Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Tank'

503995

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

044432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61408929-61484515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61480427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 321 (E321G)

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: E322G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289
AA Change: E322G

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: E287G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289
AA Change: E287G

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: E287G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289
AA Change: E287G

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: E288G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289
AA Change: E288G

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: E321G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289
AA Change: E321G

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: ENSMUST00000154693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143515

Meta Mutation Damage Score

0.2783

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181 (GRCm39)	L369F	possibly damaging	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppara	A	G	15: 85,661,881 (GRCm39)	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smc3	T	A	19: 53,630,362 (GRCm39)	V1123E	probably damaging	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	probably damaging	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
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'- ATAGAGGTATGTCGTGCGTCAC -3'
(R):5'- ACAGCCTTTCCTGGGGAATC -3'

Sequencing Primer
(F):5'- CTGTCACACCAAGAGGACTGG -3'
(R):5'- TCCAGTGAGGGAAAAGGTGC -3'

Posted On

2018-02-28