Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Ttbk2'

36209

Institutional Source

Beutler Lab

Gene Symbol

Ttbk2

Ensembl Gene

ENSMUSG00000090100

Gene Name

tau tubulin kinase 2

Synonyms

B930008N24Rik, 2610507N02Rik, TTK

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120732816-120850604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120745783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 835 (N835K)

Ref Sequence

ENSEMBL: ENSMUSP00000121996 (fasta)

Gene Model

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

AlphaFold

Q3UVR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028740
AA Change: N904K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: N904K

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: N835K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: N835K

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: N835K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: N835K

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

possibly damaging
Transcript: ENSMUST00000143051
AA Change: N835K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: N835K

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

0.0610

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,732,917 (GRCm38)	Q401R	probably benign	Het
Acpp	A	G	9: 104,314,427 (GRCm38)	F220S	probably damaging	Het
Adam7	A	G	14: 68,509,656 (GRCm38)		probably benign	Het
Adamts6	A	G	13: 104,390,076 (GRCm38)		probably null	Het
Ascc3	T	C	10: 50,748,955 (GRCm38)		probably benign	Het
Atg10	T	C	13: 91,040,990 (GRCm38)		probably null	Het
Atm	T	C	9: 53,458,838 (GRCm38)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,169,616 (GRCm38)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm38)	K1111E	probably damaging	Het
Col11a2	T	A	17: 34,062,446 (GRCm38)		probably null	Het
Ctcfl	A	G	2: 173,118,443 (GRCm38)	W116R	probably damaging	Het
Ctsk	A	T	3: 95,500,944 (GRCm38)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,480,785 (GRCm38)		probably null	Het
Dcdc2b	T	C	4: 129,610,238 (GRCm38)		probably null	Het
Ddx28	C	T	8: 106,011,294 (GRCm38)	R44Q	probably damaging	Het
Dhx29	T	A	13: 112,962,859 (GRCm38)	N1139K	probably benign	Het
Dnah17	A	T	11: 118,098,539 (GRCm38)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,208,609 (GRCm38)	S110G	probably benign	Het
Drc7	T	C	8: 95,072,855 (GRCm38)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm38)		probably null	Het
Ecm1	A	G	3: 95,737,057 (GRCm38)	I152T	possibly damaging	Het
Edc4	C	G	8: 105,886,775 (GRCm38)	P307R	probably damaging	Het
Egr1	A	G	18: 34,863,313 (GRCm38)	T383A	possibly damaging	Het
Eml2	A	G	7: 19,190,806 (GRCm38)		probably null	Het
Eno4	A	G	19: 58,943,624 (GRCm38)		probably benign	Het
Erbb4	A	T	1: 68,330,270 (GRCm38)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,295,662 (GRCm38)	T310K	probably benign	Het
Fam102b	C	T	3: 108,980,181 (GRCm38)	E256K	probably benign	Het
Fam83e	G	T	7: 45,726,969 (GRCm38)	V369L	probably benign	Het
Fam96b	T	C	8: 104,641,590 (GRCm38)	D34G	probably null	Het
Fancc	A	T	13: 63,398,156 (GRCm38)	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,309,777 (GRCm38)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,090,076 (GRCm38)	C826*	probably null	Het
Foxi3	A	G	6: 70,956,628 (GRCm38)	D33G	probably benign	Het
Gcn1l1	T	C	5: 115,576,108 (GRCm38)		probably benign	Het
Gm14221	T	C	2: 160,568,390 (GRCm38)		noncoding transcript	Het
Golga4	T	A	9: 118,555,785 (GRCm38)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,180,933 (GRCm38)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,443,685 (GRCm38)	S90C	probably damaging	Het
Has2	A	C	15: 56,681,661 (GRCm38)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,888,861 (GRCm38)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,457,212 (GRCm38)	V48A	probably benign	Het
Lig1	T	A	7: 13,296,804 (GRCm38)		probably benign	Het
Magi2	A	G	5: 19,227,575 (GRCm38)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,234,994 (GRCm38)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm38)		probably null	Het
Mfsd4a	A	T	1: 132,059,275 (GRCm38)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,109,545 (GRCm38)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,874,304 (GRCm38)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,347,770 (GRCm38)	W990R	probably damaging	Het
Myt1	A	T	2: 181,763,393 (GRCm38)		probably benign	Het
Nf1	C	T	11: 79,536,878 (GRCm38)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,548,797 (GRCm38)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,196,714 (GRCm38)		probably null	Het
Nxf1	T	C	19: 8,764,151 (GRCm38)		probably null	Het
Olfr1352	A	T	10: 78,984,386 (GRCm38)	M199L	probably benign	Het
P4hb	T	C	11: 120,563,336 (GRCm38)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,683,631 (GRCm38)	N243S	probably benign	Het
Parp8	G	A	13: 116,924,968 (GRCm38)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,435,327 (GRCm38)	D543A	probably benign	Het
Pld5	A	T	1: 175,975,580 (GRCm38)	L311*	probably null	Het
Plekha5	G	A	6: 140,591,747 (GRCm38)	R646K	possibly damaging	Het
Plpp5	A	T	8: 25,724,192 (GRCm38)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,478,285 (GRCm38)	L542S	probably damaging	Het
Prkar2b	A	T	12: 31,987,974 (GRCm38)		probably null	Het
Psmg1	A	T	16: 95,987,971 (GRCm38)	S129T	possibly damaging	Het
Radil	T	C	5: 142,543,827 (GRCm38)	D38G	probably benign	Het
Ric1	T	C	19: 29,601,011 (GRCm38)		probably null	Het
Rp1l1	T	A	14: 64,031,066 (GRCm38)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,737,793 (GRCm38)	M1K	probably null	Het
Serpina6	G	T	12: 103,651,949 (GRCm38)	L202I	probably damaging	Het
Simc1	T	C	13: 54,528,467 (GRCm38)	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,658,771 (GRCm38)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,379,941 (GRCm38)		probably benign	Het
Slc34a1	T	A	13: 55,402,898 (GRCm38)		probably null	Het
Slfn10-ps	T	A	11: 83,035,774 (GRCm38)		noncoding transcript	Het
Sohlh2	A	G	3: 55,207,742 (GRCm38)	N383D	probably damaging	Het
Spag6	T	A	2: 18,710,491 (GRCm38)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,546,555 (GRCm38)		probably benign	Het
St3gal4	T	A	9: 35,053,173 (GRCm38)	K199*	probably null	Het
Stat5a	T	A	11: 100,882,083 (GRCm38)	D712E	probably benign	Het
Stmn2	A	T	3: 8,545,690 (GRCm38)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,506,466 (GRCm38)	P20S	possibly damaging	Het
Taf2	A	T	15: 55,045,929 (GRCm38)	V640E	probably damaging	Het
Tbce	T	C	13: 13,998,162 (GRCm38)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,968,940 (GRCm38)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,772,035 (GRCm38)	Y598*	probably null	Het
Ticrr	A	G	7: 79,677,340 (GRCm38)	S599G	probably damaging	Het
Tnc	A	C	4: 64,017,442 (GRCm38)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,325,576 (GRCm38)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,119,059 (GRCm38)		probably benign	Het
Tubgcp5	A	G	7: 55,800,684 (GRCm38)	D181G	probably damaging	Het
Tut1	T	C	19: 8,955,527 (GRCm38)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,787,586 (GRCm38)	C769F	probably benign	Het
Vdac1	T	C	11: 52,374,973 (GRCm38)		probably benign	Het
Vmn2r124	T	C	17: 18,064,224 (GRCm38)		probably null	Het
Vps8	T	C	16: 21,608,227 (GRCm38)		probably benign	Het
Wdr35	T	C	12: 8,995,625 (GRCm38)		probably benign	Het
Zdhhc7	T	A	8: 120,086,647 (GRCm38)	E141V	probably null	Het
Zfp12	C	A	5: 143,245,223 (GRCm38)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,927,394 (GRCm38)		probably benign	Het
Zfyve9	T	A	4: 108,680,969 (GRCm38)	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,721,945 (GRCm38)	S1572T	possibly damaging	Het

Other mutations in Ttbk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ttbk2	APN	2	120,748,833 (GRCm38)	nonsense	probably null
IGL00484:Ttbk2	APN	2	120,773,886 (GRCm38)	nonsense	probably null
IGL00767:Ttbk2	APN	2	120,745,745 (GRCm38)	missense	probably benign
IGL00809:Ttbk2	APN	2	120,760,269 (GRCm38)	missense	probably damaging	1.00
IGL01484:Ttbk2	APN	2	120,739,833 (GRCm38)	missense	possibly damaging	0.95
IGL01974:Ttbk2	APN	2	120,786,083 (GRCm38)	missense	probably damaging	1.00
IGL02488:Ttbk2	APN	2	120,755,871 (GRCm38)	missense	probably benign	0.00
IGL02874:Ttbk2	APN	2	120,745,712 (GRCm38)	missense	probably damaging	0.99
IGL02893:Ttbk2	APN	2	120,783,729 (GRCm38)	missense	probably damaging	1.00
IGL03210:Ttbk2	APN	2	120,822,492 (GRCm38)	missense	probably damaging	0.99
R0279:Ttbk2	UTSW	2	120,748,960 (GRCm38)	missense	probably benign	0.00
R0376:Ttbk2	UTSW	2	120,777,581 (GRCm38)	missense	probably damaging	1.00
R0400:Ttbk2	UTSW	2	120,750,242 (GRCm38)	missense	probably benign	0.02
R0601:Ttbk2	UTSW	2	120,825,296 (GRCm38)	missense	possibly damaging	0.73
R0606:Ttbk2	UTSW	2	120,773,872 (GRCm38)	missense	probably damaging	1.00
R0664:Ttbk2	UTSW	2	120,748,821 (GRCm38)	missense	probably damaging	0.99
R0718:Ttbk2	UTSW	2	120,748,575 (GRCm38)	missense	probably benign	0.01
R0718:Ttbk2	UTSW	2	120,745,160 (GRCm38)	missense	probably benign	0.00
R0783:Ttbk2	UTSW	2	120,739,977 (GRCm38)	missense	possibly damaging	0.74
R0906:Ttbk2	UTSW	2	120,783,781 (GRCm38)	missense	probably damaging	1.00
R1141:Ttbk2	UTSW	2	120,806,851 (GRCm38)	missense	probably damaging	1.00
R1363:Ttbk2	UTSW	2	120,806,908 (GRCm38)	critical splice acceptor site	probably null
R1420:Ttbk2	UTSW	2	120,745,912 (GRCm38)	missense	probably benign	0.00
R1734:Ttbk2	UTSW	2	120,755,838 (GRCm38)	missense	probably benign	0.01
R2033:Ttbk2	UTSW	2	120,806,849 (GRCm38)	missense	probably damaging	0.98
R2047:Ttbk2	UTSW	2	120,748,916 (GRCm38)	missense	probably damaging	0.99
R2893:Ttbk2	UTSW	2	120,745,610 (GRCm38)	splice site	probably null
R3783:Ttbk2	UTSW	2	120,773,815 (GRCm38)	splice site	probably benign
R3785:Ttbk2	UTSW	2	120,773,815 (GRCm38)	splice site	probably benign
R3870:Ttbk2	UTSW	2	120,740,019 (GRCm38)	missense	probably damaging	1.00
R4024:Ttbk2	UTSW	2	120,760,255 (GRCm38)	missense	possibly damaging	0.91
R4039:Ttbk2	UTSW	2	120,745,795 (GRCm38)	missense	probably benign	0.01
R4060:Ttbk2	UTSW	2	120,748,984 (GRCm38)	missense	probably benign	0.26
R4624:Ttbk2	UTSW	2	120,773,323 (GRCm38)	missense	probably benign	0.19
R4634:Ttbk2	UTSW	2	120,740,192 (GRCm38)	missense	probably damaging	1.00
R4708:Ttbk2	UTSW	2	120,739,861 (GRCm38)	missense	probably damaging	1.00
R4727:Ttbk2	UTSW	2	120,745,370 (GRCm38)	missense	probably benign	0.01
R4811:Ttbk2	UTSW	2	120,740,070 (GRCm38)	missense	possibly damaging	0.62
R4962:Ttbk2	UTSW	2	120,745,150 (GRCm38)	missense	probably damaging	1.00
R4964:Ttbk2	UTSW	2	120,773,277 (GRCm38)	missense	possibly damaging	0.66
R4966:Ttbk2	UTSW	2	120,773,277 (GRCm38)	missense	possibly damaging	0.66
R5369:Ttbk2	UTSW	2	120,825,262 (GRCm38)	start gained	probably benign
R5430:Ttbk2	UTSW	2	120,777,565 (GRCm38)	missense	probably damaging	1.00
R5607:Ttbk2	UTSW	2	120,806,824 (GRCm38)	missense	possibly damaging	0.89
R5812:Ttbk2	UTSW	2	120,822,559 (GRCm38)	missense	probably damaging	0.99
R5898:Ttbk2	UTSW	2	120,745,040 (GRCm38)	missense	probably benign	0.08
R5951:Ttbk2	UTSW	2	120,773,283 (GRCm38)	missense	probably benign	0.02
R6135:Ttbk2	UTSW	2	120,750,317 (GRCm38)	missense	probably damaging	1.00
R6889:Ttbk2	UTSW	2	120,773,353 (GRCm38)	missense	probably damaging	1.00
R6907:Ttbk2	UTSW	2	120,825,270 (GRCm38)	missense	probably benign	0.00
R7013:Ttbk2	UTSW	2	120,745,784 (GRCm38)	missense	possibly damaging	0.89
R7128:Ttbk2	UTSW	2	120,746,088 (GRCm38)	missense	probably benign	0.00
R7173:Ttbk2	UTSW	2	120,740,111 (GRCm38)	missense	probably damaging	1.00
R7358:Ttbk2	UTSW	2	120,790,310 (GRCm38)	missense	probably damaging	1.00
R7475:Ttbk2	UTSW	2	120,748,640 (GRCm38)	missense	probably benign	0.01
R7891:Ttbk2	UTSW	2	120,786,029 (GRCm38)	missense	probably damaging	1.00
R8529:Ttbk2	UTSW	2	120,773,857 (GRCm38)	missense	possibly damaging	0.67
R9050:Ttbk2	UTSW	2	120,806,838 (GRCm38)	missense	probably benign	0.09
R9051:Ttbk2	UTSW	2	120,745,430 (GRCm38)	nonsense	probably null
R9372:Ttbk2	UTSW	2	120,773,285 (GRCm38)	missense	probably benign	0.31
R9485:Ttbk2	UTSW	2	120,745,505 (GRCm38)	missense	probably benign	0.32
R9675:Ttbk2	UTSW	2	120,806,760 (GRCm38)	missense	probably benign	0.14
RF010:Ttbk2	UTSW	2	120,790,339 (GRCm38)	nonsense	probably null
RF021:Ttbk2	UTSW	2	120,748,634 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGCCTTGGCAAGCTTTCAC -3'
(R):5'- TTGGGACCAAAAGACCCTCCTGAC -3'

Sequencing Primer
(F):5'- GGCAAGCTTTCACTCTGAATAC -3'
(R):5'- TTTGAACATCTCCCTGGAGAAACAG -3'

Posted On

2013-05-09