Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Ttbk1'

503875

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

C330008L01Rik

Accession Numbers

Essential gene?

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

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46753374-46798601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46781733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 340 (V340A)

Ref Sequence

ENSEMBL: ENSMUSP00000044580 (fasta)

Gene Model

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

AlphaFold

Q6PCN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047034
AA Change: V340A

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: V340A

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: ENSMUST00000225808
AA Change: V340A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,730 (GRCm39)	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 48,910,134 (GRCm39)	N766K	probably benign	Het
Adam15	A	C	3: 89,251,190 (GRCm39)	I505S	probably benign	Het
Apc2	T	C	10: 80,142,254 (GRCm39)	M391T	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bclaf1	A	G	10: 20,210,374 (GRCm39)	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,216,021 (GRCm39)	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,724,863 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,851,633 (GRCm39)	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,526,671 (GRCm39)	S469T	probably benign	Het
Dzip3	A	T	16: 48,778,828 (GRCm39)	M323K	possibly damaging	Het
Eci2	T	A	13: 35,177,048 (GRCm39)		probably null	Het
Fam227b	A	T	2: 125,968,882 (GRCm39)	V64E	probably damaging	Het
Galnt2	A	G	8: 125,070,054 (GRCm39)	I524V	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm3443	T	A	19: 21,533,110 (GRCm39)	S25T	probably damaging	Het
Gpr22	T	A	12: 31,761,616 (GRCm39)	K14*	probably null	Het
Grip1	T	C	10: 119,822,251 (GRCm39)	S405P	possibly damaging	Het
Helz2	T	C	2: 180,877,738 (GRCm39)	H1020R	probably damaging	Het
Helz2	C	A	2: 180,874,087 (GRCm39)	V2136L	probably benign	Het
Il36rn	G	A	2: 24,167,502 (GRCm39)		probably benign	Het
Iqsec1	T	A	6: 90,666,617 (GRCm39)	S607C	probably damaging	Het
Irag1	G	A	7: 110,476,112 (GRCm39)	T819M	probably benign	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,168,645 (GRCm39)	I595V	unknown	Het
Large2	T	C	2: 92,200,981 (GRCm39)	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,009,881 (GRCm39)	Y122H	probably damaging	Het
Map1b	A	T	13: 99,569,714 (GRCm39)	D1002E	unknown	Het
Mink1	C	T	11: 70,489,720 (GRCm39)	T59I	possibly damaging	Het
Myo7b	T	C	18: 32,092,507 (GRCm39)	N2097D	probably benign	Het
Nbea	C	A	3: 55,535,905 (GRCm39)	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,490,257 (GRCm39)	V490E	probably damaging	Het
Or2w1b	G	A	13: 21,300,401 (GRCm39)	E180K	probably damaging	Het
Or2y3	A	G	17: 38,393,620 (GRCm39)	M83T	probably damaging	Het
Or4c123	G	T	2: 89,127,306 (GRCm39)	H103N	probably damaging	Het
Or4f62	T	C	2: 111,986,701 (GRCm39)	I135T	probably damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pdcl3	T	C	1: 39,027,152 (GRCm39)		probably null	Het
Pheta2	T	A	15: 82,227,917 (GRCm39)	H145Q	probably benign	Het
Pira12	A	T	7: 3,897,031 (GRCm39)	S602T	possibly damaging	Het
Pkp1	T	C	1: 135,807,646 (GRCm39)	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,898,992 (GRCm39)	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,430 (GRCm39)	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,098,823 (GRCm39)	Y712H	probably damaging	Het
Prune2	T	C	19: 17,098,926 (GRCm39)	S1477P	probably benign	Het
Psma5	A	G	3: 108,187,118 (GRCm39)	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,106,286 (GRCm39)	A284P	probably benign	Het
Samsn1	G	A	16: 75,742,162 (GRCm39)		noncoding transcript	Het
Scel	A	G	14: 103,809,478 (GRCm39)	T273A	probably benign	Het
Slc22a5	T	A	11: 53,782,444 (GRCm39)		probably benign	Het
Slc25a37	A	T	14: 69,486,953 (GRCm39)	M110K	possibly damaging	Het
Slc6a2	A	T	8: 93,708,609 (GRCm39)	M242L	probably benign	Het
Slc8a3	C	A	12: 81,246,341 (GRCm39)	W904L	probably benign	Het
Ss18l1	G	A	2: 179,696,905 (GRCm39)	V109I	probably benign	Het
Tbx5	C	T	5: 119,991,663 (GRCm39)	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,360,342 (GRCm39)	L244F	probably damaging	Het
Tmem107	T	A	11: 68,962,241 (GRCm39)	V66E	probably damaging	Het
Tnr	T	C	1: 159,715,884 (GRCm39)	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Veph1	T	C	3: 66,162,481 (GRCm39)	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,449,983 (GRCm39)	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,610 (GRCm39)	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,818,436 (GRCm39)	E620G	probably benign	Het
Zfp418	A	G	7: 7,185,627 (GRCm39)	H530R	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,581 (GRCm39)	A10T	possibly damaging	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
R5383:Ttbk1	UTSW	17	46,778,342 (GRCm39)	missense	probably damaging	1.00
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
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'- CTTTGCCAATGTTGATGCGCAG -3'
(R):5'- CTTGTAGGCAGGGATGGCAATG -3'

Sequencing Primer
(F):5'- GCGGTTGACATCTGTCTCC -3'
(R):5'- GCAATGGGCCTCTTCTCTGG -3'

Posted On

2018-02-27