Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Taok2'

239451

Institutional Source

Beutler Lab

Gene Symbol

Taok2

Ensembl Gene

ENSMUSG00000059981

Gene Name

TAO kinase 2

Synonyms

MAP3K17, TAO2, 1110033K02Rik, PSK1, TAO1

MMRRC Submission

040214-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126865678-126884703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126870858 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 933 (I933V)

Ref Sequence

ENSEMBL: ENSMUSP00000112963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000214525]

Predicted Effect

probably benign
Transcript: ENSMUST00000071268

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
coiled coil region	821	859	N/A	INTRINSIC
low complexity region	863	892	N/A	INTRINSIC
low complexity region	931	954	N/A	INTRINSIC
low complexity region	963	972	N/A	INTRINSIC
low complexity region	977	992	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117394
AA Change: I933V

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: I933V

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
low complexity region	929	939	N/A	INTRINSIC
transmembrane domain	962	984	N/A	INTRINSIC
transmembrane domain	991	1013	N/A	INTRINSIC
transmembrane domain	1017	1039	N/A	INTRINSIC
transmembrane domain	1052	1074	N/A	INTRINSIC
low complexity region	1085	1100	N/A	INTRINSIC
low complexity region	1197	1215	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130371

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. Mice homozygous for a targeted allele exhibit resistance to the ataxic effect of alcohol, reduced blood ethanol content, increased alcohol consumption, impaired CPP for alcohol, and impaired habituation in an open field. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Taok2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Taok2	APN	7	126872411	missense	probably damaging	0.98
IGL01153:Taok2	APN	7	126871032	missense	probably damaging	0.99
IGL02689:Taok2	APN	7	126876098	missense	probably damaging	0.99
R0049:Taok2	UTSW	7	126866411	missense	possibly damaging	0.92
R0601:Taok2	UTSW	7	126879433	missense	probably damaging	1.00
R0976:Taok2	UTSW	7	126875151	missense	possibly damaging	0.77
R1456:Taok2	UTSW	7	126880141	missense	probably benign	0.09
R1643:Taok2	UTSW	7	126875938	unclassified	probably benign
R2084:Taok2	UTSW	7	126870191	missense	probably benign	0.04
R2471:Taok2	UTSW	7	126875100	missense	probably damaging	0.98
R3162:Taok2	UTSW	7	126875175	missense	possibly damaging	0.85
R3162:Taok2	UTSW	7	126875175	missense	possibly damaging	0.85
R3412:Taok2	UTSW	7	126870858	missense	possibly damaging	0.79
R4085:Taok2	UTSW	7	126874725	missense	possibly damaging	0.90
R4440:Taok2	UTSW	7	126866521	missense	possibly damaging	0.85
R4775:Taok2	UTSW	7	126870768	missense	probably damaging	0.99
R4787:Taok2	UTSW	7	126868132	missense	possibly damaging	0.85
R4788:Taok2	UTSW	7	126868132	missense	possibly damaging	0.85
R4791:Taok2	UTSW	7	126868132	missense	possibly damaging	0.85
R4927:Taok2	UTSW	7	126876041	missense	probably damaging	1.00
R5651:Taok2	UTSW	7	126880283	missense	probably damaging	1.00
R6371:Taok2	UTSW	7	126870147	missense	probably damaging	1.00
R6408:Taok2	UTSW	7	126870992	missense	probably benign
R6605:Taok2	UTSW	7	126878758	missense	probably damaging	1.00
R6828:Taok2	UTSW	7	126871875	intron	probably null
R6863:Taok2	UTSW	7	126871937	missense	probably damaging	0.99
R6962:Taok2	UTSW	7	126866916	critical splice acceptor site	probably null
R6967:Taok2	UTSW	7	126870392	missense	probably damaging	0.98
R7127:Taok2	UTSW	7	126867154	missense	possibly damaging	0.82
R7187:Taok2	UTSW	7	126872380	missense	probably damaging	0.99
R7307:Taok2	UTSW	7	126866818	missense	probably damaging	1.00
R7325:Taok2	UTSW	7	126871088	missense	probably benign
R7429:Taok2	UTSW	7	126870677	missense	possibly damaging	0.95
R7497:Taok2	UTSW	7	126874878	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGTGCAGTACCCTGAGC -3'
(R):5'- ATTAGAGTCCCATCACTGGCATC -3'

Sequencing Primer
(F):5'- TACCTCAAGGGCCAGCAGTG -3'
(R):5'- TCCCAGGAGAGAAATATTATTGGCC -3'

Posted On

2014-10-15