Mutagenetix > Incidental Mutation

Incidental Mutation 'R7027:Tank'

546014

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

045128-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61408929-61484515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61483766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 404 (V404A)

Ref Sequence

ENSEMBL: ENSMUSP00000108121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078074] [ENSMUST00000112494] [ENSMUST00000112495] [ENSMUST00000112501] [ENSMUST00000112502]

AlphaFold

P70347

Predicted Effect

probably benign
Transcript: ENSMUST00000078074
AA Change: V405A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289
AA Change: V405A

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: ENSMUST00000112494

SMART Domains

Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289

Domain	Start	End	E-Value	Type
coiled coil region	22	63	N/A	INTRINSIC
Pfam:TBD	128	184	5.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112495
AA Change: V370A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289
AA Change: V370A

Domain	Start	End	E-Value	Type
coiled coil region	22	63	N/A	INTRINSIC
Pfam:TBD	128	184	1.3e-33	PFAM
ZnF_C2H2	382	408	1.81e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112501
AA Change: V371A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289
AA Change: V371A

Domain	Start	End	E-Value	Type
coiled coil region	26	64	N/A	INTRINSIC
Pfam:TBD	129	185	1.3e-33	PFAM
ZnF_C2H2	383	409	1.81e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112502
AA Change: V404A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289
AA Change: V404A

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

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	T	2: 127,852,003 (GRCm39)	M102L	probably benign	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Agap1	A	G	1: 89,816,444 (GRCm39)	H748R	probably benign	Het
Ahsg	T	C	16: 22,711,007 (GRCm39)	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,311,951 (GRCm39)	T394A	probably benign	Het
Apc	T	G	18: 34,445,129 (GRCm39)	V657G	probably damaging	Het
Arl2	T	C	19: 6,191,119 (GRCm39)	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,729,180 (GRCm39)	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,588,740 (GRCm39)	S320T	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
BC107364	T	G	3: 96,348,057 (GRCm39)	R77S	unknown	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccrl2	T	C	9: 110,884,953 (GRCm39)	K182E	probably benign	Het
Cd19	A	G	7: 126,009,671 (GRCm39)	V465A	possibly damaging	Het
Chrdl2	A	T	7: 99,671,240 (GRCm39)	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063 (GRCm39)	P376S	probably benign	Het
Cobll1	A	G	2: 64,919,847 (GRCm39)	S1194P	probably benign	Het
Col6a4	T	C	9: 105,944,213 (GRCm39)	Y1087C	probably damaging	Het
Col9a2	G	A	4: 120,901,216 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,763,289 (GRCm39)	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,670,665 (GRCm39)	Y529F	probably benign	Het
Eif3b	C	T	5: 140,411,043 (GRCm39)	R165W	probably damaging	Het
Erlec1	C	A	11: 30,900,790 (GRCm39)	C126F	probably damaging	Het
Fads2b	A	G	2: 85,315,871 (GRCm39)	Y440H	probably damaging	Het
Fat2	T	C	11: 55,160,259 (GRCm39)	T3285A	probably benign	Het
Fat2	G	A	11: 55,172,677 (GRCm39)	R2679*	probably null	Het
Fbxo31	T	C	8: 122,305,224 (GRCm39)	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,631,037 (GRCm39)	Y243H	probably damaging	Het
Flcn	C	T	11: 59,686,632 (GRCm39)	V374M	probably damaging	Het
Fndc5	A	G	4: 129,033,316 (GRCm39)	M128V	probably benign	Het
Gal3st1	A	G	11: 3,949,002 (GRCm39)	D403G	probably damaging	Het
Garem1	T	C	18: 21,263,051 (GRCm39)	N588D	probably benign	Het
Gas1	T	C	13: 60,324,047 (GRCm39)	T196A	probably damaging	Het
Gcn1	T	C	5: 115,754,605 (GRCm39)		probably null	Het
Gprc5d	T	G	6: 135,093,646 (GRCm39)	Q87P	probably damaging	Het
Grm1	A	G	10: 10,595,339 (GRCm39)	L763P	probably damaging	Het
Hivep2	G	T	10: 14,025,321 (GRCm39)	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,025,322 (GRCm39)	D2379Y	probably damaging	Het
Itgad	A	G	7: 127,782,161 (GRCm39)	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,834,206 (GRCm39)	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,453,997 (GRCm39)	S128G	probably benign	Het
Map3k9	T	C	12: 81,777,398 (GRCm39)	T528A	probably benign	Het
Mmp11	G	A	10: 75,768,230 (GRCm39)		probably benign	Het
Mycbpap	T	A	11: 94,405,440 (GRCm39)	I30F	probably damaging	Het
Nfya	T	C	17: 48,696,340 (GRCm39)	T335A	probably benign	Het
Npat	T	A	9: 53,481,216 (GRCm39)	S1008T	possibly damaging	Het
Or10al5	G	A	17: 38,063,300 (GRCm39)	C185Y	probably damaging	Het
Or12e10	A	G	2: 87,641,060 (GRCm39)	T299A	possibly damaging	Het
Or5p69	A	T	7: 107,967,557 (GRCm39)	M287L	probably damaging	Het
Or6c219	C	T	10: 129,781,041 (GRCm39)	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,052,766 (GRCm39)	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,164 (GRCm39)	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,854,415 (GRCm39)	D270G	probably damaging	Het
Pde2a	A	C	7: 101,160,804 (GRCm39)	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,198,431 (GRCm39)	D873G	probably benign	Het
Pno1	A	T	11: 17,158,880 (GRCm39)	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,004,160 (GRCm39)	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,210,267 (GRCm39)		probably benign	Het
Psma5	A	G	3: 108,172,484 (GRCm39)	I67V	probably benign	Het
Reep6	G	A	10: 80,169,799 (GRCm39)		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,557,848 (GRCm39)		probably benign	Het
Scyl2	C	G	10: 89,481,323 (GRCm39)		probably null	Het
Sdk1	T	A	5: 142,082,481 (GRCm39)		probably null	Het
Senp5	C	A	16: 31,808,113 (GRCm39)	K380N	probably benign	Het
Slc22a14	A	T	9: 119,060,281 (GRCm39)		probably null	Het
Slc26a5	T	A	5: 22,021,972 (GRCm39)	T485S	possibly damaging	Het
Slc44a5	T	C	3: 153,959,356 (GRCm39)	I349T	probably benign	Het
Smarca5	T	C	8: 81,463,355 (GRCm39)	E71G	probably benign	Het
Smok2a	A	T	17: 13,444,666 (GRCm39)	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,059,192 (GRCm39)	D388G	probably benign	Het
Tek	A	G	4: 94,753,747 (GRCm39)	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,887,150 (GRCm39)	C16Y	probably benign	Het
Tmc1	A	G	19: 20,918,267 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,902,826 (GRCm39)	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,575,958 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,624,444 (GRCm39)	S919T	probably damaging	Het
Trim17	C	A	11: 58,859,442 (GRCm39)	Q219K	probably benign	Het
Trim5	T	A	7: 103,914,875 (GRCm39)	H389L	probably benign	Het
Trio	T	A	15: 27,805,740 (GRCm39)	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,120,258 (GRCm39)	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,219,441 (GRCm39)	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Vmn2r50	T	A	7: 9,781,539 (GRCm39)	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,533,548 (GRCm39)	A484E	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wdr36	T	A	18: 32,974,958 (GRCm39)	H103Q	probably benign	Het
Zfp534	G	A	4: 147,759,667 (GRCm39)	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,820,372 (GRCm39)	S897N	probably benign	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
R4867: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
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'- ACTCTGGAAAAGAAATCTGCTTTCG -3'
(R):5'- ATTTGGCTCACGAGAAAGCG -3'

Sequencing Primer
(F):5'- TCTGCTTTCGAATTAGAGAATTTCAG -3'
(R):5'- GAAAGCGTTCTCTAGCGTTAC -3'

Posted On

2019-05-13