Mutagenetix > Incidental Mutation

Incidental Mutation 'R9135:Ttbk1'

693977

Institutional Source

Beutler Lab

Gene Symbol

Ttbk1

Ensembl Gene

ENSMUSG00000015599

Gene Name

tau tubulin kinase 1

Synonyms

C330008L01Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.529) question?

Stock #

R9135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46753374-46798601 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 46790132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 104 (Y104*)

Ref Sequence

ENSEMBL: ENSMUSP00000044580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000223818] [ENSMUST00000225808]

AlphaFold

Q6PCN3

Predicted Effect

probably null
Transcript: ENSMUST00000047034
AA Change: Y104*

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: Y104*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223818

Predicted Effect

probably null
Transcript: ENSMUST00000225808
AA Change: Y104*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abi3bp	A	G	16: 56,417,173 (GRCm39)	D419G	probably benign	Het
Acoxl	A	T	2: 127,696,691 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Adgra2	T	C	8: 27,610,979 (GRCm39)	L976P	probably damaging	Het
Adora2b	A	G	11: 62,155,886 (GRCm39)		probably null	Het
Ak1	A	T	2: 32,521,182 (GRCm39)	Q117L	probably damaging	Het
Akr1c14	T	A	13: 4,128,029 (GRCm39)	D143E	probably damaging	Het
Ap4e1	A	T	2: 126,861,242 (GRCm39)	H127L	probably damaging	Het
Asxl3	T	A	18: 22,649,670 (GRCm39)	I553N	probably damaging	Het
Asxl3	T	A	18: 22,657,481 (GRCm39)	N1830K	possibly damaging	Het
Atp11a	G	A	8: 12,863,144 (GRCm39)	A108T	probably damaging	Het
Bag6	A	G	17: 35,362,437 (GRCm39)	T582A	unknown	Het
Bbs9	T	C	9: 22,490,005 (GRCm39)	S259P	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp3a	T	A	17: 28,104,902 (GRCm39)	L532*	probably null	Het
Blvrb	T	C	7: 27,165,210 (GRCm39)	S177P	probably damaging	Het
C1s2	T	A	6: 124,602,642 (GRCm39)	D523V	probably benign	Het
Cacna2d1	C	T	5: 16,558,850 (GRCm39)	T736I	probably damaging	Het
Card9	T	C	2: 26,242,397 (GRCm39)	N513S	probably benign	Het
Casp2	A	G	6: 42,245,882 (GRCm39)	T180A	probably benign	Het
Cenpf	A	T	1: 189,404,746 (GRCm39)	L361Q	probably damaging	Het
Cnbd2	T	C	2: 156,217,488 (GRCm39)	I659T	probably damaging	Het
Cped1	A	T	6: 21,987,012 (GRCm39)	D68V	probably damaging	Het
Cxcr1	T	C	1: 74,231,099 (GRCm39)	I308V	probably benign	Het
Dad1	A	G	14: 54,491,163 (GRCm39)	L46P	probably damaging	Het
Defb23	G	A	2: 152,301,422 (GRCm39)	A50V	probably benign	Het
Dhx33	C	T	11: 70,877,992 (GRCm39)	A684T	probably damaging	Het
Dnai3	T	C	3: 145,772,589 (GRCm39)	T486A	probably benign	Het
Epb41l4a	T	A	18: 33,965,729 (GRCm39)	N366I	probably benign	Het
Erich3	A	G	3: 154,467,912 (GRCm39)	E788G		Het
Fam241b	T	C	10: 61,944,892 (GRCm39)	N35S	probably benign	Het
Fbxo24	T	A	5: 137,622,526 (GRCm39)	Q80L	probably benign	Het
Foxk1	T	G	5: 142,434,497 (GRCm39)	F254V	probably benign	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm12886	T	C	4: 121,274,743 (GRCm39)	I46V	probably benign	Het
Gm20834	G	T	Y: 10,323,354 (GRCm39)	H27Q	probably damaging	Het
Gm2888	A	G	14: 3,032,106 (GRCm38)	N138S	probably damaging	Het
Gm5773	T	C	3: 93,681,179 (GRCm39)	C284R	possibly damaging	Het
Gprin3	A	T	6: 59,330,273 (GRCm39)	M678K	probably benign	Het
Grm7	T	C	6: 111,472,729 (GRCm39)	V856A	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Immt	C	T	6: 71,851,403 (GRCm39)	T588I	probably damaging	Het
Ints1	G	C	5: 139,737,701 (GRCm39)	N2145K	possibly damaging	Het
Jade2	T	C	11: 51,715,951 (GRCm39)	D418G	probably benign	Het
Kdf1	T	C	4: 133,256,140 (GRCm39)	Y286H	probably damaging	Het
Kif18a	A	G	2: 109,171,506 (GRCm39)	Y861C	possibly damaging	Het
Lama2	T	A	10: 27,298,515 (GRCm39)	I194F	probably damaging	Het
Lhx8	A	G	3: 154,034,063 (GRCm39)	S33P	probably benign	Het
Lmo7	T	C	14: 102,118,297 (GRCm39)	I174T	probably damaging	Het
Lrfn2	A	T	17: 49,376,976 (GRCm39)	D19V	possibly damaging	Het
Lrrk1	A	T	7: 65,928,357 (GRCm39)	I1257N	probably damaging	Het
Malrd1	T	A	2: 15,802,516 (GRCm39)	H1076Q	unknown	Het
Map3k14	A	C	11: 103,128,364 (GRCm39)	M419R	probably damaging	Het
Mcm10	G	A	2: 5,011,372 (GRCm39)	R200C	probably benign	Het
Mertk	A	G	2: 128,604,035 (GRCm39)	N390D	probably benign	Het
Mitf	T	A	6: 97,990,680 (GRCm39)	I361N	probably damaging	Het
Mrgprb1	T	A	7: 48,097,046 (GRCm39)	I289F	possibly damaging	Het
Muc5ac	A	T	7: 141,352,218 (GRCm39)	D659V	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nphp3	T	G	9: 103,909,214 (GRCm39)	L808R	probably damaging	Het
Or14c42-ps1	G	A	7: 86,211,156 (GRCm39)	C72Y	unknown	Het
Or1e1	T	C	11: 73,245,316 (GRCm39)	S246P	probably damaging	Het
Or5an1	T	A	19: 12,260,808 (GRCm39)	L132Q	probably damaging	Het
Or5b113	T	A	19: 13,342,755 (GRCm39)	S254R	possibly damaging	Het
Pagr1a	T	C	7: 126,615,954 (GRCm39)	E47G	probably benign	Het
Papss2	G	T	19: 32,618,764 (GRCm39)	R274L	probably damaging	Het
Pcdhga10	C	A	18: 37,880,960 (GRCm39)	F240L	probably damaging	Het
Pcsk5	T	G	19: 17,563,472 (GRCm39)	E555A		Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pgrmc2	T	A	3: 41,023,099 (GRCm39)	D206V	probably damaging	Het
Pkd1	T	C	17: 24,790,976 (GRCm39)	V1057A		Het
Plekha5	T	C	6: 140,480,239 (GRCm39)	I113T	probably damaging	Het
Prorp	T	A	12: 55,426,189 (GRCm39)	L513Q	probably damaging	Het
Prss32	C	T	17: 24,078,199 (GRCm39)	T295I	possibly damaging	Het
Ptprk	G	T	10: 28,456,413 (GRCm39)	V1072F	probably damaging	Het
Rasd2	T	A	8: 75,945,174 (GRCm39)	M1K	probably null	Het
Rhag	T	A	17: 41,139,302 (GRCm39)	M79K	probably damaging	Het
Rnf19a	C	A	15: 36,253,310 (GRCm39)		probably null	Het
Rnf213	G	T	11: 119,299,573 (GRCm39)	G101C		Het
Sap130	T	A	18: 31,780,116 (GRCm39)	D45E	probably benign	Het
Scel	T	A	14: 103,839,626 (GRCm39)	F510I	probably benign	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Shoc2	T	A	19: 53,976,310 (GRCm39)	S67T	probably benign	Het
Slc22a3	T	C	17: 12,645,619 (GRCm39)	I441V	possibly damaging	Het
Slfn5	A	G	11: 82,851,503 (GRCm39)	D600G	probably benign	Het
Smim7	G	A	8: 73,324,757 (GRCm39)	T10M	probably damaging	Het
Sntb2	A	T	8: 107,662,831 (GRCm39)	Q133L	possibly damaging	Het
Steap3	A	C	1: 120,162,048 (GRCm39)	M408R	probably benign	Het
Supt4a	T	C	11: 87,633,624 (GRCm39)	I60T	probably benign	Het
Swt1	A	C	1: 151,244,239 (GRCm39)	C899G	possibly damaging	Het
Taok3	A	G	5: 117,344,744 (GRCm39)	E157G	probably damaging	Het
Taok3	C	T	5: 117,379,245 (GRCm39)	L427F	possibly damaging	Het
Taok3	T	C	5: 117,379,168 (GRCm39)	V401A	probably benign	Het
Tcf25	A	G	8: 124,108,182 (GRCm39)	E79G	probably benign	Het
Tigit	G	A	16: 43,479,876 (GRCm39)	L140F	possibly damaging	Het
Tmem143	G	T	7: 45,546,802 (GRCm39)		probably benign	Het
Tmem151b	C	T	17: 45,856,355 (GRCm39)	V362M	possibly damaging	Het
Tmem230	A	G	2: 132,085,989 (GRCm39)	F58L	probably benign	Het
Trim25	T	C	11: 88,899,988 (GRCm39)	M245T	probably benign	Het
Trim36	A	C	18: 46,302,410 (GRCm39)	V546G	probably benign	Het
Triml1	T	C	8: 43,583,624 (GRCm39)	N326D	probably damaging	Het
Trp53bp2	T	C	1: 182,286,328 (GRCm39)	V1056A	probably damaging	Het
Trpa1	C	A	1: 14,952,435 (GRCm39)	M865I	probably damaging	Het
Tubg1	T	A	11: 101,014,257 (GRCm39)	H139Q	probably damaging	Het
Ufsp2	A	G	8: 46,447,050 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,652,431 (GRCm39)	N36I	probably benign	Het
Vmn1r32	G	A	6: 66,530,120 (GRCm39)	R219*	probably null	Het
Vmn2r59	G	A	7: 41,693,125 (GRCm39)	P492S	probably benign	Het
Vmn2r59	G	C	7: 41,693,127 (GRCm39)	A491G		Het
Wdr76	T	C	2: 121,364,592 (GRCm39)	Y299H	probably damaging	Het
Wnt5a	C	T	14: 28,240,309 (GRCm39)	A153V	probably benign	Het
Zfp202	T	C	9: 40,120,237 (GRCm39)	V226A	possibly damaging	Het
Zfp219	C	T	14: 52,244,598 (GRCm39)	R527H	probably damaging	Het
Zfp408	A	T	2: 91,475,528 (GRCm39)	L542H	probably damaging	Het
Zfyve9	A	T	4: 108,539,386 (GRCm39)	C271*	probably null	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
R7871:Ttbk1	UTSW	17	46,757,164 (GRCm39)	missense	probably benign
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
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'- GGAAGACCCATCTCAGCCA -3'
(R):5'- GAGCTGGGTGTAGTATACATACAC -3'

Sequencing Primer
(F):5'- GAAGACCCATCTCAGCCACATTC -3'
(R):5'- TACAGAGATACAGTCACAGAGAGCTC -3'

Posted On

2022-01-20