Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:Ttbk1'

318373

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R4192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46442448-46487675 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46479247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 91 (C91S)

Ref Sequence

ENSEMBL: ENSMUSP00000044580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000223818] [ENSMUST00000225808]

AlphaFold

Q6PCN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047034
AA Change: C91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: C91S

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 benign
Transcript: ENSMUST00000223818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224870

Predicted Effect

probably damaging
Transcript: ENSMUST00000225808
AA Change: C91S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.9286

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 36,096,579	R178L	possibly damaging	Het
Acot4	T	C	12: 84,043,174		probably benign	Het
Add3	C	A	19: 53,242,524	D543E	probably benign	Het
Angpt4	A	C	2: 151,943,318	D418A	probably benign	Het
Ano8	A	T	8: 71,483,292	V260D	probably damaging	Het
Cfh	C	T	1: 140,102,716	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,207,077	D182E	probably benign	Het
E330021D16Rik	T	C	6: 136,401,437	T132A	probably benign	Het
Epb42	G	T	2: 121,030,089		probably null	Het
Fam185a	T	A	5: 21,425,124		probably benign	Het
Fam205c	A	T	4: 42,874,185		probably benign	Het
Fer1l6	A	G	15: 58,647,149	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,007,998	P210S	probably benign	Het
Gm8369	C	T	19: 11,502,232	P9S	probably damaging	Het
Il17ra	A	G	6: 120,481,511	D541G	probably damaging	Het
Ints4	T	G	7: 97,507,733	H337Q	probably damaging	Het
Itgam	A	G	7: 128,064,732	T44A	probably benign	Het
Lyst	C	A	13: 13,740,513	T3264N	probably damaging	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,407,377	F728I	probably damaging	Het
Nacad	T	C	11: 6,605,534	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003	Q25*	probably null	Het
Oca2	T	C	7: 56,297,249	F342S	probably damaging	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,585,229	L499Q	probably damaging	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Peak1	A	T	9: 56,258,741	N634K	probably damaging	Het
Pitpnm3	T	C	11: 72,051,959	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,925,470		probably benign	Het
Rcc1l	T	C	5: 134,155,809	T385A	probably benign	Het
Rrm2	T	C	12: 24,708,378	I11T	probably benign	Het
Scnn1b	A	G	7: 121,902,739	T207A	possibly damaging	Het
Syt12	T	A	19: 4,447,681		probably benign	Het
Tmprss6	A	T	15: 78,446,657		probably null	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,215,827	I14R	probably damaging	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
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
R6537:Ttbk1	UTSW	17	46470310	missense	probably damaging	0.98
R6552:Ttbk1	UTSW	17	46478962	missense	probably benign	0.14
R7564:Ttbk1	UTSW	17	46476931	missense	possibly damaging	0.66
R7853:Ttbk1	UTSW	17	46447343	missense	probably benign	0.00
R7871:Ttbk1	UTSW	17	46446238	missense	probably benign
R7873:Ttbk1	UTSW	17	46446568	missense	probably damaging	1.00
R7908:Ttbk1	UTSW	17	46478938	missense	probably damaging	1.00
R8210:Ttbk1	UTSW	17	46480161	missense	possibly damaging	0.95
R8236:Ttbk1	UTSW	17	46470729	missense	probably damaging	1.00
R8754:Ttbk1	UTSW	17	46445201	nonsense	probably null
R8829:Ttbk1	UTSW	17	46446895	missense	probably damaging	1.00
R8870:Ttbk1	UTSW	17	46470735	missense	probably damaging	1.00
R9091:Ttbk1	UTSW	17	46470591	missense	possibly damaging	0.48
R9135:Ttbk1	UTSW	17	46479206	nonsense	probably null
R9270:Ttbk1	UTSW	17	46470591	missense	possibly damaging	0.48
R9605:Ttbk1	UTSW	17	46473590	missense	possibly damaging	0.77
R9609:Ttbk1	UTSW	17	46447222	missense	probably damaging	0.99
R9617:Ttbk1	UTSW	17	46447072	missense	probably damaging	1.00
X0066:Ttbk1	UTSW	17	46446856	missense	possibly damaging	0.74
Z1088:Ttbk1	UTSW	17	46446325	missense	probably benign	0.35
Z1176:Ttbk1	UTSW	17	46460911	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CATTCACCACCCAGCCTTG -3'
(R):5'- GTGTAGTATACATACACACCACAAAC -3'

Sequencing Primer
(F):5'- CACCCAGCCTTGCCCCC -3'
(R):5'- TACAGAGATACAGTCACAGAGAGCTC -3'

Posted On

2015-06-10