Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Taok2'

367254

Institutional Source

Beutler Lab

Gene Symbol

Taok2

Ensembl Gene

ENSMUSG00000059981

Gene Name

TAO kinase 2

Synonyms

1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126464850-126483875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126467304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 167 (S167L)

Ref Sequence

ENSEMBL: ENSMUSP00000150069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037248] [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000132808] [ENSMUST00000214525]

AlphaFold

Q6ZQ29

Predicted Effect

probably benign
Transcript: ENSMUST00000037248

SMART Domains

Protein: ENSMUSP00000035535
Gene: ENSMUSG00000042606

Domain	Start	End	E-Value	Type
low complexity region	96	113	N/A	INTRINSIC
low complexity region	148	164	N/A	INTRINSIC
low complexity region	229	244	N/A	INTRINSIC
low complexity region	286	339	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
low complexity region	405	419	N/A	INTRINSIC
internal_repeat_1	420	443	6.44e-5	PROSPERO
internal_repeat_1	440	463	6.44e-5	PROSPERO
CHZ	529	565	1.17e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000071268
AA Change: S815L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: S815L

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

probably benign
Transcript: ENSMUST00000117394

SMART Domains

Protein: ENSMUSP00000112963
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
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: ENSMUST00000129746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130371

Predicted Effect

probably benign
Transcript: ENSMUST00000132808

SMART Domains

Protein: ENSMUSP00000115145
Gene: ENSMUSG00000042606

Domain	Start	End	E-Value	Type
low complexity region	36	53	N/A	INTRINSIC
low complexity region	88	104	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146120

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214525
AA Change: S167L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,960,361 (GRCm39)	D815N	probably damaging	Het
Abcc9	A	T	6: 142,566,456 (GRCm39)	C1135*	probably null	Het
Ap3b1	G	A	13: 94,702,149 (GRCm39)	M1067I	unknown	Het
Arhgap15	T	C	2: 43,638,902 (GRCm39)	M1T	probably null	Het
Boc	T	C	16: 44,320,796 (GRCm39)	D288G	probably damaging	Het
Brsk1	G	T	7: 4,701,954 (GRCm39)		probably null	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Capn13	A	T	17: 73,644,427 (GRCm39)	Y367*	probably null	Het
Ccdc191	A	G	16: 43,777,185 (GRCm39)	E632G	probably damaging	Het
Cit	T	C	5: 116,071,565 (GRCm39)	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,190,427 (GRCm39)	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,693,289 (GRCm39)	N157S	probably damaging	Het
Col6a3	A	G	1: 90,700,672 (GRCm39)		probably null	Het
Coq2	A	T	5: 100,805,775 (GRCm39)	V287E	probably damaging	Het
Cpa6	T	C	1: 10,478,502 (GRCm39)	K278R	possibly damaging	Het
Cracdl	A	T	1: 37,670,556 (GRCm39)	I128K	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,921,892 (GRCm39)	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,691,971 (GRCm39)	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,738,200 (GRCm39)	T994A	probably benign	Het
Dhx57	T	C	17: 80,582,760 (GRCm39)	T229A	probably benign	Het
Dnah6	T	A	6: 73,106,513 (GRCm39)	R1741S	probably damaging	Het
Dock1	T	A	7: 134,747,213 (GRCm39)	V1508D	probably damaging	Het
Donson	T	C	16: 91,484,721 (GRCm39)	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,822,699 (GRCm39)	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,364,495 (GRCm39)	N470S	probably damaging	Het
Focad	T	A	4: 88,275,706 (GRCm39)	V1105E	unknown	Het
Fry	T	C	5: 150,323,101 (GRCm39)	V1084A	probably benign	Het
Gabra1	G	T	11: 42,037,980 (GRCm39)	R213S	probably damaging	Het
Gbp2b	A	C	3: 142,317,171 (GRCm39)	K509T	probably benign	Het
Gprc6a	T	C	10: 51,491,104 (GRCm39)	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,198,400 (GRCm39)	D101G	probably damaging	Het
Ifna11	G	A	4: 88,738,245 (GRCm39)	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,424,672 (GRCm39)	M100L	probably benign	Het
Lgmn	T	A	12: 102,368,936 (GRCm39)	Y181F	probably benign	Het
Map4k4	T	C	1: 40,043,076 (GRCm39)	S644P	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Nav1	C	T	1: 135,397,461 (GRCm39)	A903T	probably benign	Het
Nop53	T	C	7: 15,676,240 (GRCm39)	E153G	possibly damaging	Het
Nop56	G	T	2: 130,120,820 (GRCm39)	V190L	probably benign	Het
Nyap2	A	T	1: 81,247,112 (GRCm39)	M687L	probably benign	Het
Or4a81	G	A	2: 89,619,480 (GRCm39)	S72F	probably damaging	Het
Or8g17	T	C	9: 38,930,217 (GRCm39)	T207A	probably benign	Het
Or8g26	A	G	9: 39,095,908 (GRCm39)	T145A	probably benign	Het
Osbp2	T	C	11: 3,813,320 (GRCm39)	K183R	probably benign	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pax1	A	G	2: 147,208,124 (GRCm39)	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 94,124,851 (GRCm39)	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,417 (GRCm39)	Q489L	probably damaging	Het
Poln	A	T	5: 34,286,675 (GRCm39)	S164R	probably benign	Het
Ptf1a	T	C	2: 19,450,762 (GRCm39)	S31P	probably benign	Het
Rasal3	A	T	17: 32,618,312 (GRCm39)	D164E	probably benign	Het
Rnf170	A	G	8: 26,630,891 (GRCm39)	E168G	probably damaging	Het
Rubcn	A	G	16: 32,656,778 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,389,094 (GRCm39)	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,289,175 (GRCm39)	V882A	probably benign	Het
Sfpq	A	G	4: 126,919,791 (GRCm39)	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,302,518 (GRCm39)	L187P	probably damaging	Het
Skint6	C	T	4: 113,095,533 (GRCm39)	G42D	possibly damaging	Het
Slc7a2	A	G	8: 41,367,023 (GRCm39)	I526V	probably benign	Het
Spmip7	T	C	11: 11,438,652 (GRCm39)		probably null	Het
Ssh2	A	T	11: 77,320,624 (GRCm39)	N328Y	probably damaging	Het
Tom1l2	A	G	11: 60,139,844 (GRCm39)	L275P	probably damaging	Het
Trgv5	A	G	13: 19,376,724 (GRCm39)	K57R	probably benign	Het
Tyrp1	C	T	4: 80,763,180 (GRCm39)	R356*	probably null	Het
Zan	A	G	5: 137,440,375 (GRCm39)	L1953P	unknown	Het
Zfhx3	T	C	8: 109,520,842 (GRCm39)	S655P	probably damaging	Het
Zmym1	T	C	4: 126,948,090 (GRCm39)	T94A	probably benign	Het

Other mutations in Taok2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Taok2	APN	7	126,471,583 (GRCm39)	missense	probably damaging	0.98
IGL01153:Taok2	APN	7	126,470,204 (GRCm39)	missense	probably damaging	0.99
IGL02689:Taok2	APN	7	126,475,270 (GRCm39)	missense	probably damaging	0.99
R0049:Taok2	UTSW	7	126,465,583 (GRCm39)	missense	possibly damaging	0.92
R0601:Taok2	UTSW	7	126,478,605 (GRCm39)	missense	probably damaging	1.00
R0976:Taok2	UTSW	7	126,474,323 (GRCm39)	missense	possibly damaging	0.77
R1456:Taok2	UTSW	7	126,479,313 (GRCm39)	missense	probably benign	0.09
R1643:Taok2	UTSW	7	126,475,110 (GRCm39)	unclassified	probably benign
R2084:Taok2	UTSW	7	126,469,363 (GRCm39)	missense	probably benign	0.04
R2212:Taok2	UTSW	7	126,470,030 (GRCm39)	missense	possibly damaging	0.79
R2471:Taok2	UTSW	7	126,474,272 (GRCm39)	missense	probably damaging	0.98
R3162:Taok2	UTSW	7	126,474,347 (GRCm39)	missense	possibly damaging	0.85
R3162:Taok2	UTSW	7	126,474,347 (GRCm39)	missense	possibly damaging	0.85
R3412:Taok2	UTSW	7	126,470,030 (GRCm39)	missense	possibly damaging	0.79
R4085:Taok2	UTSW	7	126,473,897 (GRCm39)	missense	possibly damaging	0.90
R4440:Taok2	UTSW	7	126,465,693 (GRCm39)	missense	possibly damaging	0.85
R4775:Taok2	UTSW	7	126,469,940 (GRCm39)	missense	probably damaging	0.99
R4787:Taok2	UTSW	7	126,467,304 (GRCm39)	missense	possibly damaging	0.85
R4791:Taok2	UTSW	7	126,467,304 (GRCm39)	missense	possibly damaging	0.85
R4927:Taok2	UTSW	7	126,475,213 (GRCm39)	missense	probably damaging	1.00
R5651:Taok2	UTSW	7	126,479,455 (GRCm39)	missense	probably damaging	1.00
R6371:Taok2	UTSW	7	126,469,319 (GRCm39)	missense	probably damaging	1.00
R6408:Taok2	UTSW	7	126,470,164 (GRCm39)	missense	probably benign
R6605:Taok2	UTSW	7	126,477,930 (GRCm39)	missense	probably damaging	1.00
R6828:Taok2	UTSW	7	126,471,047 (GRCm39)	splice site	probably null
R6863:Taok2	UTSW	7	126,471,109 (GRCm39)	missense	probably damaging	0.99
R6962:Taok2	UTSW	7	126,466,088 (GRCm39)	critical splice acceptor site	probably null
R6967:Taok2	UTSW	7	126,469,564 (GRCm39)	missense	probably damaging	0.98
R7127:Taok2	UTSW	7	126,466,326 (GRCm39)	missense	possibly damaging	0.82
R7187:Taok2	UTSW	7	126,471,552 (GRCm39)	missense	probably damaging	0.99
R7307:Taok2	UTSW	7	126,465,990 (GRCm39)	missense	probably damaging	1.00
R7325:Taok2	UTSW	7	126,470,260 (GRCm39)	missense	probably benign
R7429:Taok2	UTSW	7	126,469,849 (GRCm39)	missense	possibly damaging	0.95
R7497:Taok2	UTSW	7	126,474,050 (GRCm39)	missense	probably damaging	1.00
R8861:Taok2	UTSW	7	126,470,615 (GRCm39)	missense	probably damaging	0.99
R9402:Taok2	UTSW	7	126,469,400 (GRCm39)	missense
R9542:Taok2	UTSW	7	126,466,008 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCAGGGTGACTTTACTTTC -3'
(R):5'- GCAGATCAAGAAGCAGTTCCAG -3'

Sequencing Primer
(F):5'- AGGCAGGGTGACTTTACTTTCTTAAG -3'
(R):5'- TTCCAGGAGACGTGTAAGATCC -3'

Posted On

2015-12-29