Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Tbkbp1'

6028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbkbp1

Ensembl Gene

ENSMUSG00000038517

Gene Name

TBK1 binding protein 1

Synonyms

3110043L15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

97026997-97042321 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 97028474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066078] [ENSMUST00000107613] [ENSMUST00000107614] [ENSMUST00000107615] [ENSMUST00000118375]

AlphaFold

A2A9T0

Predicted Effect

unknown
Transcript: ENSMUST00000066078
AA Change: I579F

SMART Domains

Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: I579F

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	218	278	N/A	INTRINSIC
Pfam:TBD	287	342	2.8e-24	PFAM
low complexity region	343	432	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107613

SMART Domains

Protein: ENSMUSP00000103238
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	152	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000107614
AA Change: I579F

SMART Domains

Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: I579F

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	218	278	N/A	INTRINSIC
Pfam:TBD	289	343	4.1e-21	PFAM
low complexity region	460	477	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000107615
AA Change: I578F

SMART Domains

Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: I578F

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	217	277	N/A	INTRINSIC
Pfam:TBD	286	341	4e-25	PFAM
low complexity region	342	431	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000118375
AA Change: I578F

SMART Domains

Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: I578F

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	156	N/A	INTRINSIC
low complexity region	168	173	N/A	INTRINSIC
low complexity region	178	194	N/A	INTRINSIC
coiled coil region	217	277	N/A	INTRINSIC
Pfam:TBD	286	341	4e-25	PFAM
low complexity region	342	431	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC
low complexity region	551	561	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal GM-CSF-derived bone marrow-derived dendritic cell differentiation and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsb	T	G	13: 94,075,787 (GRCm39)	H423Q	probably benign	Het
Bltp2	T	A	11: 78,160,400 (GRCm39)	L620I	possibly damaging	Het
Ces1f	T	C	8: 93,994,620 (GRCm39)	T264A	probably benign	Het
Clcn6	C	A	4: 148,102,359 (GRCm39)		probably null	Het
Cyb5r3	C	A	15: 83,044,605 (GRCm39)	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,307,834 (GRCm39)	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,113,559 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,821,566 (GRCm39)	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,595,488 (GRCm39)	D436G	probably damaging	Het
Drd4	A	G	7: 140,872,096 (GRCm39)	N49S	probably damaging	Het
Dst	T	A	1: 34,205,373 (GRCm39)	V521D	probably damaging	Het
Eif5b	T	C	1: 38,080,800 (GRCm39)	S714P	probably damaging	Het
Glis3	A	G	19: 28,517,664 (GRCm39)	I178T	probably damaging	Het
Gm11565	T	A	11: 99,806,021 (GRCm39)	C138S	possibly damaging	Het
H1f8	T	A	6: 115,924,588 (GRCm39)		probably benign	Het
Hdx	T	A	X: 110,492,578 (GRCm39)	I623F	probably benign	Het
Huwe1	T	G	X: 150,668,623 (GRCm39)	L843V	probably damaging	Het
Hyal2	T	C	9: 107,447,604 (GRCm39)	Y86H	probably damaging	Het
Irf7	A	T	7: 140,844,553 (GRCm39)	S157T	probably benign	Het
Jmjd4	T	A	11: 59,346,140 (GRCm39)	M331K	probably damaging	Het
Kdm2a	A	T	19: 4,406,926 (GRCm39)	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,356,138 (GRCm39)	Y103*	probably null	Het
Map2k3	T	C	11: 60,834,041 (GRCm39)	V77A	possibly damaging	Het
Mideas	G	A	12: 84,219,629 (GRCm39)	R442*	probably null	Het
Mprip	T	A	11: 59,639,417 (GRCm39)	D403E	probably benign	Het
Mutyh	T	A	4: 116,676,516 (GRCm39)	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,321,042 (GRCm39)	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,367,262 (GRCm39)	L2575P	probably damaging	Het
Or10j5	T	G	1: 172,785,158 (GRCm39)	S265R	possibly damaging	Het
Or51a6	T	C	7: 102,604,311 (GRCm39)	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,467,277 (GRCm39)	I66N	probably damaging	Het
Pck2	T	C	14: 55,780,098 (GRCm39)	Y89H	probably benign	Het
Poglut3	T	A	9: 53,309,330 (GRCm39)		probably benign	Het
Poglut3	C	A	9: 53,309,328 (GRCm39)		probably benign	Het
Polr3e	C	T	7: 120,540,034 (GRCm39)	Q594*	probably null	Het
Ptpro	T	G	6: 137,371,907 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,615,917 (GRCm39)	K28E	possibly damaging	Het
Shox2	T	C	3: 66,888,774 (GRCm39)	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,449,930 (GRCm39)	D122V	probably benign	Het
Smr3a	A	C	5: 88,155,919 (GRCm39)		probably benign	Het
Spmip8	G	A	8: 96,039,676 (GRCm39)	R31H	probably damaging	Het
Taf4	G	T	2: 179,618,418 (GRCm39)	L8M	unknown	Het
Tmem120b	G	T	5: 123,253,230 (GRCm39)	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,253,229 (GRCm39)		probably null	Het
Trim21	C	T	7: 102,208,805 (GRCm39)	V305M	probably damaging	Het
Ube4a	A	T	9: 44,859,439 (GRCm39)	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,621,572 (GRCm39)	N274K	probably benign	Het

Other mutations in Tbkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Tbkbp1	APN	11	97,040,388 (GRCm39)	missense	probably damaging	0.99
R0017:Tbkbp1	UTSW	11	97,037,115 (GRCm39)	unclassified	probably benign
R0445:Tbkbp1	UTSW	11	97,040,295 (GRCm39)	missense	probably damaging	1.00
R1468:Tbkbp1	UTSW	11	97,039,814 (GRCm39)	missense	probably damaging	1.00
R1468:Tbkbp1	UTSW	11	97,039,814 (GRCm39)	missense	probably damaging	1.00
R4198:Tbkbp1	UTSW	11	97,039,894 (GRCm39)	critical splice acceptor site	probably null
R4737:Tbkbp1	UTSW	11	97,039,474 (GRCm39)	missense	probably damaging	1.00
R4816:Tbkbp1	UTSW	11	97,029,567 (GRCm39)	missense	probably benign	0.23
R4910:Tbkbp1	UTSW	11	97,029,956 (GRCm39)	missense	probably benign	0.23
R4947:Tbkbp1	UTSW	11	97,029,770 (GRCm39)	utr 3 prime	probably benign
R5571:Tbkbp1	UTSW	11	97,039,555 (GRCm39)	missense	probably damaging	1.00
R6083:Tbkbp1	UTSW	11	97,038,206 (GRCm39)	missense	probably damaging	1.00
R6207:Tbkbp1	UTSW	11	97,037,165 (GRCm39)	missense	probably damaging	1.00
R6595:Tbkbp1	UTSW	11	97,029,578 (GRCm39)	utr 3 prime	probably benign
R7678:Tbkbp1	UTSW	11	97,040,309 (GRCm39)	missense	probably damaging	1.00
R7684:Tbkbp1	UTSW	11	97,038,559 (GRCm39)	unclassified	probably benign
R8425:Tbkbp1	UTSW	11	97,029,677 (GRCm39)	missense	unknown
R8495:Tbkbp1	UTSW	11	97,037,429 (GRCm39)	missense	probably benign	0.04
R8900:Tbkbp1	UTSW	11	97,040,327 (GRCm39)	missense	probably benign	0.00
R8964:Tbkbp1	UTSW	11	97,037,169 (GRCm39)	missense	probably damaging	1.00
R9006:Tbkbp1	UTSW	11	97,029,707 (GRCm39)	missense	unknown
X0020:Tbkbp1	UTSW	11	97,039,800 (GRCm39)	missense	probably damaging	0.99
Z1176:Tbkbp1	UTSW	11	97,040,354 (GRCm39)	missense	possibly damaging	0.84

Posted On

2012-04-20