Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Tbkbp1'

503218

Institutional Source

Beutler Lab

Gene Symbol

Tbkbp1

Ensembl Gene

ENSMUSG00000038517

Gene Name

TBK1 binding protein 1

Synonyms

3110043L15Rik

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97026997-97042321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97037165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 278 (E278G)

Ref Sequence

ENSEMBL: ENSMUSP00000112396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066078] [ENSMUST00000107613] [ENSMUST00000107614] [ENSMUST00000107615] [ENSMUST00000118375] [ENSMUST00000146374]

AlphaFold

A2A9T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000066078
AA Change: E279G

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

SMART Domains

Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: E279G

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

probably damaging
Transcript: ENSMUST00000107614
AA Change: E279G

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

SMART Domains

Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: E279G

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

probably damaging
Transcript: ENSMUST00000107615
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: E278G

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

probably damaging
Transcript: ENSMUST00000118375
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: E278G

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

probably benign
Transcript: ENSMUST00000146374

SMART Domains

Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
coiled coil region	47	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183796

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Abca15	A	G	7: 119,973,017 (GRCm39)	R864G	probably benign	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cep85l	T	C	10: 53,157,651 (GRCm39)	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dot1l	C	T	10: 80,622,277 (GRCm39)	A831V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
Krt39	G	T	11: 99,412,041 (GRCm39)	P15Q	probably damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,213,265 (GRCm39)	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Tulp1	A	T	17: 28,577,651 (GRCm39)		probably benign	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (GRCm39)		probably benign	Het

Other mutations in Tbkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Tbkbp1	APN	11	97,028,474 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GATTCAGACTACTTCAGAGTCCC -3'
(R):5'- CGGAATGCGAGAGACTTCAG -3'

Sequencing Primer
(F):5'- GTAAGCAACCCAGGCGC -3'
(R):5'- CTTCAGGGAGAGCTGAAGC -3'

Posted On

2018-02-27