Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02948:Ttbk1'

364830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

46442448-46487675 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46446330 bp

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]

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,319		probably benign	Het
Ano3	A	T	2: 110,697,018		probably benign	Het
Arpp21	T	C	9: 112,176,200	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440		probably benign	Het
Ceacam13	C	T	7: 18,011,063		probably benign	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Cntn1	A	G	15: 92,246,010	T285A	probably benign	Het
Dusp4	G	T	8: 34,818,572	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066		probably benign	Het
Esyt1	A	T	10: 128,519,171	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992		probably benign	Het
Fam162b	T	C	10: 51,587,296	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,341,711		probably benign	Het
Hhatl	T	C	9: 121,789,791	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384		probably null	Het
Lrp2	G	T	2: 69,487,837	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771		probably benign	Het
Ropn1l	T	C	15: 31,451,179	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,254,450		probably null	Het
Rtn2	T	C	7: 19,293,111	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962	Y131*	probably null	Het
Slc28a2	T	A	2: 122,457,977	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,133,235		probably null	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952	L211Q	probably damaging	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641	S17T	probably benign	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
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
R4192: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
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

Posted On

2015-12-18