Mutagenetix > Incidental Mutations

Incidental Mutation 'R6537:Ttbk1'

520504

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R6537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46442448-46487675 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46470310 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 446 (V446M)

Ref Sequence

ENSEMBL: ENSMUSP00000153386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000225808]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047034
AA Change: V446M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: V446M

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	34	293	3.4e-21	PFAM
Pfam:Pkinase	34	305	1.7e-33	PFAM
low complexity region	320	334	N/A	INTRINSIC
low complexity region	371	395	N/A	INTRINSIC
low complexity region	570	593	N/A	INTRINSIC
low complexity region	611	624	N/A	INTRINSIC
low complexity region	633	653	N/A	INTRINSIC
low complexity region	697	709	N/A	INTRINSIC
coiled coil region	729	776	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	893	913	N/A	INTRINSIC
low complexity region	945	962	N/A	INTRINSIC
low complexity region	1090	1115	N/A	INTRINSIC
low complexity region	1236	1251	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Predicted Effect

probably damaging
Transcript: ENSMUST00000225808
AA Change: V446M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (30/30)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc4	T	C	5: 52,843,556	S224P	probably damaging	Het
Col6a4	G	A	9: 106,067,954	T987M	possibly damaging	Het
Cort	C	T	4: 149,126,624	G8E	probably benign	Het
Ctdp1	G	T	18: 80,449,551	D576E	probably benign	Het
Ctsq	A	T	13: 61,035,326	I334N	probably damaging	Het
Cwc15	A	G	9: 14,501,988	D22G	probably damaging	Het
Dnmt3l	G	A	10: 78,052,064	G136R	probably null	Het
Fam19a2	T	A	10: 123,593,496	M5K	possibly damaging	Het
Fxyd6	A	G	9: 45,390,794	I37V	possibly damaging	Het
Gm10604	A	C	4: 11,980,221	S28A	unknown	Het
Gm43302	A	G	5: 105,290,995	I9T	possibly damaging	Het
Hmcn2	T	C	2: 31,415,268	V3151A	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Kyat3	A	G	3: 142,729,812	T282A	probably benign	Het
Lrp6	T	C	6: 134,480,495	E782G	probably benign	Het
Lrrc3b	T	C	14: 15,357,946	Y220C	probably damaging	Het
Macf1	C	T	4: 123,492,725	S1033N	probably damaging	Het
Mdm1	A	G	10: 118,158,576	T452A	probably benign	Het
Nrn1l	G	T	8: 105,894,718	R99L	probably damaging	Het
Pappa	T	A	4: 65,297,282	I1142N	probably damaging	Het
Pcsk1	T	C	13: 75,132,239	F728L	probably damaging	Het
Ptcd3	T	C	6: 71,897,110		probably null	Het
Siglecf	C	T	7: 43,355,999	T461I	probably benign	Het
Slc7a8	C	T	14: 54,735,119	A282T	probably benign	Het
Srcap	T	C	7: 127,542,220	V1724A	probably damaging	Het
Tek	A	G	4: 94,837,324	Q609R	probably benign	Het
Trim45	C	T	3: 100,925,396	A315V	probably benign	Het
Wrap53	T	C	11: 69,563,868	D225G	possibly damaging	Het
Znhit6	A	G	3: 145,594,619	I193V	probably benign	Het

Other mutations in Ttbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Ttbk1	APN	17	46447063	missense	probably damaging	1.00
IGL02469:Ttbk1	APN	17	46470630	missense	possibly damaging	0.77
IGL02826:Ttbk1	APN	17	46470660	missense	probably benign
IGL02874:Ttbk1	APN	17	46470225	missense	probably benign	0.10
IGL02948:Ttbk1	APN	17	46446330	missense	probably benign	0.44
IGL03037:Ttbk1	APN	17	46446330	missense	probably benign	0.44
R0165:Ttbk1	UTSW	17	46478938	missense	possibly damaging	0.70
R1186:Ttbk1	UTSW	17	46467131	missense	probably damaging	1.00
R1228:Ttbk1	UTSW	17	46476712	critical splice donor site	probably null
R1423:Ttbk1	UTSW	17	46446154	splice site	probably benign
R1477:Ttbk1	UTSW	17	46476799	missense	probably benign	0.05
R1960:Ttbk1	UTSW	17	46480224	missense	probably damaging	0.99
R1961:Ttbk1	UTSW	17	46480224	missense	probably damaging	0.99
R4043:Ttbk1	UTSW	17	46446762	missense	probably benign	0.21
R4190:Ttbk1	UTSW	17	46479247	missense	probably damaging	1.00
R4192:Ttbk1	UTSW	17	46479247	missense	probably damaging	1.00
R4193:Ttbk1	UTSW	17	46479247	missense	probably damaging	1.00
R4660:Ttbk1	UTSW	17	46477788	nonsense	probably null
R5383:Ttbk1	UTSW	17	46467416	missense	probably damaging	1.00
R5385:Ttbk1	UTSW	17	46447632	missense	probably benign	0.00
R5715:Ttbk1	UTSW	17	46479207	missense	probably damaging	0.99
R6218:Ttbk1	UTSW	17	46470807	missense	possibly damaging	0.47
R6263:Ttbk1	UTSW	17	46467262	missense	probably damaging	1.00
R6471:Ttbk1	UTSW	17	46467277	missense	probably benign
R6552:Ttbk1	UTSW	17	46478962	missense	probably benign	0.14
R7564:Ttbk1	UTSW	17	46476931	missense	possibly damaging	0.66
X0066:Ttbk1	UTSW	17	46446856	missense	possibly damaging	0.74
Z1088:Ttbk1	UTSW	17	46446325	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TGACCTGACCTTTCGCAGAG -3'
(R):5'- GCAAAGTAAGTGCATCTAGGC -3'

Sequencing Primer
(F):5'- TTTCGCAGAGCAGCCATG -3'
(R):5'- AGGGTATGGGCAGCCTTC -3'

Posted On

2018-06-06