Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02874:Ttbk2'

362634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttbk2

Ensembl Gene

ENSMUSG00000090100

Gene Name

tau tubulin kinase 2

Synonyms

2610507N02Rik, B930008N24Rik, TTK

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02874

Quality Score

Status

Chromosome

Chromosomal Location

120563297-120681085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120576193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 928 (D928V)

Ref Sequence

ENSEMBL: ENSMUSP00000028740 (fasta)

Gene Model

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

AlphaFold

Q3UVR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028740
AA Change: D928V

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

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: D928V

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: D859V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: D859V

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: D859V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: D859V

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 damaging
Transcript: ENSMUST00000143051
AA Change: D859V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: D859V

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a2	A	G	14: 60,039,701 (GRCm39)	Y876H	probably damaging	Het
Cfap65	G	A	1: 74,950,267 (GRCm39)	Q1161*	probably null	Het
Chrd	C	T	16: 20,553,946 (GRCm39)	T282I	probably damaging	Het
Clasp1	T	C	1: 118,479,773 (GRCm39)	S749P	possibly damaging	Het
Clec4a3	T	A	6: 122,944,519 (GRCm39)	N188K	probably benign	Het
Dmpk	A	G	7: 18,820,926 (GRCm39)	M181V	possibly damaging	Het
Dnah7a	A	T	1: 53,644,973 (GRCm39)	M1021K	possibly damaging	Het
Exoc5	A	T	14: 49,288,903 (GRCm39)	N48K	probably benign	Het
Golga1	A	G	2: 38,929,104 (GRCm39)	L338P	probably damaging	Het
Hdc	T	A	2: 126,443,596 (GRCm39)	T334S	probably benign	Het
Idh2	A	G	7: 79,747,621 (GRCm39)	S300P	probably damaging	Het
Igkv4-78	T	C	6: 69,037,190 (GRCm39)	I7V	probably benign	Het
Impdh1	A	T	6: 29,203,155 (GRCm39)	M389K	probably damaging	Het
Kcnd2	T	A	6: 21,216,922 (GRCm39)	C209S	probably damaging	Het
Or11g25	G	T	14: 50,723,686 (GRCm39)	C257F	possibly damaging	Het
Or4q3	A	T	14: 50,583,583 (GRCm39)	H105Q	probably damaging	Het
Or56b2	C	A	7: 104,337,230 (GRCm39)	Q3K	probably benign	Het
Ovol1	T	C	19: 5,601,209 (GRCm39)	K194R	probably damaging	Het
Pcdh17	A	T	14: 84,685,680 (GRCm39)	I716F	possibly damaging	Het
Pck1	T	C	2: 172,997,042 (GRCm39)	I228T	probably damaging	Het
Pla2g2a	T	C	4: 138,562,159 (GRCm39)	F132L	probably benign	Het
Prex1	A	G	2: 166,426,967 (GRCm39)	V1086A	probably damaging	Het
Rasd2	T	C	8: 75,945,327 (GRCm39)	I52T	probably damaging	Het
Robo1	T	C	16: 72,809,806 (GRCm39)	Y1185H	probably damaging	Het
Sema6c	T	G	3: 95,077,688 (GRCm39)	V441G	probably damaging	Het
Slc9a4	A	T	1: 40,623,198 (GRCm39)	M146L	probably benign	Het
Thsd4	C	T	9: 60,160,013 (GRCm39)	V358I	probably damaging	Het
Ttbk1	T	C	17: 46,781,151 (GRCm39)	E474G	probably benign	Het
Ttn	C	T	2: 76,641,522 (GRCm39)	G11779S	probably damaging	Het
Wfdc6b	T	C	2: 164,459,368 (GRCm39)		probably null	Het

Other mutations in Ttbk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ttbk2	APN	2	120,579,314 (GRCm39)	nonsense	probably null
IGL00484:Ttbk2	APN	2	120,604,367 (GRCm39)	nonsense	probably null
IGL00767:Ttbk2	APN	2	120,576,226 (GRCm39)	missense	probably benign
IGL00809:Ttbk2	APN	2	120,590,750 (GRCm39)	missense	probably damaging	1.00
IGL01484:Ttbk2	APN	2	120,570,314 (GRCm39)	missense	possibly damaging	0.95
IGL01974:Ttbk2	APN	2	120,616,564 (GRCm39)	missense	probably damaging	1.00
IGL02488:Ttbk2	APN	2	120,586,352 (GRCm39)	missense	probably benign	0.00
IGL02893:Ttbk2	APN	2	120,614,210 (GRCm39)	missense	probably damaging	1.00
IGL03210:Ttbk2	APN	2	120,652,973 (GRCm39)	missense	probably damaging	0.99
R0279:Ttbk2	UTSW	2	120,579,441 (GRCm39)	missense	probably benign	0.00
R0362:Ttbk2	UTSW	2	120,576,264 (GRCm39)	missense	possibly damaging	0.90
R0376:Ttbk2	UTSW	2	120,608,062 (GRCm39)	missense	probably damaging	1.00
R0400:Ttbk2	UTSW	2	120,580,723 (GRCm39)	missense	probably benign	0.02
R0601:Ttbk2	UTSW	2	120,655,777 (GRCm39)	missense	possibly damaging	0.73
R0606:Ttbk2	UTSW	2	120,604,353 (GRCm39)	missense	probably damaging	1.00
R0664:Ttbk2	UTSW	2	120,579,302 (GRCm39)	missense	probably damaging	0.99
R0718:Ttbk2	UTSW	2	120,579,056 (GRCm39)	missense	probably benign	0.01
R0718:Ttbk2	UTSW	2	120,575,641 (GRCm39)	missense	probably benign	0.00
R0783:Ttbk2	UTSW	2	120,570,458 (GRCm39)	missense	possibly damaging	0.74
R0906:Ttbk2	UTSW	2	120,614,262 (GRCm39)	missense	probably damaging	1.00
R1141:Ttbk2	UTSW	2	120,637,332 (GRCm39)	missense	probably damaging	1.00
R1363:Ttbk2	UTSW	2	120,637,389 (GRCm39)	critical splice acceptor site	probably null
R1420:Ttbk2	UTSW	2	120,576,393 (GRCm39)	missense	probably benign	0.00
R1734:Ttbk2	UTSW	2	120,586,319 (GRCm39)	missense	probably benign	0.01
R2033:Ttbk2	UTSW	2	120,637,330 (GRCm39)	missense	probably damaging	0.98
R2047:Ttbk2	UTSW	2	120,579,397 (GRCm39)	missense	probably damaging	0.99
R2893:Ttbk2	UTSW	2	120,576,091 (GRCm39)	splice site	probably null
R3783:Ttbk2	UTSW	2	120,604,296 (GRCm39)	splice site	probably benign
R3785:Ttbk2	UTSW	2	120,604,296 (GRCm39)	splice site	probably benign
R3870:Ttbk2	UTSW	2	120,570,500 (GRCm39)	missense	probably damaging	1.00
R4024:Ttbk2	UTSW	2	120,590,736 (GRCm39)	missense	possibly damaging	0.91
R4039:Ttbk2	UTSW	2	120,576,276 (GRCm39)	missense	probably benign	0.01
R4060:Ttbk2	UTSW	2	120,579,465 (GRCm39)	missense	probably benign	0.26
R4624:Ttbk2	UTSW	2	120,603,804 (GRCm39)	missense	probably benign	0.19
R4634:Ttbk2	UTSW	2	120,570,673 (GRCm39)	missense	probably damaging	1.00
R4708:Ttbk2	UTSW	2	120,570,342 (GRCm39)	missense	probably damaging	1.00
R4727:Ttbk2	UTSW	2	120,575,851 (GRCm39)	missense	probably benign	0.01
R4811:Ttbk2	UTSW	2	120,570,551 (GRCm39)	missense	possibly damaging	0.62
R4962:Ttbk2	UTSW	2	120,575,631 (GRCm39)	missense	probably damaging	1.00
R4964:Ttbk2	UTSW	2	120,603,758 (GRCm39)	missense	possibly damaging	0.66
R4966:Ttbk2	UTSW	2	120,603,758 (GRCm39)	missense	possibly damaging	0.66
R5369:Ttbk2	UTSW	2	120,655,743 (GRCm39)	start gained	probably benign
R5430:Ttbk2	UTSW	2	120,608,046 (GRCm39)	missense	probably damaging	1.00
R5607:Ttbk2	UTSW	2	120,637,305 (GRCm39)	missense	possibly damaging	0.89
R5812:Ttbk2	UTSW	2	120,653,040 (GRCm39)	missense	probably damaging	0.99
R5898:Ttbk2	UTSW	2	120,575,521 (GRCm39)	missense	probably benign	0.08
R5951:Ttbk2	UTSW	2	120,603,764 (GRCm39)	missense	probably benign	0.02
R6135:Ttbk2	UTSW	2	120,580,798 (GRCm39)	missense	probably damaging	1.00
R6889:Ttbk2	UTSW	2	120,603,834 (GRCm39)	missense	probably damaging	1.00
R6907:Ttbk2	UTSW	2	120,655,751 (GRCm39)	missense	probably benign	0.00
R7013:Ttbk2	UTSW	2	120,576,265 (GRCm39)	missense	possibly damaging	0.89
R7128:Ttbk2	UTSW	2	120,576,569 (GRCm39)	missense	probably benign	0.00
R7173:Ttbk2	UTSW	2	120,570,592 (GRCm39)	missense	probably damaging	1.00
R7358:Ttbk2	UTSW	2	120,620,791 (GRCm39)	missense	probably damaging	1.00
R7475:Ttbk2	UTSW	2	120,579,121 (GRCm39)	missense	probably benign	0.01
R7891:Ttbk2	UTSW	2	120,616,510 (GRCm39)	missense	probably damaging	1.00
R8529:Ttbk2	UTSW	2	120,604,338 (GRCm39)	missense	possibly damaging	0.67
R9050:Ttbk2	UTSW	2	120,637,319 (GRCm39)	missense	probably benign	0.09
R9051:Ttbk2	UTSW	2	120,575,911 (GRCm39)	nonsense	probably null
R9372:Ttbk2	UTSW	2	120,603,766 (GRCm39)	missense	probably benign	0.31
R9485:Ttbk2	UTSW	2	120,575,986 (GRCm39)	missense	probably benign	0.32
R9675:Ttbk2	UTSW	2	120,637,241 (GRCm39)	missense	probably benign	0.14
RF010:Ttbk2	UTSW	2	120,620,820 (GRCm39)	nonsense	probably null
RF021:Ttbk2	UTSW	2	120,579,115 (GRCm39)	missense	probably benign

Posted On

2015-12-18