Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Ttbk1'

408724

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

46753374-46798601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46757256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1126 (T1126I)

Ref Sequence

ENSEMBL: ENSMUSP00000044580 (fasta)

Gene Model

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

AlphaFold

Q6PCN3

Predicted Effect

probably benign
Transcript: ENSMUST00000047034
AA Change: T1126I

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: T1126I

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

Coding Region Coverage

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably 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
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
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

Posted On

2016-08-02