Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Taok1'

419711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taok1

Ensembl Gene

ENSMUSG00000017291

Gene Name

TAO kinase 1

Synonyms

D130018F14Rik, 2810468K05Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

77529162-77607815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77560328 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 309 (Y309H)

Ref Sequence

ENSEMBL: ENSMUSP00000055470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017435] [ENSMUST00000058496]

AlphaFold

Q5F2E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000017435
AA Change: Y309H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: Y309H

Domain	Start	End	E-Value	Type
S_TKc	28	281	3.26e-87	SMART
low complexity region	327	335	N/A	INTRINSIC
low complexity region	350	370	N/A	INTRINSIC
coiled coil region	458	651	N/A	INTRINSIC
coiled coil region	792	878	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058496
AA Change: Y309H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: Y309H

Domain	Start	End	E-Value	Type
S_TKc	28	281	3.26e-87	SMART
low complexity region	327	335	N/A	INTRINSIC
low complexity region	350	370	N/A	INTRINSIC
coiled coil region	458	651	N/A	INTRINSIC
coiled coil region	792	878	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Taok1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Taok1	APN	11	77571684	missense	probably damaging	1.00
IGL01629:Taok1	APN	11	77538204	missense	possibly damaging	0.63
IGL02198:Taok1	APN	11	77575677	splice site	probably benign
IGL02392:Taok1	APN	11	77549352	missense	probably benign	0.13
IGL02415:Taok1	APN	11	77540240	unclassified	probably benign
IGL02428:Taok1	APN	11	77549277	missense	probably benign	0.01
IGL02972:Taok1	APN	11	77559758	missense	probably benign	0.04
IGL03200:Taok1	APN	11	77575652	nonsense	probably null
IGL03203:Taok1	APN	11	77540085	missense	probably damaging	0.96
IGL03292:Taok1	APN	11	77540136	missense	probably benign	0.07
R7569_taok1_653	UTSW	11	77555614	missense	probably benign	0.06
R0070:Taok1	UTSW	11	77553717	missense	probably benign
R0497:Taok1	UTSW	11	77573804	missense	probably damaging	0.97
R0535:Taok1	UTSW	11	77553704	missense	probably benign	0.00
R0558:Taok1	UTSW	11	77559844	missense	possibly damaging	0.89
R0653:Taok1	UTSW	11	77578724	critical splice donor site	probably null
R1249:Taok1	UTSW	11	77571637	missense	probably damaging	1.00
R1424:Taok1	UTSW	11	77549364	missense	probably benign	0.00
R1597:Taok1	UTSW	11	77579800	missense	probably benign	0.31
R2112:Taok1	UTSW	11	77571646	missense	probably benign	0.01
R3716:Taok1	UTSW	11	77541810	missense	probably benign	0.09
R4013:Taok1	UTSW	11	77559833	missense	possibly damaging	0.95
R4058:Taok1	UTSW	11	77549438	missense	probably benign	0.05
R4831:Taok1	UTSW	11	77553674	missense	probably null	0.34
R5036:Taok1	UTSW	11	77549331	missense	probably benign	0.01
R5917:Taok1	UTSW	11	77560318	missense	probably damaging	0.99
R6271:Taok1	UTSW	11	77573783	missense	probably damaging	1.00
R6286:Taok1	UTSW	11	77553773	missense	probably benign	0.00
R6860:Taok1	UTSW	11	77541801	missense	probably benign	0.01
R6933:Taok1	UTSW	11	77555653	missense	probably benign
R7139:Taok1	UTSW	11	77571633	missense	probably damaging	1.00
R7143:Taok1	UTSW	11	77537988	missense	probably benign
R7305:Taok1	UTSW	11	77541674	nonsense	probably null
R7340:Taok1	UTSW	11	77579817	missense	possibly damaging	0.89
R7508:Taok1	UTSW	11	77545326	missense	probably damaging	0.97
R7569:Taok1	UTSW	11	77555614	missense	probably benign	0.06
R7753:Taok1	UTSW	11	77537899	missense	probably benign	0.29
R8064:Taok1	UTSW	11	77549304	nonsense	probably null
R8130:Taok1	UTSW	11	77579833	missense	possibly damaging	0.84
R8332:Taok1	UTSW	11	77541719	missense	possibly damaging	0.93
R8768:Taok1	UTSW	11	77553886	missense	probably damaging	1.00
R8775:Taok1	UTSW	11	77579806	missense	probably benign	0.42
R8775-TAIL:Taok1	UTSW	11	77579806	missense	probably benign	0.42
Z1176:Taok1	UTSW	11	77559926	missense	probably benign	0.00

Posted On

2016-08-02