Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01484:Ttbk2'

88855

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 #

IGL01484

Quality Score

Status

Chromosome

Chromosomal Location

120563297-120681085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120570314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1211 (S1211R)

Ref Sequence

ENSEMBL: ENSMUSP00000083001 (fasta)

Gene Model

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

AlphaFold

Q3UVR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028740
AA Change: S1280R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: S1280R

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: S1211R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: S1211R

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: S1211R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: S1211R

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,579,006 (GRCm39)	H90R	possibly damaging	Het
Arsj	A	G	3: 126,158,685 (GRCm39)	D88G	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Dagla	A	C	19: 10,225,884 (GRCm39)	L760R	possibly damaging	Het
Dnah1	T	C	14: 31,021,897 (GRCm39)	E1202G	probably damaging	Het
Hdac9	T	C	12: 34,487,164 (GRCm39)	H100R	probably damaging	Het
Hhip	T	C	8: 80,723,412 (GRCm39)	H414R	probably damaging	Het
Hk2	G	A	6: 82,713,711 (GRCm39)	T457M	probably damaging	Het
Iapp	A	G	6: 142,249,165 (GRCm39)	T73A	possibly damaging	Het
Ifit1	A	G	19: 34,626,243 (GRCm39)	N460D	probably damaging	Het
Itpa	T	C	2: 130,514,019 (GRCm39)	F77L	probably benign	Het
Knop1	T	C	7: 118,452,032 (GRCm39)	D229G	probably damaging	Het
Lrrc32	T	C	7: 98,143,442 (GRCm39)	I5T	probably damaging	Het
Myo7a	C	T	7: 97,734,629 (GRCm39)	V622M	probably damaging	Het
N4bp1	T	C	8: 87,571,400 (GRCm39)	E866G	probably damaging	Het
Or2t48	A	T	11: 58,420,222 (GRCm39)	W197R	probably benign	Het
Palmd	G	A	3: 116,746,794 (GRCm39)		probably benign	Het
Pcbp4	A	G	9: 106,337,848 (GRCm39)		probably null	Het
Pigf	T	C	17: 87,316,308 (GRCm39)	I157V	probably benign	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Prl7a2	T	A	13: 27,843,191 (GRCm39)	D204V	probably damaging	Het
Rfc3	A	T	5: 151,566,401 (GRCm39)	D349E	probably benign	Het
Sarm1	A	T	11: 78,381,839 (GRCm39)	C215S	probably damaging	Het
Serpine1	T	C	5: 137,092,326 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,520,575 (GRCm39)	V825A	probably damaging	Het
Stx12	A	G	4: 132,611,673 (GRCm39)	S2P	probably damaging	Het
Sycp1	A	C	3: 102,823,183 (GRCm39)	S311R	probably benign	Het
Tfpi	A	T	2: 84,275,169 (GRCm39)	C139*	probably null	Het
Tmc5	T	A	7: 118,256,010 (GRCm39)	I695N	probably damaging	Het
Tmem169	T	C	1: 72,340,263 (GRCm39)	V231A	probably damaging	Het
Ubr3	C	T	2: 69,851,888 (GRCm39)	R1855*	probably null	Het
Urb1	A	T	16: 90,574,448 (GRCm39)	S878T	probably benign	Het
Vmn1r174	T	A	7: 23,453,749 (GRCm39)	Y138*	probably null	Het
Zfp282	A	G	6: 47,867,054 (GRCm39)	N214D	possibly damaging	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
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
IGL02874:Ttbk2	APN	2	120,576,193 (GRCm39)	missense	probably damaging	0.99
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

2013-11-18