Mutagenetix > Incidental Mutation

Incidental Mutation 'R9006:Tbkbp1'

685317

Institutional Source

Beutler Lab

Gene Symbol

Tbkbp1

Ensembl Gene

ENSMUSG00000038517

Gene Name

TBK1 binding protein 1

Synonyms

3110043L15Rik

MMRRC Submission

068836-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9006 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

97026997-97042321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97029707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 483 (T483I)

Ref Sequence

ENSEMBL: ENSMUSP00000065461 (fasta)

Gene Model

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

AlphaFold

A2A9T0

Predicted Effect

unknown
Transcript: ENSMUST00000066078
AA Change: T483I

SMART Domains

Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: T483I

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: T483I

SMART Domains

Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: T483I

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: T482I

SMART Domains

Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: T482I

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: T482I

SMART Domains

Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: T482I

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,665,820 (GRCm39)	N267D	probably benign	Het
Akap1	A	T	11: 88,723,996 (GRCm39)	M803K	possibly damaging	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Ankrd31	T	C	13: 96,967,104 (GRCm39)	F528L	probably benign	Het
Arhgef10l	A	G	4: 140,271,659 (GRCm39)	Y624H	probably benign	Het
Bltp2	T	C	11: 78,164,345 (GRCm39)	F1182L	possibly damaging	Het
Cfap73	G	A	5: 120,767,760 (GRCm39)	Q264*	probably null	Het
Clca3a2	C	A	3: 144,783,789 (GRCm39)	A609S	probably damaging	Het
Cntfr	A	T	4: 41,661,971 (GRCm39)		probably null	Het
Cyp2c65	C	T	19: 39,070,714 (GRCm39)	T299I	probably damaging	Het
Cyp2j5	G	T	4: 96,552,149 (GRCm39)	N33K	probably benign	Het
Dhcr7	T	A	7: 143,394,978 (GRCm39)	S165T	probably benign	Het
Dnah10	A	T	5: 124,820,783 (GRCm39)	D539V	probably benign	Het
Ebag9	A	T	15: 44,503,703 (GRCm39)	Q176L	probably benign	Het
Fbxw20	T	A	9: 109,062,530 (GRCm39)		probably benign	Het
Ftmt	A	G	18: 52,465,112 (GRCm39)	K143E	possibly damaging	Het
Gcc2	C	T	10: 58,103,801 (GRCm39)	R76C	probably damaging	Het
Gcn1	A	G	5: 115,719,566 (GRCm39)	T354A	probably benign	Het
Gtf2h1	A	G	7: 46,458,262 (GRCm39)	M271V	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Ism2	G	T	12: 87,326,969 (GRCm39)	D323E	probably damaging	Het
Itih4	A	G	14: 30,612,086 (GRCm39)	I184V	probably damaging	Het
Kdm4d	C	A	9: 14,374,833 (GRCm39)	V342L	probably benign	Het
Lmbr1	A	G	5: 29,551,900 (GRCm39)	F62L	probably benign	Het
Lmo7	TCGGATTCTGTGGC	TC	14: 102,155,072 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,277,586 (GRCm39)	S123T	possibly damaging	Het
Mical2	T	A	7: 111,981,323 (GRCm39)	N432K	probably benign	Het
Mrgprb4	A	G	7: 47,848,343 (GRCm39)	V195A	probably benign	Het
Ms4a4c	A	T	19: 11,396,360 (GRCm39)	I106F	probably benign	Het
Myo6	A	G	9: 80,136,140 (GRCm39)	T88A	unknown	Het
Naa35	A	G	13: 59,748,842 (GRCm39)	D158G	possibly damaging	Het
Nol12	A	G	15: 78,824,291 (GRCm39)	E137G	possibly damaging	Het
Nsun4	A	G	4: 115,897,316 (GRCm39)	S232P	probably damaging	Het
Odad2	A	T	18: 7,294,516 (GRCm39)	N32K	probably benign	Het
Odam	A	T	5: 88,040,298 (GRCm39)	I255L	probably benign	Het
Or14j8	A	T	17: 38,263,545 (GRCm39)	Y123*	probably null	Het
Or1ad8	A	T	11: 50,897,975 (GRCm39)	M59L	probably damaging	Het
Or1e26	T	A	11: 73,480,036 (GRCm39)	H176L	probably benign	Het
Or2n1d	T	C	17: 38,646,723 (GRCm39)	V225A	possibly damaging	Het
Or2w3b	G	A	11: 58,623,188 (GRCm39)	Q268*	probably null	Het
Or4b1	T	G	2: 89,980,327 (GRCm39)	T8P	probably damaging	Het
Pcnx2	T	C	8: 126,613,996 (GRCm39)	D485G	probably benign	Het
Polr3b	T	A	10: 84,467,697 (GRCm39)	N92K	probably benign	Het
Rpgrip1l	T	A	8: 92,007,436 (GRCm39)	M385L	probably benign	Het
Sdk1	A	T	5: 141,923,321 (GRCm39)	N314I	probably damaging	Het
Shc4	T	C	2: 125,514,394 (GRCm39)		probably benign	Het
Slc45a1	A	C	4: 150,722,731 (GRCm39)	C384W	probably damaging	Het
Slc4a11	C	T	2: 130,532,773 (GRCm39)	V227M	probably damaging	Het
Sorbs2	A	C	8: 46,258,858 (GRCm39)	S1132R	possibly damaging	Het
Spata31e3	G	A	13: 50,401,589 (GRCm39)	H246Y	possibly damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Spta1	T	A	1: 174,047,537 (GRCm39)	I1727K	probably damaging	Het
Srgap2	T	C	1: 131,283,307 (GRCm39)	E258G	probably damaging	Het
Taco1	A	T	11: 105,956,931 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,909,301 (GRCm39)	M648K	possibly damaging	Het
Taf7	A	G	18: 37,775,757 (GRCm39)	V270A	probably benign	Het
Tesc	A	G	5: 118,184,378 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,595,427 (GRCm39)	N532S	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem196	T	A	12: 119,978,510 (GRCm39)	C84S	probably damaging	Het
Topbp1	C	T	9: 103,182,499 (GRCm39)		probably benign	Het
Ttc16	A	G	2: 32,652,985 (GRCm39)	S615P	probably benign	Het
Ttc21a	T	A	9: 119,792,130 (GRCm39)		probably benign	Het
Tuba3b	T	C	6: 145,565,564 (GRCm39)	V344A	possibly damaging	Het
Tubgcp4	T	C	2: 121,015,251 (GRCm39)	F320L	probably benign	Het
Tusc3	T	A	8: 39,538,627 (GRCm39)	L222*	probably null	Het
Ubr4	G	A	4: 139,172,003 (GRCm39)		probably null	Het
Uncx	G	T	5: 139,532,936 (GRCm39)	V334L	possibly damaging	Het
Vezf1	C	A	11: 87,965,542 (GRCm39)	F261L	probably damaging	Het
Vezt	T	A	10: 93,809,874 (GRCm39)	I556L	probably benign	Het
Vmn1r172	C	T	7: 23,359,402 (GRCm39)	R96C	probably benign	Het
Zfp383	A	G	7: 29,608,070 (GRCm39)	M1V	probably null	Het
Zfp558	A	T	9: 18,367,776 (GRCm39)	S337R	possibly damaging	Het
Zranb1	T	A	7: 132,572,909 (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
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
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'- ACTACTCACGTTGATGGATGG -3'
(R):5'- TTGTCTTGCCCAGGCCAAAG -3'

Sequencing Primer
(F):5'- AGGACTGTGCGTGCTCAG -3'
(R):5'- AAGGCACTCACCGCTGTC -3'

Posted On

2021-10-11