Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Tank'

203992

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

039885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61578585-61654171 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61649912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 264 (F264S)

Ref Sequence

ENSEMBL: ENSMUSP00000108121 (fasta)

Gene Model

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

AlphaFold

P70347

Predicted Effect

probably damaging
Transcript: ENSMUST00000078074
AA Change: F265S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289
AA Change: F265S

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 damaging
Transcript: ENSMUST00000112494
AA Change: F230S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289
AA Change: F230S

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 damaging
Transcript: ENSMUST00000112495
AA Change: F230S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289
AA Change: F230S

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 damaging
Transcript: ENSMUST00000112501
AA Change: F231S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289
AA Change: F231S

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 damaging
Transcript: ENSMUST00000112502
AA Change: F264S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289
AA Change: F264S

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: ENSMUST00000141544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154693

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,162,113 (GRCm38)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,749,852 (GRCm38)		probably null	Het
Cacna1a	A	T	8: 84,415,930 (GRCm38)	I96F	possibly damaging	Het
Card10	G	A	15: 78,780,514 (GRCm38)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,190,394 (GRCm38)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941 (GRCm38)	Y685H	probably damaging	Het
Cmklr1	T	C	5: 113,614,407 (GRCm38)	T178A	probably damaging	Het
Col16a1	G	A	4: 130,092,782 (GRCm38)		probably null	Het
Col4a1	C	T	8: 11,226,439 (GRCm38)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm38)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566 (GRCm38)	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974 (GRCm38)	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561 (GRCm38)	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986 (GRCm38)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,697,398 (GRCm38)	D147G	probably benign	Het
Dnah12	A	T	14: 26,709,257 (GRCm38)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,783,539 (GRCm38)	R193L	probably damaging	Het
Dupd1	A	G	14: 21,686,689 (GRCm38)	V115A	probably benign	Het
Esd	A	C	14: 74,742,074 (GRCm38)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439 (GRCm38)		probably benign	Het
Etfbkmt	T	A	6: 149,144,151 (GRCm38)	M1K	probably null	Het
Exph5	A	G	9: 53,376,248 (GRCm38)	H1543R	probably benign	Het
Fam92a	C	T	4: 12,155,717 (GRCm38)	V306I	possibly damaging	Het
Fbxo16	A	G	14: 65,270,803 (GRCm38)	T23A	probably damaging	Het
Gm11492	A	G	11: 87,567,235 (GRCm38)	H145R	possibly damaging	Het
Gm6614	T	C	6: 142,003,423 (GRCm38)	M76V	possibly damaging	Het
Gorasp2	C	A	2: 70,679,464 (GRCm38)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933 (GRCm38)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900 (GRCm38)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124 (GRCm38)	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883 (GRCm38)	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413 (GRCm38)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754 (GRCm38)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330 (GRCm38)	V259D	probably damaging	Het
Lipo1	A	G	19: 33,784,692 (GRCm38)	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203 (GRCm38)		probably null	Het
Mapk1	T	A	16: 17,026,429 (GRCm38)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921 (GRCm38)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969 (GRCm38)	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361 (GRCm38)	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221 (GRCm38)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988 (GRCm38)	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048 (GRCm38)	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187 (GRCm38)		probably null	Het
Noc2l	A	G	4: 156,237,708 (GRCm38)	R161G	probably benign	Het
Nup54	T	A	5: 92,419,567 (GRCm38)	I375L	possibly damaging	Het
Nup93	T	C	8: 94,306,102 (GRCm38)	F539L	probably damaging	Het
Olfr138	A	G	17: 38,275,344 (GRCm38)	E191G	probably damaging	Het
Olfr417	T	A	1: 174,369,452 (GRCm38)	H178Q	probably damaging	Het
Olfr480	A	C	7: 108,066,725 (GRCm38)	Y24*	probably null	Het
Olfr874	T	A	9: 37,746,968 (GRCm38)	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428 (GRCm38)	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184 (GRCm38)	V170D	possibly damaging	Het
Pcnx	T	C	12: 81,918,732 (GRCm38)	S558P	probably damaging	Het
Pde3a	T	A	6: 141,250,353 (GRCm38)	I255N	probably damaging	Het
Pde3a	G	T	6: 141,487,513 (GRCm38)	A757S	probably damaging	Het
Pdzph1	A	G	17: 58,922,583 (GRCm38)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020 (GRCm38)	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203 (GRCm38)	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669 (GRCm38)	D60V	probably damaging	Het
Ptprc	T	C	1: 138,112,227 (GRCm38)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209 (GRCm38)	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089 (GRCm38)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm38)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942 (GRCm38)	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,147,613 (GRCm38)	S241P	unknown	Het
Srpk2	T	C	5: 23,524,150 (GRCm38)	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006 (GRCm38)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883 (GRCm38)	V168A	probably benign	Het
Ticrr	T	C	7: 79,695,207 (GRCm38)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,411,198 (GRCm38)	V457A	probably damaging	Het
Trim43b	T	A	9: 89,085,571 (GRCm38)	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137 (GRCm38)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023 (GRCm38)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm38)	S231P	probably benign	Het
Vit	A	G	17: 78,622,746 (GRCm38)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521 (GRCm38)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406 (GRCm38)	C131Y	possibly damaging	Het
Zadh2	T	C	18: 84,095,318 (GRCm38)	V373A	possibly damaging	Het
Zfp58	A	T	13: 67,491,188 (GRCm38)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010 (GRCm38)	G491C	probably damaging	Het

Other mutations in Tank

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02994:Tank	APN	2	61,650,292 (GRCm38)	splice site	probably benign
malade	UTSW	2	61,644,424 (GRCm38)	critical splice donor site	probably null
marmalade	UTSW	2	61,653,422 (GRCm38)	missense	probably benign	0.00
R1620:Tank	UTSW	2	61,650,098 (GRCm38)	missense	possibly damaging	0.92
R1671:Tank	UTSW	2	61,649,753 (GRCm38)	missense	probably damaging	0.99
R3918:Tank	UTSW	2	61,643,786 (GRCm38)	critical splice donor site	probably null
R4714:Tank	UTSW	2	61,650,229 (GRCm38)	missense	probably benign	0.01
R4727:Tank	UTSW	2	61,653,532 (GRCm38)	missense	probably benign	0.05
R4865:Tank	UTSW	2	61,578,635 (GRCm38)	start gained	probably benign
R4867:Tank	UTSW	2	61,578,635 (GRCm38)	start gained	probably benign
R5023:Tank	UTSW	2	61,578,635 (GRCm38)	start gained	probably benign
R5213:Tank	UTSW	2	61,649,948 (GRCm38)	missense	probably benign	0.01
R5562:Tank	UTSW	2	61,650,208 (GRCm38)	missense	possibly damaging	0.59
R5950:Tank	UTSW	2	61,653,569 (GRCm38)	utr 3 prime	probably benign
R6221:Tank	UTSW	2	61,650,083 (GRCm38)	missense	probably damaging	1.00
R6626:Tank	UTSW	2	61,650,296 (GRCm38)	splice site	probably benign
R6670:Tank	UTSW	2	61,644,424 (GRCm38)	critical splice donor site	probably null
R6850:Tank	UTSW	2	61,650,002 (GRCm38)	missense	probably benign	0.19
R7027:Tank	UTSW	2	61,653,422 (GRCm38)	missense	probably benign	0.00
R7478:Tank	UTSW	2	61,650,169 (GRCm38)	missense	probably damaging	1.00
R8293:Tank	UTSW	2	61,644,414 (GRCm38)	missense	possibly damaging	0.62
R8678:Tank	UTSW	2	61,626,943 (GRCm38)	missense	probably damaging	0.99
R8866:Tank	UTSW	2	61,578,661 (GRCm38)	missense	probably benign	0.23
R9162:Tank	UTSW	2	61,650,088 (GRCm38)	missense	possibly damaging	0.59
R9628:Tank	UTSW	2	61,653,532 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTGTTCTGTGCCTATACAGTG -3'
(R):5'- ACGTCGCTCTAAGATTTGAGGG -3'

Sequencing Primer
(F):5'- TCTGTGCCTATACAGTGTACTG -3'
(R):5'- AGCTGAAGTTATGGGGTCAATTCCC -3'

Posted On

2014-06-23