Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Ttbk1'

608144

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46442448-46487675 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46446238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1157 (M1157L)

Ref Sequence

ENSEMBL: ENSMUSP00000044580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047034]

AlphaFold

Q6PCN3

Predicted Effect

probably benign
Transcript: ENSMUST00000047034
AA Change: M1157L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: M1157L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	34	293	3.4e-21	PFAM
Pfam:Pkinase	34	305	1.7e-33	PFAM
low complexity region	320	334	N/A	INTRINSIC
low complexity region	371	395	N/A	INTRINSIC
low complexity region	570	593	N/A	INTRINSIC
low complexity region	611	624	N/A	INTRINSIC
low complexity region	633	653	N/A	INTRINSIC
low complexity region	697	709	N/A	INTRINSIC
coiled coil region	729	776	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	893	913	N/A	INTRINSIC
low complexity region	945	962	N/A	INTRINSIC
low complexity region	1090	1115	N/A	INTRINSIC
low complexity region	1236	1251	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,183,226	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,471,038		probably null	Het
Arpin	A	T	7: 79,927,715	W195R	probably damaging	Het
Asap1	A	G	15: 64,092,076	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,524,224	T1764A	not run	Het
Bmp7	C	A	2: 172,939,991	A27S	probably benign	Het
Ccnh	T	A	13: 85,211,872	Y297*	probably null	Het
Ccno	C	A	13: 112,988,113	D72E	probably benign	Het
Cd70	T	G	17: 57,148,770	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,687,400		probably null	Het
Chst4	A	G	8: 110,030,913	F106S	probably damaging	Het
Cntnap3	A	C	13: 64,903,773	L23R	probably benign	Het
Crybg2	T	A	4: 134,087,599	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,935,671		probably null	Het
Cyfip2	T	C	11: 46,242,350	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 71,988,643	P498S	possibly damaging	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dnah3	T	A	7: 119,967,552	I97F		Het
Entpd3	A	G	9: 120,560,586	R313G	possibly damaging	Het
Erg28	G	A	12: 85,819,479	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,225,384	H518R	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Galntl6	T	C	8: 57,837,188	E457G	probably damaging	Het
Glt8d1	A	T	14: 31,010,339	H192L	probably damaging	Het
Gm15446	T	A	5: 109,943,299	C472*	probably null	Het
Gm28363	A	T	1: 117,697,498	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gstp3	T	A	19: 4,058,746	K45*	probably null	Het
Hsd17b13	A	G	5: 103,965,815	F258L	possibly damaging	Het
Htt	T	C	5: 34,864,649	S1646P	probably benign	Het
Ipo11	T	C	13: 106,892,468	M326V	probably benign	Het
Itpr3	T	A	17: 27,117,179	I2293N	probably damaging	Het
Klk8	A	G	7: 43,799,326		probably null	Het
Kntc1	T	A	5: 123,784,227	L963H	probably damaging	Het
Lyst	T	A	13: 13,636,052	L769*	probably null	Het
Map3k13	A	G	16: 21,921,596	S558G	probably benign	Het
Mbd1	G	A	18: 74,274,057		probably null	Het
Mep1a	T	C	17: 43,479,235	N408D	probably benign	Het
Mtrf1	A	G	14: 79,406,938	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935	S1603L	unknown	Het
Myo1b	A	C	1: 51,779,580	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,807,103	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,798,496	K618*	probably null	Het
Ncstn	T	C	1: 172,075,456	D87G	probably benign	Het
Neurl4	T	C	11: 69,903,186	V156A	probably benign	Het
Nfasc	C	A	1: 132,600,013	G885V	not run	Het
Nox4	A	T	7: 87,314,127	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,623,251	T449A	probably benign	Het
Olfr799	A	G	10: 129,647,412	I95V	probably benign	Het
Pik3r4	T	C	9: 105,663,117	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 95,001,909	I645T	probably damaging	Het
Rras2	G	A	7: 114,117,548		probably benign	Het
Rtel1	T	C	2: 181,321,029	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,273,153	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,559,085	H280R	not run	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Skor1	T	C	9: 63,146,501	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,263,355	N106I	possibly damaging	Het
Slc44a4	T	A	17: 34,923,852		probably null	Het
Sppl2c	A	G	11: 104,188,516		probably null	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stx5a	T	A	19: 8,755,118	W384R	unknown	Het
Topaz1	A	G	9: 122,780,700	Y1111C	possibly damaging	Het
Ttn	T	C	2: 76,717,215	T32204A	probably benign	Het
Ttn	T	C	2: 76,748,145	T24135A	probably damaging	Het
Ttn	T	C	2: 76,965,137	E632G	unknown	Het
Vmn2r109	T	C	17: 20,540,520	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,623,661	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,181,065	D271G	probably damaging	Het
Zfp629	A	G	7: 127,611,995	F214S	probably damaging	Het
Zfp709	A	G	8: 71,889,464	I246V	probably benign	Het

Other mutations in Ttbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Ttbk1	APN	17	46447063	missense	probably damaging	1.00
IGL02469:Ttbk1	APN	17	46470630	missense	possibly damaging	0.77
IGL02826:Ttbk1	APN	17	46470660	missense	probably benign
IGL02874:Ttbk1	APN	17	46470225	missense	probably benign	0.10
IGL02948:Ttbk1	APN	17	46446330	missense	probably benign	0.44
IGL03037:Ttbk1	APN	17	46446330	missense	probably benign	0.44
R0165:Ttbk1	UTSW	17	46478938	missense	possibly damaging	0.70
R1186:Ttbk1	UTSW	17	46467131	missense	probably damaging	1.00
R1228:Ttbk1	UTSW	17	46476712	critical splice donor site	probably null
R1423:Ttbk1	UTSW	17	46446154	splice site	probably benign
R1477:Ttbk1	UTSW	17	46476799	missense	probably benign	0.05
R1960:Ttbk1	UTSW	17	46480224	missense	probably damaging	0.99
R1961:Ttbk1	UTSW	17	46480224	missense	probably damaging	0.99
R4043:Ttbk1	UTSW	17	46446762	missense	probably benign	0.21
R4190:Ttbk1	UTSW	17	46479247	missense	probably damaging	1.00
R4192:Ttbk1	UTSW	17	46479247	missense	probably damaging	1.00
R4193:Ttbk1	UTSW	17	46479247	missense	probably damaging	1.00
R4660:Ttbk1	UTSW	17	46477788	nonsense	probably null
R5383:Ttbk1	UTSW	17	46467416	missense	probably damaging	1.00
R5385:Ttbk1	UTSW	17	46447632	missense	probably benign	0.00
R5715:Ttbk1	UTSW	17	46479207	missense	probably damaging	0.99
R6218:Ttbk1	UTSW	17	46470807	missense	possibly damaging	0.47
R6263:Ttbk1	UTSW	17	46467262	missense	probably damaging	1.00
R6471:Ttbk1	UTSW	17	46467277	missense	probably benign
R6537:Ttbk1	UTSW	17	46470310	missense	probably damaging	0.98
R6552:Ttbk1	UTSW	17	46478962	missense	probably benign	0.14
R7564:Ttbk1	UTSW	17	46476931	missense	possibly damaging	0.66
R7853:Ttbk1	UTSW	17	46447343	missense	probably benign	0.00
R7873:Ttbk1	UTSW	17	46446568	missense	probably damaging	1.00
R7908:Ttbk1	UTSW	17	46478938	missense	probably damaging	1.00
R8210:Ttbk1	UTSW	17	46480161	missense	possibly damaging	0.95
R8236:Ttbk1	UTSW	17	46470729	missense	probably damaging	1.00
R8754:Ttbk1	UTSW	17	46445201	nonsense	probably null
R8829:Ttbk1	UTSW	17	46446895	missense	probably damaging	1.00
R8870:Ttbk1	UTSW	17	46470735	missense	probably damaging	1.00
R9091:Ttbk1	UTSW	17	46470591	missense	possibly damaging	0.48
R9135:Ttbk1	UTSW	17	46479206	nonsense	probably null
R9270:Ttbk1	UTSW	17	46470591	missense	possibly damaging	0.48
R9605:Ttbk1	UTSW	17	46473590	missense	possibly damaging	0.77
R9609:Ttbk1	UTSW	17	46447222	missense	probably damaging	0.99
R9617:Ttbk1	UTSW	17	46447072	missense	probably damaging	1.00
X0066:Ttbk1	UTSW	17	46446856	missense	possibly damaging	0.74
Z1088:Ttbk1	UTSW	17	46446325	missense	probably benign	0.35
Z1176:Ttbk1	UTSW	17	46460911	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TCTGAGGGCATCATAGTCCC -3'
(R):5'- ATGCTATGCCAGGATCTCGC -3'

Sequencing Primer
(F):5'- GTCCCTAACATTGGCTCTGAGAAG -3'
(R):5'- TTGTCTGAAGAGGATACAGGCTC -3'

Posted On

2019-12-20