Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00091:Ttbk2'

1854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttbk2

Ensembl Gene

ENSMUSG00000090100

Gene Name

tau tubulin kinase 2

Synonyms

B930008N24Rik, 2610507N02Rik, TTK

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00091

Quality Score

Status

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 120748833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 534 (G534*)

Ref Sequence

ENSEMBL: ENSMUSP00000121996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]

AlphaFold

Q3UVR3

Predicted Effect

probably null
Transcript: ENSMUST00000028740
AA Change: G603*

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: G603*

Domain	Start	End	E-Value	Type
Pfam:Pkinase	90	347	7e-31	PFAM
Pfam:Pkinase_Tyr	90	348	8.2e-19	PFAM
low complexity region	369	383	N/A	INTRINSIC
low complexity region	1143	1156	N/A	INTRINSIC
low complexity region	1205	1242	N/A	INTRINSIC
low complexity region	1254	1271	N/A	INTRINSIC
low complexity region	1285	1309	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000057135
AA Change: G534*

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: G534*

Domain	Start	End	E-Value	Type
Pfam:Pkinase	21	274	1.2e-32	PFAM
Pfam:Pkinase_Tyr	21	280	3.8e-19	PFAM
low complexity region	300	314	N/A	INTRINSIC
low complexity region	1074	1087	N/A	INTRINSIC
low complexity region	1136	1173	N/A	INTRINSIC
low complexity region	1185	1202	N/A	INTRINSIC
low complexity region	1216	1240	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085840
AA Change: G534*

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: G534*

Domain	Start	End	E-Value	Type
Pfam:Pkinase	21	274	1.2e-32	PFAM
Pfam:Pkinase_Tyr	21	280	3.8e-19	PFAM
low complexity region	300	314	N/A	INTRINSIC
low complexity region	1074	1087	N/A	INTRINSIC
low complexity region	1136	1173	N/A	INTRINSIC
low complexity region	1185	1202	N/A	INTRINSIC
low complexity region	1216	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131389

SMART Domains

Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100

Domain	Start	End	E-Value	Type
Pfam:Pkinase	21	145	1.3e-18	PFAM
Pfam:Pkinase_Tyr	21	148	9.7e-12	PFAM
Pfam:Pkinase	145	239	1.2e-5	PFAM
low complexity region	265	279	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000143051
AA Change: G534*

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: G534*

Domain	Start	End	E-Value	Type
Pfam:Pkinase	21	274	2.4e-32	PFAM
Pfam:Pkinase_Tyr	21	280	7.7e-19	PFAM
low complexity region	300	314	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148285

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,883,428	Y400F	probably benign	Het
Adamts8	C	A	9: 30,953,500	T429K	probably damaging	Het
Adgrv1	C	T	13: 81,578,101	D602N	probably damaging	Het
Ano7	A	T	1: 93,402,166	H775L	probably benign	Het
Apoo-ps	A	T	13: 107,414,634		noncoding transcript	Het
Arid2	T	C	15: 96,372,302	V1432A	probably benign	Het
Atoh1	T	C	6: 64,729,584	S88P	possibly damaging	Het
C130050O18Rik	A	G	5: 139,414,846	E218G	probably damaging	Het
Cacna2d1	T	A	5: 16,212,944	F155L	probably damaging	Het
Car4	C	T	11: 84,965,767	P294S	probably damaging	Het
Cyp1a2	G	T	9: 57,682,069	S154*	probably null	Het
Cyp3a25	A	T	5: 146,001,463	Y68*	probably null	Het
Dmbt1	C	A	7: 131,079,540		probably benign	Het
Dnajc22	T	A	15: 99,101,178	F81L	possibly damaging	Het
Eml5	G	A	12: 98,873,209		probably benign	Het
Fpgs	A	T	2: 32,686,547		probably benign	Het
Gab2	T	C	7: 97,302,443	S537P	possibly damaging	Het
Gmds	G	A	13: 32,234,390	S37L	probably damaging	Het
Ipo13	T	C	4: 117,903,405	E626G	probably benign	Het
Kcng1	T	C	2: 168,268,764	H160R	probably benign	Het
Lama3	A	G	18: 12,580,292	T1608A	probably benign	Het
Lama4	A	C	10: 39,072,805	S855R	probably damaging	Het
Ltbp1	C	T	17: 75,225,338	H454Y	probably damaging	Het
Map3k14	C	A	11: 103,227,579	G594C	probably damaging	Het
Mcph1	A	G	8: 18,632,620	N591S	possibly damaging	Het
Moxd1	G	A	10: 24,279,864	V289I	probably damaging	Het
Mptx2	T	G	1: 173,274,888	N78T	probably damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Nup50	T	A	15: 84,935,404	F293Y	probably benign	Het
Ogn	A	G	13: 49,621,038	Y219C	probably damaging	Het
Pdia3	T	C	2: 121,414,178	L47P	probably damaging	Het
Piwil4	A	T	9: 14,703,097	D786E	probably damaging	Het
Pspc1	A	G	14: 56,771,711	L222P	probably damaging	Het
Ptchd3	T	A	11: 121,831,146	Y282N	probably damaging	Het
Reln	C	A	5: 22,039,565	G805V	possibly damaging	Het
Serpini2	T	C	3: 75,249,242	Y327C	probably damaging	Het
Spire2	A	G	8: 123,354,059	D14G	probably damaging	Het
Stab2	A	T	10: 86,869,206		probably null	Het
Timeless	T	C	10: 128,241,708	L219P	probably damaging	Het
Tmem63a	C	T	1: 180,963,088	T437M	probably damaging	Het
Tslp	A	G	18: 32,815,395		probably benign	Het
Uggt1	T	C	1: 36,179,552		probably benign	Het
Vmn2r118	T	C	17: 55,592,708	E732G	probably damaging	Het
Zfhx2	G	A	14: 55,066,565	P1321S	possibly damaging	Het
Zfp58	A	G	13: 67,490,995	V459A	probably benign	Het
Zfp831	T	C	2: 174,645,658	S709P	possibly damaging	Het

Other mutations in Ttbk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ttbk2	APN	2	120773886	nonsense	probably null
IGL00767:Ttbk2	APN	2	120745745	missense	probably benign
IGL00809:Ttbk2	APN	2	120760269	missense	probably damaging	1.00
IGL01484:Ttbk2	APN	2	120739833	missense	possibly damaging	0.95
IGL01974:Ttbk2	APN	2	120786083	missense	probably damaging	1.00
IGL02488:Ttbk2	APN	2	120755871	missense	probably benign	0.00
IGL02874:Ttbk2	APN	2	120745712	missense	probably damaging	0.99
IGL02893:Ttbk2	APN	2	120783729	missense	probably damaging	1.00
IGL03210:Ttbk2	APN	2	120822492	missense	probably damaging	0.99
R0279:Ttbk2	UTSW	2	120748960	missense	probably benign	0.00
R0362:Ttbk2	UTSW	2	120745783	missense	possibly damaging	0.90
R0376:Ttbk2	UTSW	2	120777581	missense	probably damaging	1.00
R0400:Ttbk2	UTSW	2	120750242	missense	probably benign	0.02
R0601:Ttbk2	UTSW	2	120825296	missense	possibly damaging	0.73
R0606:Ttbk2	UTSW	2	120773872	missense	probably damaging	1.00
R0664:Ttbk2	UTSW	2	120748821	missense	probably damaging	0.99
R0718:Ttbk2	UTSW	2	120745160	missense	probably benign	0.00
R0718:Ttbk2	UTSW	2	120748575	missense	probably benign	0.01
R0783:Ttbk2	UTSW	2	120739977	missense	possibly damaging	0.74
R0906:Ttbk2	UTSW	2	120783781	missense	probably damaging	1.00
R1141:Ttbk2	UTSW	2	120806851	missense	probably damaging	1.00
R1363:Ttbk2	UTSW	2	120806908	critical splice acceptor site	probably null
R1420:Ttbk2	UTSW	2	120745912	missense	probably benign	0.00
R1734:Ttbk2	UTSW	2	120755838	missense	probably benign	0.01
R2033:Ttbk2	UTSW	2	120806849	missense	probably damaging	0.98
R2047:Ttbk2	UTSW	2	120748916	missense	probably damaging	0.99
R2893:Ttbk2	UTSW	2	120745610	splice site	probably null
R3783:Ttbk2	UTSW	2	120773815	splice site	probably benign
R3785:Ttbk2	UTSW	2	120773815	splice site	probably benign
R3870:Ttbk2	UTSW	2	120740019	missense	probably damaging	1.00
R4024:Ttbk2	UTSW	2	120760255	missense	possibly damaging	0.91
R4039:Ttbk2	UTSW	2	120745795	missense	probably benign	0.01
R4060:Ttbk2	UTSW	2	120748984	missense	probably benign	0.26
R4624:Ttbk2	UTSW	2	120773323	missense	probably benign	0.19
R4634:Ttbk2	UTSW	2	120740192	missense	probably damaging	1.00
R4708:Ttbk2	UTSW	2	120739861	missense	probably damaging	1.00
R4727:Ttbk2	UTSW	2	120745370	missense	probably benign	0.01
R4811:Ttbk2	UTSW	2	120740070	missense	possibly damaging	0.62
R4962:Ttbk2	UTSW	2	120745150	missense	probably damaging	1.00
R4964:Ttbk2	UTSW	2	120773277	missense	possibly damaging	0.66
R4966:Ttbk2	UTSW	2	120773277	missense	possibly damaging	0.66
R5369:Ttbk2	UTSW	2	120825262	start gained	probably benign
R5430:Ttbk2	UTSW	2	120777565	missense	probably damaging	1.00
R5607:Ttbk2	UTSW	2	120806824	missense	possibly damaging	0.89
R5812:Ttbk2	UTSW	2	120822559	missense	probably damaging	0.99
R5898:Ttbk2	UTSW	2	120745040	missense	probably benign	0.08
R5951:Ttbk2	UTSW	2	120773283	missense	probably benign	0.02
R6135:Ttbk2	UTSW	2	120750317	missense	probably damaging	1.00
R6889:Ttbk2	UTSW	2	120773353	missense	probably damaging	1.00
R6907:Ttbk2	UTSW	2	120825270	missense	probably benign	0.00
R7013:Ttbk2	UTSW	2	120745784	missense	possibly damaging	0.89
R7128:Ttbk2	UTSW	2	120746088	missense	probably benign	0.00
R7173:Ttbk2	UTSW	2	120740111	missense	probably damaging	1.00
R7358:Ttbk2	UTSW	2	120790310	missense	probably damaging	1.00
R7475:Ttbk2	UTSW	2	120748640	missense	probably benign	0.01
R7891:Ttbk2	UTSW	2	120786029	missense	probably damaging	1.00
R8529:Ttbk2	UTSW	2	120773857	missense	possibly damaging	0.67
R9050:Ttbk2	UTSW	2	120806838	missense	probably benign	0.09
R9051:Ttbk2	UTSW	2	120745430	nonsense	probably null
R9372:Ttbk2	UTSW	2	120773285	missense	probably benign	0.31
R9485:Ttbk2	UTSW	2	120745505	missense	probably benign	0.32
RF010:Ttbk2	UTSW	2	120790339	nonsense	probably null
RF021:Ttbk2	UTSW	2	120748634	missense	probably benign

Posted On

2011-07-12