,436 (GRCm38)		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,405,168 (GRCm38)		probably benign	Het
Arpc1b	GCC	GCCTGTCC	5: 145,126,791 (GRCm38)		probably null	Het
BC051142	GC	GCATC	17: 34,460,077 (GRCm38)		probably benign	Het
BC051142	A	AGCC	17: 34,460,055 (GRCm38)		probably benign	Het
Blm	TCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCC	7: 80,512,919 (GRCm38)		probably benign	Het
Blm	CT	CTACGT	7: 80,463,773 (GRCm38)		probably null	Homo
Btnl10	GA	GAATA	11: 58,923,930 (GRCm38)		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,620,061 (GRCm38)		probably benign	Het
Calhm3	CG	CGG	19: 47,151,896 (GRCm38)		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,397,782 (GRCm38)		probably benign	Het
Catsper2	C	CTTTTACTTTTTA	2: 121,397,542 (GRCm38)		probably null	Homo
Ccdc15	AC	ACTTTCC	9: 37,315,157 (GRCm38)		probably null	Het
Ccdc162	T	C	10: 41,556,121 (GRCm38)	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,561,021 (GRCm38)		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840 (GRCm38)		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,274,612 (GRCm38)		probably benign	Het
Cd22	C	T	7: 30,878,082 (GRCm38)	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,486,315 (GRCm38)		probably benign	Homo
Cep89	GACT	G	7: 35,409,641 (GRCm38)		probably benign	Het
Cfap74	A	G	4: 155,415,760 (GRCm38)	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 30,933,780 (GRCm38)		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,122,144 (GRCm38)		probably benign	Het
Cnpy3	TCC	TCCACC	17: 46,736,746 (GRCm38)		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 46,736,743 (GRCm38)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581 (GRCm38)		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,189,589 (GRCm38)		probably benign	Het
Col2a1	C	A	15: 97,988,981 (GRCm38)		probably null	Homo
Cpeb4	T	TGA	11: 31,927,638 (GRCm38)		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 156,072,025 (GRCm38)		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,458 (GRCm38)		probably benign	Het
Dhx37	CTGG	C	5: 125,427,530 (GRCm38)		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,188 (GRCm38)		probably benign	Homo
Dnah12	G	T	14: 26,849,385 (GRCm38)	G2817V	probably damaging	Homo
Dst	C	A	1: 34,200,964 (GRCm38)	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,775,290 (GRCm38)		probably benign	Homo
Ermn	TTC	TTCCTC	2: 58,048,078 (GRCm38)		probably benign	Het
Ermn	CTT	CTTGTT	2: 58,048,086 (GRCm38)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,094 (GRCm38)		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,097 (GRCm38)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,100 (GRCm38)		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774 (GRCm38)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783 (GRCm38)		probably benign	Homo
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396 (GRCm38)		probably benign	Homo
Frmpd2	G	T	14: 33,511,021 (GRCm38)	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042 (GRCm38)		probably benign	Homo
Gbp2b	A	G	3: 142,603,652 (GRCm38)	I175V	probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,082 (GRCm38)		probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,196,072 (GRCm38)		probably benign	Het
Gm5114	A	C	7: 39,411,106 (GRCm38)	H106Q	probably benign	Het
Gm5114	T	C	7: 39,411,105 (GRCm38)	R107G	probably benign	Het
Gm9573	T	G	17: 35,622,121 (GRCm38)		probably benign	Homo
H2-Q4	G	A	17: 35,380,405 (GRCm38)	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,120,281 (GRCm38)		probably null	Het
Hist1h1t	GAGAA	GA	13: 23,695,920 (GRCm38)		probably benign	Homo
Ifi203	C	T	1: 173,928,328 (GRCm38)		probably benign	Het
Ifi208	ATGGTG	ATG	1: 173,677,698 (GRCm38)		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877 (GRCm38)	S82N	probably benign	Homo
Il17rd	CGG	CGGTGG	14: 27,082,680 (GRCm38)		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,125,826 (GRCm38)		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,386,279 (GRCm38)		probably null	Het
Ipo9	TCC	TCCGCC	1: 135,386,275 (GRCm38)		probably benign	Het
Isg20l2	AAG	AAGCAG	3: 87,931,712 (GRCm38)		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,363 (GRCm38)		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,315,766 (GRCm38)		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,386,199 (GRCm38)		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,389,274 (GRCm38)		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,820 (GRCm38)		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,821 (GRCm38)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579 (GRCm38)		probably benign	Het
Lrch1	A	T	14: 74,819,565 (GRCm38)	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,788,819 (GRCm38)		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,621,459 (GRCm38)		probably benign	Homo
Mast4	T	TTTC	13: 102,734,862 (GRCm38)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,982 (GRCm38)		probably benign	Het
Noc2l	TGC	TGCAGC	4: 156,240,096 (GRCm38)		probably benign	Het
Nrg3	G	GACATTT	14: 38,397,273 (GRCm38)		probably benign	Homo
Olfr635	TCC	TCCC	7: 103,979,903 (GRCm38)		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972 (GRCm38)		probably benign	Homo
Park2	G	A	17: 11,854,763 (GRCm38)	V323M	probably damaging	Het
Patl2	GCT	GCTTCT	2: 122,126,135 (GRCm38)		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374 (GRCm38)		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,635,656 (GRCm38)		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,479,858 (GRCm38)		probably benign	Het
Prkd3	G	T	17: 78,975,820 (GRCm38)		probably null	Homo
Prr13	TCC	TCCCCC	15: 102,462,177 (GRCm38)		probably benign	Homo
Prrc2b	G	A	2: 32,221,167 (GRCm38)	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,914,458 (GRCm38)		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,591,198 (GRCm38)		probably benign	Homo
Scaf4	TGCGGC	TGC	16: 90,229,854 (GRCm38)		probably benign	Homo
Serac1	T	A	17: 6,070,808 (GRCm38)	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,621,368 (GRCm38)		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837 (GRCm38)		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 99,066,505 (GRCm38)		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647 (GRCm38)		probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662 (GRCm38)		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,727,664 (GRCm38)		probably null	Het
Sytl1	CTCT	C	4: 133,256,993 (GRCm38)		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,835,742 (GRCm38)		probably benign	Het
Tdpoz2	T	TCA	3: 93,651,615 (GRCm38)		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,648,302 (GRCm38)		probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094 (GRCm38)		probably benign	Het
Ticrr	ATT	ATTTTT	7: 79,694,311 (GRCm38)		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839 (GRCm38)		probably null	Homo
Tob1	GCA	GCAACA	11: 94,214,464 (GRCm38)		probably benign	Het
Tob1	CA	CAGTA	11: 94,214,477 (GRCm38)		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750 (GRCm38)		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,993,387 (GRCm38)		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,069 (GRCm38)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956 (GRCm38)		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,306,958 (GRCm38)		probably benign	Het
Vars	TGG	TGGAGTCCTGGGCGG	17: 35,015,989 (GRCm38)		probably benign	Homo
Vmn1r171	C	T	7: 23,632,680 (GRCm38)	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,384,608 (GRCm38)	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714 (GRCm38)	M334I	probably benign	Homo
Zc3h13	CG	CGAGATGTGTG	14: 75,323,610 (GRCm38)		probably benign	Het
Zc3h13	AGATGTGCG	AGATGTGCGGGATGTGCG	14: 75,323,603 (GRCm38)		probably benign	Het
Zfp282	GGC	GGCCGC	6: 47,904,797 (GRCm38)		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,036,493 (GRCm38)		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,408,274 (GRCm38)		probably null	Homo
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758 (GRCm38)		probably benign	Het
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757 (GRCm38)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775 (GRCm38)		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,645,481 (GRCm38)		probably benign	Het

Other mutations in Tnfrsf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
asilomar	UTSW	4	150,929,874 (GRCm38)	missense	probably benign	0.01
Monterey	UTSW	4	150,934,347 (GRCm38)	nonsense	probably null
FR4342:Tnfrsf9	UTSW	4	150,934,394 (GRCm38)	intron	probably benign
R1496:Tnfrsf9	UTSW	4	150,933,104 (GRCm38)	critical splice donor site	probably null
R1870:Tnfrsf9	UTSW	4	150,934,347 (GRCm38)	nonsense	probably null
R5596:Tnfrsf9	UTSW	4	150,929,874 (GRCm38)	missense	probably benign	0.01
R7219:Tnfrsf9	UTSW	4	150,935,534 (GRCm38)	missense	probably damaging	1.00
R7322:Tnfrsf9	UTSW	4	150,934,337 (GRCm38)	missense	probably damaging	1.00
R7440:Tnfrsf9	UTSW	4	150,929,874 (GRCm38)	missense	probably benign	0.01
R7680:Tnfrsf9	UTSW	4	150,929,938 (GRCm38)	missense	probably damaging	1.00
R8300:Tnfrsf9	UTSW	4	150,933,099 (GRCm38)	missense	probably damaging	1.00
R9684:Tnfrsf9	UTSW	4	150,934,408 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAGTTTCTCACGGTGCTGC -3'
(R):5'- CAGTGCCCATGGAGTCTGAATG -3'

Sequencing Primer
(F):5'- CACGGTGCTGCTCTGTAAATTAAC -3'
(R):5'- CCCATGGAGTCTGAATGGACATC -3'

Posted On

2018-04-05