Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Ttbk2'

54126

Institutional Source

Beutler Lab

Gene Symbol

Ttbk2

Ensembl Gene

ENSMUSG00000090100

Gene Name

tau tubulin kinase 2

Synonyms

B930008N24Rik, 2610507N02Rik, TTK

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0606 (G1)

Quality Score

103

Status

Validated

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120773872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 215 (M215K)

Ref Sequence

ENSEMBL: ENSMUSP00000121996 (fasta)

Gene Model

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

AlphaFold

Q3UVR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028740
AA Change: M284K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: M284K

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 damaging
Transcript: ENSMUST00000057135
AA Change: M215K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: M215K

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 damaging
Transcript: ENSMUST00000085840
AA Change: M215K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: M215K

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 damaging
Transcript: ENSMUST00000131389
AA Change: M180K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: M180K

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 damaging
Transcript: ENSMUST00000143051
AA Change: M215K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: M215K

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

Meta Mutation Damage Score

0.7444

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,089	Y128H	probably damaging	Het
Actl9	T	C	17: 33,433,598	Y211H	probably damaging	Het
Actn1	A	T	12: 80,174,647		probably benign	Het
Adtrp	A	G	13: 41,767,405	F197L	probably damaging	Het
Ankrd11	G	A	8: 122,892,832	T1406I	probably benign	Het
Arhgap24	A	T	5: 102,897,220	R620W	probably damaging	Het
Atg13	A	G	2: 91,682,073	Y284H	probably benign	Het
Atrn	A	G	2: 130,906,856	E99G	possibly damaging	Het
Cage1	A	T	13: 38,016,494		probably benign	Het
Ccr3	T	A	9: 124,028,802	M58K	probably benign	Het
Cdk18	G	T	1: 132,117,617		probably benign	Het
Chst5	A	G	8: 111,890,919	V23A	probably benign	Het
Col4a3	T	C	1: 82,672,586		probably benign	Het
Col4a6	A	G	X: 141,192,223		probably benign	Het
Csmd3	T	C	15: 48,457,662	I251V	probably benign	Het
Csnk1g3	G	A	18: 53,917,028	V115M	probably damaging	Het
Cst7	A	T	2: 150,570,519	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,527,843	D373V	probably damaging	Het
Dclk2	G	A	3: 86,906,004	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,830,746		probably benign	Het
Dhx58	T	A	11: 100,702,251	H210L	probably benign	Het
Dnah9	T	C	11: 65,841,333	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,048,893	L990H	probably damaging	Het
Faap24	T	C	7: 35,394,963		probably benign	Het
Fryl	T	A	5: 73,124,734	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696	W15R	probably benign	Het
Gif	A	T	19: 11,752,294	I206F	possibly damaging	Het
Gm15446	T	C	5: 109,943,481	V533A	probably benign	Het
Gm6760	T	A	X: 64,151,653	K63*	probably null	Het
Gne	C	T	4: 44,042,244	E444K	possibly damaging	Het
Gpr173	T	A	X: 152,347,040	M146L	possibly damaging	Het
Hira	C	T	16: 18,935,047	S547L	probably benign	Het
Hnf1b	A	G	11: 83,863,984	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,658,390	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,832,588	I40F	probably benign	Het
Hydin	C	T	8: 110,549,798		probably benign	Het
Ift172	A	G	5: 31,254,313	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,959,901	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,504,272	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,261		probably benign	Het
Itgb1	A	T	8: 128,722,372		probably benign	Het
Kctd21	G	A	7: 97,347,601	E94K	probably benign	Het
Kir3dl2	A	G	X: 136,453,511	V233A	possibly damaging	Het
Klra2	A	T	6: 131,220,224	C271S	probably damaging	Het
Lacc1	A	T	14: 77,029,621	C401S	probably damaging	Het
Lmna	T	C	3: 88,482,578	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,150	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,391,389	R116*	probably null	Het
Ndrg2	G	T	14: 51,906,217	R333S	probably damaging	Het
Nf2	A	G	11: 4,782,194	I507T	possibly damaging	Het
Nktr	A	G	9: 121,749,290		probably benign	Het
Nkx3-1	G	A	14: 69,191,006		probably benign	Het
Npat	T	C	9: 53,556,481		probably null	Het
Nrxn1	T	C	17: 90,565,373	N1047S	probably damaging	Het
Nup210	A	T	6: 91,026,929	I1402N	possibly damaging	Het
Olfr1168	G	T	2: 88,185,280	M134I	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdcl2	C	T	5: 76,312,481	S182N	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,840,704	F669L	probably benign	Het
Plekha8	A	G	6: 54,629,820	K367E	probably damaging	Het
Pola1	A	G	X: 93,488,087		probably benign	Het
Ppm1d	C	T	11: 85,345,877	T494I	probably benign	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,314,194		probably benign	Het
Ptprg	T	A	14: 12,154,131	S617R	probably benign	Het
R3hdm2	G	A	10: 127,444,444	G45D	probably damaging	Het
Rev1	T	A	1: 38,059,123	R780W	probably null	Het
Rnf139	T	A	15: 58,899,827	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,514,348	V71A	probably damaging	Het
Shtn1	A	G	19: 58,999,940	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,088,723	H221L	probably benign	Het
Smo	A	C	6: 29,753,604	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,179,300		probably benign	Het
Snf8	G	T	11: 96,034,973		probably benign	Het
Spata31d1a	T	C	13: 59,702,431	S628G	probably benign	Het
Sphkap	A	T	1: 83,280,424	D199E	probably damaging	Het
Stxbp5l	T	C	16: 37,204,521	T572A	possibly damaging	Het
Thada	C	A	17: 84,416,303	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756	Q735R	probably benign	Het
Tmem29	C	T	X: 150,398,364	A144T	probably benign	Het
Trim24	G	A	6: 37,871,234	E42K	probably benign	Het
Trnt1	T	A	6: 106,777,908		probably benign	Het
Ttc8	C	T	12: 98,943,459		probably benign	Het
Ube3c	A	G	5: 29,590,928	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,530,983		probably benign	Het
Usp36	A	G	11: 118,263,028		probably benign	Het
Vmn2r102	T	C	17: 19,678,844	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,588,130	T432A	probably damaging	Het
Wnk1	G	T	6: 119,926,683	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,638,208		probably benign	Het
Zar1	G	T	5: 72,580,543	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,423,610	Y154H	probably benign	Het
Zer1	G	T	2: 30,104,797		probably benign	Het
Zfp454	A	G	11: 50,874,185	F140S	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
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
R9675:Ttbk2	UTSW	2	120806760	missense	probably benign	0.14
RF010:Ttbk2	UTSW	2	120790339	nonsense	probably null
RF021:Ttbk2	UTSW	2	120748634	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGCCCGTGAACTGATAGTCCCC -3'
(R):5'- ACGCACCTATGCAGACATACAGATG -3'

Sequencing Primer
(F):5'- TTCACATCAGAagaaattctgcctc -3'
(R):5'- GCAGACATACAGATGTTTACCAG -3'

Posted On

2013-07-11