Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61408929-61484515 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 61408979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108121 (fasta)

Gene Model

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

AlphaFold

P70347

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: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	Het

Other mutations in Tank

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02994:Tank	APN	2	61,480,636 (GRCm39)	splice site	probably benign
malade	UTSW	2	61,474,768 (GRCm39)	critical splice donor site	probably null
marmalade	UTSW	2	61,483,766 (GRCm39)	missense	probably benign	0.00
R1620:Tank	UTSW	2	61,480,442 (GRCm39)	missense	possibly damaging	0.92
R1671:Tank	UTSW	2	61,480,097 (GRCm39)	missense	probably damaging	0.99
R1862:Tank	UTSW	2	61,480,256 (GRCm39)	missense	probably damaging	1.00
R3918:Tank	UTSW	2	61,474,130 (GRCm39)	critical splice donor site	probably null
R4714:Tank	UTSW	2	61,480,573 (GRCm39)	missense	probably benign	0.01
R4727:Tank	UTSW	2	61,483,876 (GRCm39)	missense	probably benign	0.05
R4865:Tank	UTSW	2	61,408,979 (GRCm39)	start gained	probably benign
R5023:Tank	UTSW	2	61,408,979 (GRCm39)	start gained	probably benign
R5213:Tank	UTSW	2	61,480,292 (GRCm39)	missense	probably benign	0.01
R5562:Tank	UTSW	2	61,480,552 (GRCm39)	missense	possibly damaging	0.59
R5950:Tank	UTSW	2	61,483,913 (GRCm39)	utr 3 prime	probably benign
R6221:Tank	UTSW	2	61,480,427 (GRCm39)	missense	probably damaging	1.00
R6626:Tank	UTSW	2	61,480,640 (GRCm39)	splice site	probably benign
R6670:Tank	UTSW	2	61,474,768 (GRCm39)	critical splice donor site	probably null
R6850:Tank	UTSW	2	61,480,346 (GRCm39)	missense	probably benign	0.19
R7027:Tank	UTSW	2	61,483,766 (GRCm39)	missense	probably benign	0.00
R7478:Tank	UTSW	2	61,480,513 (GRCm39)	missense	probably damaging	1.00
R8293:Tank	UTSW	2	61,474,758 (GRCm39)	missense	possibly damaging	0.62
R8678:Tank	UTSW	2	61,457,287 (GRCm39)	missense	probably damaging	0.99
R8866:Tank	UTSW	2	61,409,005 (GRCm39)	missense	probably benign	0.23
R9162:Tank	UTSW	2	61,480,432 (GRCm39)	missense	possibly damaging	0.59
R9628:Tank	UTSW	2	61,483,876 (GRCm39)	missense	probably benign	0.05

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