Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Ttbk1'

637380

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46442448-46487675 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46470729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 366 (D366A)

Ref Sequence

ENSEMBL: ENSMUSP00000044580 (fasta)

Gene Model

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

AlphaFold

Q6PCN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047034
AA Change: D366A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: D366A

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

Meta Mutation Damage Score

0.0968

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 86,046,393 (GRCm38)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,982,628 (GRCm38)	I51M	probably damaging	Het
Afm	A	T	5: 90,523,888 (GRCm38)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,754,355 (GRCm38)	S753R	possibly damaging	Het
Aven	C	T	2: 112,559,775 (GRCm38)	R8W	probably benign	Het
Bicdl1	T	C	5: 115,649,559 (GRCm38)	H527R	probably benign	Het
Birc6	G	C	17: 74,611,131 (GRCm38)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,139,112 (GRCm38)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,848,371 (GRCm38)	L263P	probably damaging	Het
Cblb	C	A	16: 52,166,029 (GRCm38)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,242,485 (GRCm38)	P1579Q	probably benign	Het
Cdt1	A	G	8: 122,572,028 (GRCm38)	E468G	probably damaging	Het
Col28a1	A	G	6: 8,097,024 (GRCm38)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm38)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,018 (GRCm38)	A287T	probably benign	Het
Dcc	C	T	18: 71,955,018 (GRCm38)	V50I	probably benign	Het
Defb30	A	T	14: 63,049,767 (GRCm38)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm38)		probably benign	Het
Edc4	A	G	8: 105,892,273 (GRCm38)	T1291A	possibly damaging	Het
Epyc	A	T	10: 97,681,205 (GRCm38)	N302Y	probably damaging	Het
Espn	G	A	4: 152,149,030 (GRCm38)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,020,648 (GRCm38)		probably null	Het
Fam171b	G	A	2: 83,880,206 (GRCm38)	E741K	probably damaging	Het
Fgfr1	G	T	8: 25,562,272 (GRCm38)	E205*	probably null	Het
Flt3	A	G	5: 147,356,860 (GRCm38)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,768,666 (GRCm38)	K224E	probably benign	Het
Gm10110	C	T	14: 89,898,241 (GRCm38)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 123,934,222 (GRCm38)	Q17*	probably null	Het
Gm4353	T	C	7: 116,083,383 (GRCm38)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,664,537 (GRCm38)	H631R	probably damaging	Het
Hook1	T	A	4: 96,014,805 (GRCm38)		probably null	Het
Il9	T	A	13: 56,482,245 (GRCm38)		probably benign	Het
Itpr2	A	G	6: 146,390,783 (GRCm38)		probably null	Het
Lhcgr	A	T	17: 88,742,586 (GRCm38)	L504*	probably null	Het
Mical3	A	G	6: 121,012,543 (GRCm38)	V272A		Het
Mup10	A	G	4: 60,581,563 (GRCm38)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,369,598 (GRCm38)	P165R	probably damaging	Het
Nanog	A	T	6: 122,713,172 (GRCm38)	I179F	probably benign	Het
Or5w14	T	A	2: 87,711,760 (GRCm38)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,775,281 (GRCm38)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,847,662 (GRCm38)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,678,822 (GRCm38)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,687,068 (GRCm38)		probably null	Het
Rtf1	T	C	2: 119,701,214 (GRCm38)	S141P	probably damaging	Het
Slc2a1	G	C	4: 119,133,257 (GRCm38)	S226T	probably benign	Het
Smyd3	A	C	1: 179,405,640 (GRCm38)		probably null	Het
Sos1	T	C	17: 80,408,283 (GRCm38)	E1015G	probably benign	Het
Sult1b1	G	T	5: 87,521,524 (GRCm38)	T155N	probably damaging	Het
Tcam1	A	G	11: 106,286,417 (GRCm38)	I412V	probably benign	Het
Tet2	G	A	3: 133,487,786 (GRCm38)	P296S	probably benign	Het
Tmem30c	T	C	16: 57,276,179 (GRCm38)	D193G	probably null	Het
Trem2	G	T	17: 48,351,906 (GRCm38)	W233L	probably benign	Het
Trpm3	C	A	19: 22,987,408 (GRCm38)	D1422E	probably benign	Het
Ttyh1	G	A	7: 4,125,548 (GRCm38)	G148D	probably benign	Het
Ubr2	T	C	17: 46,951,909 (GRCm38)	M1259V	probably benign	Het
Zfp608	T	A	18: 54,899,209 (GRCm38)	D553V	probably damaging	Het
Zkscan2	A	G	7: 123,479,912 (GRCm38)	S941P	probably benign	Het
Zranb1	T	C	7: 132,949,664 (GRCm38)	Y15H	probably damaging	Het

Other mutations in Ttbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Ttbk1	APN	17	46,447,063 (GRCm38)	missense	probably damaging	1.00
IGL02469:Ttbk1	APN	17	46,470,630 (GRCm38)	missense	possibly damaging	0.77
IGL02826:Ttbk1	APN	17	46,470,660 (GRCm38)	missense	probably benign
IGL02874:Ttbk1	APN	17	46,470,225 (GRCm38)	missense	probably benign	0.10
IGL02948:Ttbk1	APN	17	46,446,330 (GRCm38)	missense	probably benign	0.44
IGL03037:Ttbk1	APN	17	46,446,330 (GRCm38)	missense	probably benign	0.44
R0165:Ttbk1	UTSW	17	46,478,938 (GRCm38)	missense	possibly damaging	0.70
R1186:Ttbk1	UTSW	17	46,467,131 (GRCm38)	missense	probably damaging	1.00
R1228:Ttbk1	UTSW	17	46,476,712 (GRCm38)	critical splice donor site	probably null
R1423:Ttbk1	UTSW	17	46,446,154 (GRCm38)	splice site	probably benign
R1477:Ttbk1	UTSW	17	46,476,799 (GRCm38)	missense	probably benign	0.05
R1960:Ttbk1	UTSW	17	46,480,224 (GRCm38)	missense	probably damaging	0.99
R1961:Ttbk1	UTSW	17	46,480,224 (GRCm38)	missense	probably damaging	0.99
R4043:Ttbk1	UTSW	17	46,446,762 (GRCm38)	missense	probably benign	0.21
R4190:Ttbk1	UTSW	17	46,479,247 (GRCm38)	missense	probably damaging	1.00
R4192:Ttbk1	UTSW	17	46,479,247 (GRCm38)	missense	probably damaging	1.00
R4193:Ttbk1	UTSW	17	46,479,247 (GRCm38)	missense	probably damaging	1.00
R4660:Ttbk1	UTSW	17	46,477,788 (GRCm38)	nonsense	probably null
R5383:Ttbk1	UTSW	17	46,467,416 (GRCm38)	missense	probably damaging	1.00
R5385:Ttbk1	UTSW	17	46,447,632 (GRCm38)	missense	probably benign	0.00
R5715:Ttbk1	UTSW	17	46,479,207 (GRCm38)	missense	probably damaging	0.99
R6218:Ttbk1	UTSW	17	46,470,807 (GRCm38)	missense	possibly damaging	0.47
R6263:Ttbk1	UTSW	17	46,467,262 (GRCm38)	missense	probably damaging	1.00
R6471:Ttbk1	UTSW	17	46,467,277 (GRCm38)	missense	probably benign
R6537:Ttbk1	UTSW	17	46,470,310 (GRCm38)	missense	probably damaging	0.98
R6552:Ttbk1	UTSW	17	46,478,962 (GRCm38)	missense	probably benign	0.14
R7564:Ttbk1	UTSW	17	46,476,931 (GRCm38)	missense	possibly damaging	0.66
R7853:Ttbk1	UTSW	17	46,447,343 (GRCm38)	missense	probably benign	0.00
R7871:Ttbk1	UTSW	17	46,446,238 (GRCm38)	missense	probably benign
R7873:Ttbk1	UTSW	17	46,446,568 (GRCm38)	missense	probably damaging	1.00
R7908:Ttbk1	UTSW	17	46,478,938 (GRCm38)	missense	probably damaging	1.00
R8210:Ttbk1	UTSW	17	46,480,161 (GRCm38)	missense	possibly damaging	0.95
R8754:Ttbk1	UTSW	17	46,445,201 (GRCm38)	nonsense	probably null
R8829:Ttbk1	UTSW	17	46,446,895 (GRCm38)	missense	probably damaging	1.00
R8870:Ttbk1	UTSW	17	46,470,735 (GRCm38)	missense	probably damaging	1.00
R9091:Ttbk1	UTSW	17	46,470,591 (GRCm38)	missense	possibly damaging	0.48
R9135:Ttbk1	UTSW	17	46,479,206 (GRCm38)	nonsense	probably null
R9270:Ttbk1	UTSW	17	46,470,591 (GRCm38)	missense	possibly damaging	0.48
R9605:Ttbk1	UTSW	17	46,473,590 (GRCm38)	missense	possibly damaging	0.77
R9609:Ttbk1	UTSW	17	46,447,222 (GRCm38)	missense	probably damaging	0.99
R9617:Ttbk1	UTSW	17	46,447,072 (GRCm38)	missense	probably damaging	1.00
X0066:Ttbk1	UTSW	17	46,446,856 (GRCm38)	missense	possibly damaging	0.74
Z1088:Ttbk1	UTSW	17	46,446,325 (GRCm38)	missense	probably benign	0.35
Z1176:Ttbk1	UTSW	17	46,460,911 (GRCm38)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GCCTAGATGCACTTACTTTGC -3'
(R):5'- CTTGTAGGCAGGGATGGCAATG -3'

Sequencing Primer
(F):5'- GCCAATGTTGATGCGCAG -3'
(R):5'- TACTCTGGAGATGGTCCCCAG -3'

Posted On

2020-07-13