Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Ttbk1'

424880

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

C330008L01Rik

MMRRC Submission

042958-MU

Accession Numbers

Essential gene?

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

Stock #

R5383 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46753374-46798601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46778342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 567 (T567A)

Ref Sequence

ENSEMBL: ENSMUSP00000153386 (fasta)

Gene Model

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

AlphaFold

Q6PCN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047034
AA Change: T567A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: T567A

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: T567A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.1435

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,211,532 (GRCm39)	Y227F	possibly damaging	Het
Aadac	T	C	3: 59,943,496 (GRCm39)		probably benign	Het
Abl2	G	A	1: 156,469,802 (GRCm39)	G918E	possibly damaging	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Adck1	T	C	12: 88,422,373 (GRCm39)	V328A	probably benign	Het
Ano6	A	G	15: 95,813,918 (GRCm39)	I279V	probably benign	Het
AW551984	T	A	9: 39,501,994 (GRCm39)	Y704F	probably benign	Het
C1s1	T	C	6: 124,511,360 (GRCm39)	D321G	probably damaging	Het
Cacna1d	T	A	14: 29,767,236 (GRCm39)	D1910V	possibly damaging	Het
Cdh5	A	G	8: 104,864,479 (GRCm39)	Q480R	probably benign	Het
Cdhr1	C	T	14: 36,810,964 (GRCm39)	V266M	possibly damaging	Het
Cdk5rap1	A	T	2: 154,192,755 (GRCm39)	V414D	possibly damaging	Het
Ctdnep1	T	A	11: 69,875,222 (GRCm39)		probably benign	Het
Cyfip2	T	C	11: 46,168,918 (GRCm39)	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 25,041,397 (GRCm39)	S273N	probably benign	Het
Ddi2	A	G	4: 141,412,163 (GRCm39)	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,095,409 (GRCm39)	T486A	probably benign	Het
Disc1	A	G	8: 125,862,196 (GRCm39)	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,775,342 (GRCm39)	S313P	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnah11	T	C	12: 118,049,432 (GRCm39)	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,571,103 (GRCm39)	V57E	probably damaging	Het
Fam98a	C	T	17: 75,845,576 (GRCm39)	G390E	unknown	Het
Hook3	C	A	8: 26,609,017 (GRCm39)	R9L	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Impg2	A	G	16: 56,063,989 (GRCm39)	D298G	probably benign	Het
Inf2	T	A	12: 112,566,579 (GRCm39)	V48D	probably damaging	Het
Itprid1	T	A	6: 55,955,275 (GRCm39)	L961H	probably benign	Het
Kcnh1	G	A	1: 192,187,999 (GRCm39)	G820D	probably benign	Het
Lsm14a	C	T	7: 34,088,789 (GRCm39)	A39T	possibly damaging	Het
Muc2	T	C	7: 141,307,456 (GRCm39)	C804R	probably damaging	Het
Nim1k	C	T	13: 120,189,335 (GRCm39)	V25M	probably benign	Het
Or11g25	T	A	14: 50,723,509 (GRCm39)	L198*	probably null	Het
Or4a73	T	C	2: 89,421,457 (GRCm39)	M1V	probably null	Het
Or5b122	T	A	19: 13,563,439 (GRCm39)	M257K	probably damaging	Het
Or6c68	A	G	10: 129,158,205 (GRCm39)	T238A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,231 (GRCm39)	D857G	probably benign	Het
Pitrm1	T	A	13: 6,627,468 (GRCm39)	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,793,349 (GRCm39)	C1679R	probably benign	Het
Pkp4	T	A	2: 59,140,617 (GRCm39)	L441*	probably null	Het
Ppp4r4	T	C	12: 103,550,427 (GRCm39)	F284L	probably benign	Het
Ptprt	T	A	2: 161,539,969 (GRCm39)	K769M	probably damaging	Het
Rbm12	G	T	2: 155,945,285 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,225,146 (GRCm39)	D94G	possibly damaging	Het
Scap	G	T	9: 110,203,597 (GRCm39)	K310N	probably damaging	Het
Smpd2	C	T	10: 41,364,698 (GRCm39)		probably benign	Het
Sp110	TC	TCC	1: 85,519,290 (GRCm39)		probably null	Het
Specc1l	T	A	10: 75,082,539 (GRCm39)	I662N	possibly damaging	Het
Sptan1	T	A	2: 29,901,340 (GRCm39)	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,609,319 (GRCm39)		probably benign	Het
Taf2	A	G	15: 54,912,815 (GRCm39)	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,718,227 (GRCm39)	Q203*	probably null	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Tmem43	G	A	6: 91,450,872 (GRCm39)	A2T	probably benign	Het
Trav9-1	T	A	14: 53,725,833 (GRCm39)	I49N	probably benign	Het
Trim23	T	G	13: 104,335,205 (GRCm39)	N410K	probably damaging	Het
Unc79	A	G	12: 103,070,886 (GRCm39)	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,852,887 (GRCm39)	I9R	probably damaging	Het
Zfp563	T	A	17: 33,323,681 (GRCm39)	M92K	probably benign	Het
Zfp618	G	A	4: 63,013,729 (GRCm39)	G198D	probably benign	Het
Zfp637	G	T	6: 117,820,270 (GRCm39)		probably benign	Het

Other mutations in Ttbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Ttbk1	APN	17	46,757,989 (GRCm39)	missense	probably damaging	1.00
IGL02469:Ttbk1	APN	17	46,781,556 (GRCm39)	missense	possibly damaging	0.77
IGL02826:Ttbk1	APN	17	46,781,586 (GRCm39)	missense	probably benign
IGL02874:Ttbk1	APN	17	46,781,151 (GRCm39)	missense	probably benign	0.10
IGL02948:Ttbk1	APN	17	46,757,256 (GRCm39)	missense	probably benign	0.44
IGL03037:Ttbk1	APN	17	46,757,256 (GRCm39)	missense	probably benign	0.44
R0165:Ttbk1	UTSW	17	46,789,864 (GRCm39)	missense	possibly damaging	0.70
R1186:Ttbk1	UTSW	17	46,778,057 (GRCm39)	missense	probably damaging	1.00
R1228:Ttbk1	UTSW	17	46,787,638 (GRCm39)	critical splice donor site	probably null
R1423:Ttbk1	UTSW	17	46,757,080 (GRCm39)	splice site	probably benign
R1477:Ttbk1	UTSW	17	46,787,725 (GRCm39)	missense	probably benign	0.05
R1960:Ttbk1	UTSW	17	46,791,150 (GRCm39)	missense	probably damaging	0.99
R1961:Ttbk1	UTSW	17	46,791,150 (GRCm39)	missense	probably damaging	0.99
R4043:Ttbk1	UTSW	17	46,757,688 (GRCm39)	missense	probably benign	0.21
R4190:Ttbk1	UTSW	17	46,790,173 (GRCm39)	missense	probably damaging	1.00
R4192:Ttbk1	UTSW	17	46,790,173 (GRCm39)	missense	probably damaging	1.00
R4193:Ttbk1	UTSW	17	46,790,173 (GRCm39)	missense	probably damaging	1.00
R4660:Ttbk1	UTSW	17	46,788,714 (GRCm39)	nonsense	probably null
R5385:Ttbk1	UTSW	17	46,758,558 (GRCm39)	missense	probably benign	0.00
R5715:Ttbk1	UTSW	17	46,790,133 (GRCm39)	missense	probably damaging	0.99
R6218:Ttbk1	UTSW	17	46,781,733 (GRCm39)	missense	possibly damaging	0.47
R6263:Ttbk1	UTSW	17	46,778,188 (GRCm39)	missense	probably damaging	1.00
R6471:Ttbk1	UTSW	17	46,778,203 (GRCm39)	missense	probably benign
R6537:Ttbk1	UTSW	17	46,781,236 (GRCm39)	missense	probably damaging	0.98
R6552:Ttbk1	UTSW	17	46,789,888 (GRCm39)	missense	probably benign	0.14
R7564:Ttbk1	UTSW	17	46,787,857 (GRCm39)	missense	possibly damaging	0.66
R7853:Ttbk1	UTSW	17	46,758,269 (GRCm39)	missense	probably benign	0.00
R7871:Ttbk1	UTSW	17	46,757,164 (GRCm39)	missense	probably benign
R7873:Ttbk1	UTSW	17	46,757,494 (GRCm39)	missense	probably damaging	1.00
R7908:Ttbk1	UTSW	17	46,789,864 (GRCm39)	missense	probably damaging	1.00
R8210:Ttbk1	UTSW	17	46,791,087 (GRCm39)	missense	possibly damaging	0.95
R8236:Ttbk1	UTSW	17	46,781,655 (GRCm39)	missense	probably damaging	1.00
R8754:Ttbk1	UTSW	17	46,756,127 (GRCm39)	nonsense	probably null
R8829:Ttbk1	UTSW	17	46,757,821 (GRCm39)	missense	probably damaging	1.00
R8870:Ttbk1	UTSW	17	46,781,661 (GRCm39)	missense	probably damaging	1.00
R9091:Ttbk1	UTSW	17	46,781,517 (GRCm39)	missense	possibly damaging	0.48
R9135:Ttbk1	UTSW	17	46,790,132 (GRCm39)	nonsense	probably null
R9270:Ttbk1	UTSW	17	46,781,517 (GRCm39)	missense	possibly damaging	0.48
R9605:Ttbk1	UTSW	17	46,784,516 (GRCm39)	missense	possibly damaging	0.77
R9609:Ttbk1	UTSW	17	46,758,148 (GRCm39)	missense	probably damaging	0.99
R9617:Ttbk1	UTSW	17	46,757,998 (GRCm39)	missense	probably damaging	1.00
X0066:Ttbk1	UTSW	17	46,757,782 (GRCm39)	missense	possibly damaging	0.74
Z1088:Ttbk1	UTSW	17	46,757,251 (GRCm39)	missense	probably benign	0.35
Z1176:Ttbk1	UTSW	17	46,771,837 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TGGCTGTGATGTCTCTGACC -3'
(R):5'- CACACTGAACTCCATGTGGG -3'

Sequencing Primer
(F):5'- ATGTCTCTGACCGGCCATCAG -3'
(R):5'- AGCTCAGATGCTGTCAGTGGAC -3'

Posted On

2016-08-04