Mutagenetix > Incidental Mutations

Incidental Mutation 'RF021:Ttbk2'

603861

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 #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120748634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 669 (V669A)

Ref Sequence

ENSEMBL: ENSMUSP00000028740 (fasta)

Gene Model

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

AlphaFold

Q3UVR3

Predicted Effect

probably benign
Transcript: ENSMUST00000028740
AA Change: V669A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: V669A

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 benign
Transcript: ENSMUST00000057135
AA Change: V600A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: V600A

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: ENSMUST00000085840
AA Change: V600A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: V600A

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 benign
Transcript: ENSMUST00000143051
AA Change: V600A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: V600A

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: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly damaging	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	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
RF010:Ttbk2	UTSW	2	120790339	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACAAAAGCCATTTCTTACCGC -3'
(R):5'- AACTTAAGCTCTTGCAAACAGG -3'

Sequencing Primer
(F):5'- ATTTCTTACCGCAGTCAGGG -3'
(R):5'- CTCTTGCAAACAGGAGGTTGATTCC -3'

Posted On

2019-12-04