Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01598:Taok1'

91737

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 essential (E-score: 0.557) question?

Stock #

IGL01598

Quality Score

Status

Chromosome

Chromosomal Location

77529162-77607815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77571684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 193 (V193A)

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: V193A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: V193A

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: V193A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: V193A

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410124H12Rik	T	A	16: 92,478,929		noncoding transcript	Het
Apc2	T	A	10: 80,313,048	L1283Q	probably damaging	Het
Apol6	G	A	15: 77,050,716	A62T	probably damaging	Het
AU018091	A	T	7: 3,162,270	I204N	possibly damaging	Het
B4galnt4	G	T	7: 141,070,515	R765L	probably benign	Het
Brca1	T	C	11: 101,524,330	T993A	probably benign	Het
Cadps	C	T	14: 12,522,202		probably null	Het
Ccdc177	A	G	12: 80,758,745	S252P	unknown	Het
Cdc73	A	G	1: 143,699,279	S59P	probably damaging	Het
Cep63	G	T	9: 102,590,458	Q570K	possibly damaging	Het
Ces1c	A	T	8: 93,118,413	I120K	probably benign	Het
Cpeb1	T	C	7: 81,361,801	M131V	probably benign	Het
Dync1h1	G	A	12: 110,658,128	V3701I	probably damaging	Het
Fxr1	T	C	3: 34,064,232	S535P	possibly damaging	Het
Gldc	A	T	19: 30,133,756	V540D	probably damaging	Het
Iqcf6	A	G	9: 106,627,508	T124A	probably benign	Het
Itih4	A	G	14: 30,887,817	I35V	possibly damaging	Het
Kmt2c	T	C	5: 25,273,666	*1525W	probably null	Het
Kmt2c	A	T	5: 25,354,771	V963E	probably damaging	Het
Lmnb2	T	C	10: 80,907,165	S202G	probably benign	Het
Med23	T	G	10: 24,903,798	S924R	probably benign	Het
Olfr1454	T	C	19: 13,064,149	V246A	probably damaging	Het
Pcif1	T	C	2: 164,886,611	F263L	possibly damaging	Het
Pon2	A	T	6: 5,272,331	L163H	probably damaging	Het
Scn1a	C	T	2: 66,302,485	V165M	possibly damaging	Het
Sema6d	C	A	2: 124,665,098	P961Q	probably damaging	Het
Snx27	A	G	3: 94,561,843	Y64H	probably damaging	Het
Srsf11	C	T	3: 158,012,035		probably benign	Het
Vps13d	T	C	4: 145,016,901	T4137A	probably benign	Het
Zbtb26	T	C	2: 37,436,271	Y251C	probably damaging	Het
Zcchc11	A	G	4: 108,550,820		probably benign	Het

Other mutations in Taok1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03351:Taok1	APN	11	77560328	missense	probably damaging	0.96
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

2013-12-09