Mutagenetix > Incidental Mutations

Incidental Mutation 'R5607:Ttbk2'

439321

Institutional Source

Beutler Lab

Gene Symbol

Ttbk2

Ensembl Gene

ENSMUSG00000090100

Gene Name

tau tubulin kinase 2

Synonyms

B930008N24Rik, 2610507N02Rik, TTK

MMRRC Submission

043271-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120806824 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 51 (V51A)

Ref Sequence

ENSEMBL: ENSMUSP00000083001 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028740
AA Change: V120A

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: V120A

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

possibly damaging
Transcript: ENSMUST00000057135
AA Change: V51A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: V51A

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

possibly damaging
Transcript: ENSMUST00000085840
AA Change: V51A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: V51A

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
AA Change: V51A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: V51A

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
AA Change: V51A

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: V51A

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

0.1267

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 83,937,257	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,432,204	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,877,018	F851S	probably damaging	Het
Blvrb	C	T	7: 27,459,469	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,857,522	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,471,340	N1027I	probably benign	Het
Cacng4	A	T	11: 107,734,784	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143	V199A	probably damaging	Het
Cdh13	A	T	8: 118,757,474	D158V	probably benign	Het
Cenpe	C	A	3: 135,235,076	S662*	probably null	Het
Ctnna1	A	G	18: 35,249,742	D647G	probably benign	Het
Dennd5a	C	A	7: 109,919,423	E480*	probably null	Het
Exoc6	T	A	19: 37,578,529	V258D	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fmn2	G	A	1: 174,609,811	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,283,842	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,734,097		probably benign	Het
Lig1	C	A	7: 13,306,008	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,689,845		probably null	Het
Mcm6	T	C	1: 128,355,589	T60A	probably damaging	Het
Mex3c	T	A	18: 73,589,943	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,439,412	Y428H	probably damaging	Het
Msh6	A	G	17: 87,986,901	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,863,944	V933A	probably damaging	Het
Nepn	A	T	10: 52,401,137	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,246	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,239,771	T199A	probably benign	Het
Obscn	T	G	11: 59,122,848	K1150Q	probably benign	Het
Olfr1354	A	G	10: 78,917,099	I86M	possibly damaging	Het
Olfr536	A	C	7: 140,504,405	V18G	probably benign	Het
Olfr591	T	C	7: 103,172,849	T263A	probably damaging	Het
Olfr617	G	A	7: 103,584,299	W92*	probably null	Het
Olfr862	T	A	9: 19,883,976	M110L	probably benign	Het
Otop1	G	A	5: 38,294,504	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,260,375	D494Y	probably damaging	Het
Pop5	G	A	5: 115,240,201	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,833,789	D518G	probably benign	Het
Preb	G	T	5: 30,959,963		probably benign	Het
Qrfpr	A	G	3: 36,180,965	V292A	possibly damaging	Het
Rag1	G	A	2: 101,643,792	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,997,086	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,714,953	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,685,586	N649D	probably benign	Het
Smarcal1	A	G	1: 72,586,213	D173G	probably benign	Het
Smg7	A	G	1: 152,843,234	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,129,150	S796T	possibly damaging	Het
Tex14	A	G	11: 87,522,578	T1052A	probably benign	Het
Tspan1	A	G	4: 116,164,080	V109A	possibly damaging	Het
Tubgcp6	A	G	15: 89,111,150	V419A	probably benign	Het
Ubr2	G	T	17: 46,934,200	C1633*	probably null	Het
Uggt2	C	T	14: 119,089,199	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,828,359	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,906,992	G388S	probably 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
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
RF010:Ttbk2	UTSW	2	120790339	nonsense	probably null
RF021:Ttbk2	UTSW	2	120748634	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTGTTTATAACTAGCTAACACCAG -3'
(R):5'- CTGTAGACAAATCTGTAGGACAGTG -3'

Sequencing Primer
(F):5'- CCAGAGTGGTCCATTAGTATAGAG -3'
(R):5'- TGTGTTTTTCTTGCTGTATAAATGAC -3'

Posted On

2016-10-26