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

C330008L01Rik

MMRRC Submission

045923-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.529) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46753374-46798601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46757164 bp (GRCm39)

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: 113,331,092 (GRCm39)	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,864 (GRCm39)		probably null	Het
Arpin	A	T	7: 79,577,463 (GRCm39)	W195R	probably damaging	Het
Asap1	A	G	15: 63,963,925 (GRCm39)	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,657,281 (GRCm39)	T1764A	not run	Het
Bmp7	C	A	2: 172,781,784 (GRCm39)	A27S	probably benign	Het
Ccnh	T	A	13: 85,359,991 (GRCm39)	Y297*	probably null	Het
Ccno	C	A	13: 113,124,647 (GRCm39)	D72E	probably benign	Het
Cd70	T	G	17: 57,455,770 (GRCm39)	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,514,966 (GRCm39)		probably null	Het
Chst4	A	G	8: 110,757,545 (GRCm39)	F106S	probably damaging	Het
Cntnap3	A	C	13: 65,051,587 (GRCm39)	L23R	probably benign	Het
Crybg2	T	A	4: 133,814,910 (GRCm39)	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,777,591 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,133,177 (GRCm39)	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 72,742,487 (GRCm39)	P498S	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dnah3	T	A	7: 119,566,775 (GRCm39)	I97F		Het
Entpd3	A	G	9: 120,389,652 (GRCm39)	R313G	possibly damaging	Het
Erg28	G	A	12: 85,866,253 (GRCm39)	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,226,421 (GRCm39)	H518R	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Galntl6	T	C	8: 58,290,222 (GRCm39)	E457G	probably damaging	Het
Glt8d1	A	T	14: 30,732,296 (GRCm39)	H192L	probably damaging	Het
Gm15446	T	A	5: 110,091,165 (GRCm39)	C472*	probably null	Het
Gm28363	A	T	1: 117,625,228 (GRCm39)	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gstp3	T	A	19: 4,108,746 (GRCm39)	K45*	probably null	Het
Hsd17b13	A	G	5: 104,113,681 (GRCm39)	F258L	possibly damaging	Het
Htt	T	C	5: 35,021,993 (GRCm39)	S1646P	probably benign	Het
Ipo11	T	C	13: 107,028,976 (GRCm39)	M326V	probably benign	Het
Itpr3	T	A	17: 27,336,153 (GRCm39)	I2293N	probably damaging	Het
Klk1b8	A	G	7: 43,448,750 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,922,290 (GRCm39)	L963H	probably damaging	Het
Lyst	T	A	13: 13,810,637 (GRCm39)	L769*	probably null	Het
Map3k13	A	G	16: 21,740,346 (GRCm39)	S558G	probably benign	Het
Mbd1	G	A	18: 74,407,128 (GRCm39)		probably null	Het
Mep1a	T	C	17: 43,790,126 (GRCm39)	N408D	probably benign	Het
Mtrf1	A	G	14: 79,644,378 (GRCm39)	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935 (GRCm38)	S1603L	unknown	Het
Myo1b	A	C	1: 51,818,739 (GRCm39)	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,964,446 (GRCm39)	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,352,233 (GRCm39)	K618*	probably null	Het
Ncstn	T	C	1: 171,903,023 (GRCm39)	D87G	probably benign	Het
Neurl4	T	C	11: 69,794,012 (GRCm39)	V156A	probably benign	Het
Nfasc	C	A	1: 132,527,751 (GRCm39)	G885V	not run	Het
Nox4	A	T	7: 86,963,335 (GRCm39)	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,860,700 (GRCm39)	T449A	probably benign	Het
Or6c209	A	G	10: 129,483,281 (GRCm39)	I95V	probably benign	Het
Pik3r4	T	C	9: 105,540,316 (GRCm39)	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,735 (GRCm39)	I645T	probably damaging	Het
Rras2	G	A	7: 113,716,783 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,962,822 (GRCm39)	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,200,883 (GRCm39)	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,429 (GRCm39)	H280R	not run	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Skor1	T	C	9: 63,053,783 (GRCm39)	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,126,751 (GRCm39)	N106I	possibly damaging	Het
Slc44a4	T	A	17: 35,142,828 (GRCm39)		probably null	Het
Sppl2c	A	G	11: 104,079,342 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stx5a	T	A	19: 8,732,482 (GRCm39)	W384R	unknown	Het
Topaz1	A	G	9: 122,609,765 (GRCm39)	Y1111C	possibly damaging	Het
Ttn	T	C	2: 76,578,489 (GRCm39)	T24135A	probably damaging	Het
Ttn	T	C	2: 76,795,481 (GRCm39)	E632G	unknown	Het
Ttn	T	C	2: 76,547,559 (GRCm39)	T32204A	probably benign	Het
Vmn2r109	T	C	17: 20,760,782 (GRCm39)	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,272,869 (GRCm39)	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,071,077 (GRCm39)	D271G	probably damaging	Het
Zfp629	A	G	7: 127,211,167 (GRCm39)	F214S	probably damaging	Het
Zfp709	A	G	8: 72,643,308 (GRCm39)	I246V	probably benign	Het

Other mutations in Ttbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Ttbk1	APN	17	46,757,989 (GRCm39)	missense	probably damaging	1.00
IGL02469:Ttbk1	APN	17	46,781,556 (GRCm39)	missense	possibly damaging	0.77
IGL02826:Ttbk1	APN	17	46,781,586 (GRCm39)	missense	probably benign
IGL02874:Ttbk1	APN	17	46,781,151 (GRCm39)	missense	probably benign	0.10
IGL02948:Ttbk1	APN	17	46,757,256 (GRCm39)	missense	probably benign	0.44
IGL03037:Ttbk1	APN	17	46,757,256 (GRCm39)	missense	probably benign	0.44
R0165:Ttbk1	UTSW	17	46,789,864 (GRCm39)	missense	possibly damaging	0.70
R1186:Ttbk1	UTSW	17	46,778,057 (GRCm39)	missense	probably damaging	1.00
R1228:Ttbk1	UTSW	17	46,787,638 (GRCm39)	critical splice donor site	probably null
R1423:Ttbk1	UTSW	17	46,757,080 (GRCm39)	splice site	probably benign
R1477:Ttbk1	UTSW	17	46,787,725 (GRCm39)	missense	probably benign	0.05
R1960:Ttbk1	UTSW	17	46,791,150 (GRCm39)	missense	probably damaging	0.99
R1961:Ttbk1	UTSW	17	46,791,150 (GRCm39)	missense	probably damaging	0.99
R4043:Ttbk1	UTSW	17	46,757,688 (GRCm39)	missense	probably benign	0.21
R4190:Ttbk1	UTSW	17	46,790,173 (GRCm39)	missense	probably damaging	1.00
R4192:Ttbk1	UTSW	17	46,790,173 (GRCm39)	missense	probably damaging	1.00
R4193:Ttbk1	UTSW	17	46,790,173 (GRCm39)	missense	probably damaging	1.00
R4660:Ttbk1	UTSW	17	46,788,714 (GRCm39)	nonsense	probably null
R5383:Ttbk1	UTSW	17	46,778,342 (GRCm39)	missense	probably damaging	1.00
R5385:Ttbk1	UTSW	17	46,758,558 (GRCm39)	missense	probably benign	0.00
R5715:Ttbk1	UTSW	17	46,790,133 (GRCm39)	missense	probably damaging	0.99
R6218:Ttbk1	UTSW	17	46,781,733 (GRCm39)	missense	possibly damaging	0.47
R6263:Ttbk1	UTSW	17	46,778,188 (GRCm39)	missense	probably damaging	1.00
R6471:Ttbk1	UTSW	17	46,778,203 (GRCm39)	missense	probably benign
R6537:Ttbk1	UTSW	17	46,781,236 (GRCm39)	missense	probably damaging	0.98
R6552:Ttbk1	UTSW	17	46,789,888 (GRCm39)	missense	probably benign	0.14
R7564:Ttbk1	UTSW	17	46,787,857 (GRCm39)	missense	possibly damaging	0.66
R7853:Ttbk1	UTSW	17	46,758,269 (GRCm39)	missense	probably benign	0.00
R7873:Ttbk1	UTSW	17	46,757,494 (GRCm39)	missense	probably damaging	1.00
R7908:Ttbk1	UTSW	17	46,789,864 (GRCm39)	missense	probably damaging	1.00
R8210:Ttbk1	UTSW	17	46,791,087 (GRCm39)	missense	possibly damaging	0.95
R8236:Ttbk1	UTSW	17	46,781,655 (GRCm39)	missense	probably damaging	1.00
R8754:Ttbk1	UTSW	17	46,756,127 (GRCm39)	nonsense	probably null
R8829:Ttbk1	UTSW	17	46,757,821 (GRCm39)	missense	probably damaging	1.00
R8870:Ttbk1	UTSW	17	46,781,661 (GRCm39)	missense	probably damaging	1.00
R9091:Ttbk1	UTSW	17	46,781,517 (GRCm39)	missense	possibly damaging	0.48
R9135:Ttbk1	UTSW	17	46,790,132 (GRCm39)	nonsense	probably null
R9270:Ttbk1	UTSW	17	46,781,517 (GRCm39)	missense	possibly damaging	0.48
R9605:Ttbk1	UTSW	17	46,784,516 (GRCm39)	missense	possibly damaging	0.77
R9609:Ttbk1	UTSW	17	46,758,148 (GRCm39)	missense	probably damaging	0.99
R9617:Ttbk1	UTSW	17	46,757,998 (GRCm39)	missense	probably damaging	1.00
X0066:Ttbk1	UTSW	17	46,757,782 (GRCm39)	missense	possibly damaging	0.74
Z1088:Ttbk1	UTSW	17	46,757,251 (GRCm39)	missense	probably benign	0.35
Z1176:Ttbk1	UTSW	17	46,771,837 (GRCm39)	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