Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Tbk1'

502248

Institutional Source

Beutler Lab

Gene Symbol

Tbk1

Ensembl Gene

ENSMUSG00000020115

Gene Name

TANK-binding kinase 1

Synonyms

1200008B05Rik

MMRRC Submission

044327-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121382360-121422692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121420148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 14 (I14V)

Ref Sequence

ENSEMBL: ENSMUSP00000151440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020316] [ENSMUST00000039810] [ENSMUST00000218004] [ENSMUST00000219400] [ENSMUST00000219493]

AlphaFold

Q9WUN2

Predicted Effect

probably benign
Transcript: ENSMUST00000020316
AA Change: I14V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: I14V

Domain	Start	End	E-Value	Type
Pfam:Pkinase	9	300	2.6e-46	PFAM
Pfam:Pkinase_Tyr	10	250	1.5e-27	PFAM
low complexity region	355	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039810

SMART Domains

Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667

Domain	Start	End	E-Value	Type
IBN_N	21	89	1.37e-3	SMART
Pfam:Xpo1	98	248	5.1e-42	PFAM
low complexity region	386	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218004

Predicted Effect

probably benign
Transcript: ENSMUST00000219400
AA Change: I14V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000219493

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Targeted(5) Gene trapped(18)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,729,377 (GRCm39)	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,193,182 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,322,158 (GRCm39)	I914F	probably benign	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,581,497 (GRCm39)	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872 (GRCm39)	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (GRCm39)		probably benign	Het

Other mutations in Tbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Tbk1	APN	10	121,388,155 (GRCm39)	missense	probably benign	0.00
IGL01021:Tbk1	APN	10	121,387,177 (GRCm39)	missense	probably benign	0.07
IGL01371:Tbk1	APN	10	121,395,776 (GRCm39)	missense	probably benign	0.09
IGL01383:Tbk1	APN	10	121,412,184 (GRCm39)	missense	probably damaging	1.00
IGL01583:Tbk1	APN	10	121,393,134 (GRCm39)	missense	probably benign
IGL01734:Tbk1	APN	10	121,407,888 (GRCm39)	nonsense	probably null
IGL02068:Tbk1	APN	10	121,406,694 (GRCm39)	missense	probably damaging	1.00
IGL02676:Tbk1	APN	10	121,403,985 (GRCm39)	missense	possibly damaging	0.82
IGL02737:Tbk1	APN	10	121,395,767 (GRCm39)	missense	probably null	0.96
IGL03334:Tbk1	APN	10	121,420,104 (GRCm39)	missense	possibly damaging	0.79
Pathfinder	UTSW	10	121,388,406 (GRCm39)	missense	probably damaging	0.98
pioneer	UTSW	10	121,414,595 (GRCm39)	missense	probably damaging	1.00
trailblazer	UTSW	10	121,406,590 (GRCm39)	missense	probably damaging	1.00
BB006:Tbk1	UTSW	10	121,393,138 (GRCm39)	missense	probably benign	0.00
BB016:Tbk1	UTSW	10	121,393,138 (GRCm39)	missense	probably benign	0.00
R0030:Tbk1	UTSW	10	121,397,529 (GRCm39)	missense	probably benign	0.09
R0386:Tbk1	UTSW	10	121,420,159 (GRCm39)	missense	probably damaging	0.96
R1396:Tbk1	UTSW	10	121,407,821 (GRCm39)	missense	probably damaging	1.00
R1430:Tbk1	UTSW	10	121,395,839 (GRCm39)	missense	probably benign
R1522:Tbk1	UTSW	10	121,387,223 (GRCm39)	missense	probably benign	0.06
R1542:Tbk1	UTSW	10	121,395,840 (GRCm39)	missense	probably benign
R1717:Tbk1	UTSW	10	121,397,550 (GRCm39)	missense	probably benign	0.10
R1860:Tbk1	UTSW	10	121,383,076 (GRCm39)	missense	probably benign	0.01
R2188:Tbk1	UTSW	10	121,399,836 (GRCm39)	nonsense	probably null
R2519:Tbk1	UTSW	10	121,393,164 (GRCm39)	missense	probably benign	0.03
R4627:Tbk1	UTSW	10	121,403,985 (GRCm39)	missense	possibly damaging	0.82
R4945:Tbk1	UTSW	10	121,387,174 (GRCm39)	missense	probably damaging	0.98
R5061:Tbk1	UTSW	10	121,412,241 (GRCm39)	missense	possibly damaging	0.62
R5256:Tbk1	UTSW	10	121,406,590 (GRCm39)	missense	probably damaging	1.00
R5310:Tbk1	UTSW	10	121,391,956 (GRCm39)	missense	probably benign	0.00
R6425:Tbk1	UTSW	10	121,399,867 (GRCm39)	missense	probably benign	0.00
R6512:Tbk1	UTSW	10	121,414,526 (GRCm39)	missense	probably damaging	1.00
R6897:Tbk1	UTSW	10	121,395,782 (GRCm39)	missense	probably benign	0.00
R7268:Tbk1	UTSW	10	121,388,404 (GRCm39)	missense	probably benign	0.03
R7609:Tbk1	UTSW	10	121,388,406 (GRCm39)	missense	probably damaging	0.98
R7860:Tbk1	UTSW	10	121,388,151 (GRCm39)	missense	possibly damaging	0.55
R7929:Tbk1	UTSW	10	121,393,138 (GRCm39)	missense	probably benign	0.00
R8378:Tbk1	UTSW	10	121,414,597 (GRCm39)	missense	probably damaging	0.96
R9680:Tbk1	UTSW	10	121,389,841 (GRCm39)	missense	probably benign	0.00
X0022:Tbk1	UTSW	10	121,396,198 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTAGGTAGGTGTTCACCG -3'
(R):5'- TCTCCAGAGCGGAACAAGAATG -3'

Sequencing Primer
(F):5'- GGTGTTCACCGCCCCAAAAC -3'
(R):5'- GCTGGGAACATACTGCATTTCAGTC -3'

Posted On

2018-02-27