Mutagenetix > Incidental Mutations

Incidental Mutation 'R5812:Ttbk2'

447541

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 #

R5812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120822559 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 64 (P64S)

Ref Sequence

ENSEMBL: ENSMUSP00000028740 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028740
AA Change: P64S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: P64S

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

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100

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

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100

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

noncoding transcript
Transcript: ENSMUST00000141921

Predicted Effect

probably benign
Transcript: ENSMUST00000143051

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 138,176,538	S9P	probably damaging	Het
Acsl5	G	A	19: 55,294,836	V615I	probably benign	Het
Ankk1	T	C	9: 49,426,853	K47E	probably benign	Het
Ankrd11	A	T	8: 122,893,805		probably null	Het
Bcl9l	T	C	9: 44,506,644	V593A	probably benign	Het
Cadps	T	C	14: 12,376,685	I1271V	probably benign	Het
Ccdc125	T	C	13: 100,684,304	W152R	probably damaging	Het
Cep192	T	C	18: 67,851,737	V1606A	possibly damaging	Het
Csgalnact1	T	C	8: 68,401,384	N255S	probably benign	Het
Cxxc5	T	A	18: 35,859,056	V170E	probably damaging	Het
Defb6	C	T	8: 19,228,094	R61C	possibly damaging	Het
Dnah10	T	A	5: 124,747,746	N655K	probably benign	Het
Fry	G	A	5: 150,399,671	A1096T	probably damaging	Het
Gli1	C	T	10: 127,337,415	G125S	probably damaging	Het
Gm5538	T	A	3: 59,747,272	Y176N	probably damaging	Het
Igkv14-126	A	T	6: 67,896,440	I51F	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jtb	T	C	3: 90,233,977	S87P	probably benign	Het
Kdm6b	A	T	11: 69,405,929	I504N	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Map2k4	A	G	11: 65,735,205	I136T	probably damaging	Het
March4	T	C	1: 72,428,917	T319A	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,943,418		probably benign	Het
Nt5e	T	C	9: 88,369,055	V459A	probably damaging	Het
Ogdhl	A	G	14: 32,332,865	K257E	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr117	A	G	17: 37,659,739	L198P	probably damaging	Het
Osmr	A	T	15: 6,837,059	V378D	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Pdzd7	G	T	19: 45,036,871	T395K	probably damaging	Het
Rasgef1c	A	G	11: 49,957,143	D35G	probably benign	Het
Rbm19	T	C	5: 120,141,577	F770L	probably damaging	Het
Rit2	C	A	18: 30,975,461	C157F	probably damaging	Het
Slc22a22	A	G	15: 57,256,473		probably null	Het
Slc8b1	T	C	5: 120,513,338		probably null	Het
Speer2	C	A	16: 69,858,895	R14S	possibly damaging	Het
Tas2r105	C	A	6: 131,686,873	L197F	possibly damaging	Het
Tmprss11b	T	A	5: 86,665,098	H113L	possibly damaging	Het
Urb1	A	T	16: 90,804,537	H115Q	probably damaging	Het
Vps13c	T	A	9: 67,982,495		probably benign	Het
Zbtb39	T	A	10: 127,741,560	M1K	probably null	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
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
RF010:Ttbk2	UTSW	2	120790339	nonsense	probably null
RF021:Ttbk2	UTSW	2	120748634	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTAGGCAGATAAGCAACACGG -3'
(R):5'- AGTTGCAGAGAGTCCCCTATC -3'

Sequencing Primer
(F):5'- CTTTTCACTGGACTACCAAAGC -3'
(R):5'- AGAGAGTCCCCTATCCTTCTGAGG -3'

Posted On

2016-12-15