Mutagenetix > Incidental Mutations

Incidental Mutation 'R4867:Tank'

376200

Institutional Source

Beutler Lab

Gene Symbol

Tank

Ensembl Gene

ENSMUSG00000064289

Gene Name

TRAF family member-associated Nf-kappa B activator

Synonyms

E430026L09Rik, I-TRAF

MMRRC Submission

042477-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61578585-61654171 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 61578635 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078074] [ENSMUST00000112502]

Predicted Effect

probably benign
Transcript: ENSMUST00000078074

SMART Domains

Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289

Domain	Start	End	E-Value	Type
coiled coil region	60	98	N/A	INTRINSIC
Pfam:TBD	165	219	1.2e-27	PFAM
ZnF_C2H2	417	443	1.81e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112502

SMART Domains

Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289

Domain	Start	End	E-Value	Type
coiled coil region	56	97	N/A	INTRINSIC
Pfam:TBD	162	218	8.2e-34	PFAM
ZnF_C2H2	416	442	1.81e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145632

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice develop fatal glomerulonephritis owing to deposition of immune complexes. Dendritic cells, macrophages and B cells from these mice are hyper-responsive to stimuli leading to increased production of immunoglobulins and inflammatory cytokines. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 124,639,360	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,472,822	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,948,548		probably null	Het
Abca6	C	A	11: 110,202,379	V1023F	probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Acsbg2	A	G	17: 56,862,914	I151T	possibly damaging	Het
Arhgap8	G	T	15: 84,740,766	L46F	probably benign	Het
Arid1a	G	A	4: 133,720,857	S115L	probably benign	Het
B4galnt2	T	C	11: 95,868,426	D344G	probably damaging	Het
BC005561	T	C	5: 104,521,002	I1130T	possibly damaging	Het
Ccdc40	T	C	11: 119,231,788	S139P	probably benign	Het
Ccnjl	T	C	11: 43,583,228	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,370,956		probably null	Het
Cog4	T	C	8: 110,866,610	V451A	probably damaging	Het
Crb1	A	T	1: 139,243,014	N818K	probably damaging	Het
Crtc1	T	C	8: 70,402,514	D152G	probably damaging	Het
Cse1l	T	A	2: 166,926,403	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,274,961		probably benign	Het
Cyp2j13	T	C	4: 96,058,998	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,550,750	F445L	possibly damaging	Het
Dlc1	T	C	8: 36,584,645	H644R	probably benign	Het
Ecm2	A	T	13: 49,531,345	I643F	probably damaging	Het
Eogt	A	T	6: 97,120,147		probably benign	Het
Fbxo41	A	C	6: 85,475,194	S777A	probably benign	Het
Fga	T	A	3: 83,028,644	D59E	probably benign	Het
Flt3	A	T	5: 147,334,440	V897D	probably damaging	Het
Fmn1	G	T	2: 113,584,120		probably null	Het
Frem3	T	C	8: 80,613,283	L735P	probably damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,857,468	D344E	probably benign	Het
Gm4788	A	T	1: 139,774,475		probably null	Het
Gtf3a	C	T	5: 146,951,913	Q145*	probably null	Het
Il1f5	A	T	2: 24,280,835	N48I	probably damaging	Het
Iqca	A	G	1: 90,089,504	L403S	probably benign	Het
Jrk	C	T	15: 74,707,220	R72Q	probably benign	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Krt12	T	C	11: 99,416,963	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,763,463	S127R	unknown	Het
Lrrc7	T	G	3: 158,161,005	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,472,200	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,587,987		probably null	Het
Mki67	T	C	7: 135,699,856	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,857	I291M	possibly damaging	Het
Olfr309	T	C	7: 86,306,283	T277A	probably benign	Het
Olfr340	A	C	2: 36,453,199	M205L	probably benign	Het
Olfr456	A	G	6: 42,487,097	V32A	probably benign	Het
Olfr49	T	A	14: 54,282,629	T89S	probably benign	Het
Olfr829	A	T	9: 18,857,566	I305F	probably benign	Het
Parp14	T	A	16: 35,857,327	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,754,664	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,573,952	S849P	probably benign	Het
Pds5a	T	C	5: 65,644,120	K595E	probably damaging	Het
Prkg2	T	A	5: 99,024,709	Y49F	probably benign	Het
Ptgdr	G	T	14: 44,858,796	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805	S555P	probably damaging	Het
Rhog	T	G	7: 102,240,150	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,816,768	T209A	probably damaging	Het
Rtkn2	T	C	10: 68,001,927	I103T	probably damaging	Het
Scn5a	G	T	9: 119,550,671	C182*	probably null	Het
Sema3a	A	G	5: 13,451,241	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,290	M158I	possibly damaging	Het
Shprh	T	A	10: 11,164,557	D71E	probably benign	Het
Slc26a8	A	G	17: 28,663,634	I239T	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Ston1	C	T	17: 88,635,694	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,624,051	S3P	probably benign	Het
Tango6	T	A	8: 106,818,526	V1007E	probably damaging	Het
Tas2r124	A	G	6: 132,755,193	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,235,821	R2244W	probably damaging	Het
Tlk1	A	T	2: 70,721,571	Y585*	probably null	Het
Tmem221	C	T	8: 71,555,140	E214K	probably benign	Het
Tmem38a	T	C	8: 72,581,233	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,448,677	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,454,515	A1268T	probably damaging	Het
Usp25	T	A	16: 77,050,467	D154E	probably damaging	Het
Usp34	T	C	11: 23,451,999	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,350,014	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,956,436	C32W	probably damaging	Het
Zfp931	T	A	2: 178,068,062	H177L	probably damaging	Het
Znrf1	T	C	8: 111,537,566		probably null	Het

Other mutations in Tank

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02994:Tank	APN	2	61650292	splice site	probably benign
malade	UTSW	2	61644424	critical splice donor site	probably null
R1620:Tank	UTSW	2	61650098	missense	possibly damaging	0.92
R1671:Tank	UTSW	2	61649753	missense	probably damaging	0.99
R1862:Tank	UTSW	2	61649912	missense	probably damaging	1.00
R3918:Tank	UTSW	2	61643786	critical splice donor site	probably null
R4714:Tank	UTSW	2	61650229	missense	probably benign	0.01
R4727:Tank	UTSW	2	61653532	missense	probably benign	0.05
R4865:Tank	UTSW	2	61578635	start gained	probably benign
R5023:Tank	UTSW	2	61578635	start gained	probably benign
R5213:Tank	UTSW	2	61649948	missense	probably benign	0.01
R5562:Tank	UTSW	2	61650208	missense	possibly damaging	0.59
R5950:Tank	UTSW	2	61653569	utr 3 prime	probably benign
R6221:Tank	UTSW	2	61650083	missense	probably damaging	1.00
R6626:Tank	UTSW	2	61650296	splice site	probably benign
R6670:Tank	UTSW	2	61644424	critical splice donor site	probably null
R6850:Tank	UTSW	2	61650002	missense	probably benign	0.19
R7027:Tank	UTSW	2	61653422	missense	probably benign	0.00
R7478:Tank	UTSW	2	61650169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACGGGTGGTTTCAGAAC -3'
(R):5'- TTCTAACCCTGATGCGGATG -3'

Sequencing Primer
(F):5'- CACGGGTGGTTTCAGAACATTTTC -3'
(R):5'- CCTGATGCGGATGCCAAAG -3'

Posted On

2016-03-17