Mutagenetix > Incidental Mutations

Incidental Mutation 'RF010:Ttbk2'

603115

Institutional Source

Beutler Lab

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 #

RF010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 120790339 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 147 (C147*)

Ref Sequence

ENSEMBL: ENSMUSP00000028740 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000028740
AA Change: C147*

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: C147*

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: C78*

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: C78*

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: C78*

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: C78*

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: ENSMUST00000131389
AA Change: C78*

SMART Domains

Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: C78*

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: C78*

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: C78*

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,568,576		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Ankrd28	A	G	14: 31,778,986	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 20,943,911		probably null	Het
B020031M17Rik	A	T	13: 119,950,046	V8E	probably benign	Het
Bend3	T	A	10: 43,510,184	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,141,273		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,947,860		probably benign	Het
Chga	GCA	GCATCA	12: 102,561,403		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 95,303,650		probably null	Het
Cnot3	T	C	7: 3,656,069	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,286,795	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,677,563	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,762,175		probably null	Het
Fmn2	T	A	1: 174,582,015	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 75,000,011		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,060		probably benign	Het
Gli3	A	G	13: 15,726,369	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,913,732	V297A	probably benign	Het
Ifi213	C	G	1: 173,582,153	D462H	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 93,018,290		probably benign	Het
Lpo	A	G	11: 87,821,102	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,306,318		probably benign	Het
Mapk9	A	G	11: 49,854,256		probably benign	Het
Mep1a	G	A	17: 43,486,235	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	AC	ACTTCC	11: 67,086,359		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,627,584		probably benign	Het
Olfr1118	T	A	2: 87,308,840	V37E	possibly damaging	Het
Olfr305	T	C	7: 86,363,386	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,113,451		probably null	Het
Pfkm	T	A	15: 98,129,793	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,626,495		probably null	Het
Prkce	T	C	17: 86,488,199	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,592,263	S93P	probably damaging	Het
Rfc4	T	C	16: 23,127,482	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,858,487		probably benign	Het
Ryr3	G	T	2: 112,775,670	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 23,945,351		probably benign	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sec63	C	A	10: 42,806,624	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,355		probably benign	Het
Slco5a1	G	A	1: 12,871,947	T825I	probably damaging	Het
Stard8	GGA	GGAAGA	X: 99,066,517		probably benign	Het
Stxbp1	A	G	2: 32,821,915	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Syne1	T	A	10: 5,246,386	D3882V	possibly damaging	Het
T	A	G	17: 8,441,708	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,836,940		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,744		probably benign	Het
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,107		probably benign	Het
Thegl	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,016,427		probably benign	Het
Thumpd3	C	T	6: 113,056,045	A248V	probably damaging	Het
Tmem181a	T	C	17: 6,280,703		probably null	Het
Tmem56	T	A	3: 121,228,884	I103L	probably benign	Het
Trim41	A	T	11: 48,807,338	H600Q	probably damaging	Het
Ttll2	C	T	17: 7,351,338	A397T	probably benign	Het
Unc79	T	A	12: 103,112,787	L1737Q	probably benign	Het
Usp47	T	A	7: 112,092,938	V869E	probably damaging	Het
Vmn1r231	T	A	17: 20,889,993	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,039,489	T304I	possibly damaging	Het
Wdr66	TCTCA	T	5: 123,274,161		probably benign	Het
Wrn	T	C	8: 33,288,765	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,036,488		probably benign	Het
Zfyve26	C	T	12: 79,255,338	C1828Y	probably damaging	Het
Znrd1as	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 36,965,063		probably benign	Het

Other mutations in Ttbk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ttbk2	APN	2	120748833	nonsense	probably null
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	unclassified	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
R7974:Ttbk2	UTSW	2	120786029	missense	probably damaging	1.00
RF021:Ttbk2	UTSW	2	120748634	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGCACTTCATCTGTTCAGC -3'
(R):5'- CCTTACTGTATCTGCTCAGGG -3'

Sequencing Primer
(F):5'- CACTTCATCTGTTCAGCATACATAAG -3'
(R):5'- TTATTTGAGTATTCAAGGAGCAGAGG -3'

Posted On

2019-12-04