Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Taok2'

711289

Institutional Source

Beutler Lab

Gene Symbol

Taok2

Ensembl Gene

ENSMUSG00000059981

Gene Name

TAO kinase 2

Synonyms

MAP3K17, TAO2, 1110033K02Rik, PSK1, TAO1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126865678-126884703 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126870228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1143 (N1143D)

Ref Sequence

ENSEMBL: ENSMUSP00000112963 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: N1143D

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

probably benign
Transcript: ENSMUST00000214525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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
5730559C18Rik	T	G	1: 136,227,610	S86R	probably benign	Het
Abca9	T	A	11: 110,158,328	Q218L	probably benign	Het
Atg2b	A	G	12: 105,648,423	F1083S	probably damaging	Het
Bche	T	C	3: 73,701,323	N257D	probably benign	Het
Cfap221	T	A	1: 119,932,821	M692L	probably benign	Het
Cfap46	G	T	7: 139,635,949	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,350,865		probably null	Het
Cyp4f39	T	C	17: 32,491,209		probably null	Het
Daam1	A	G	12: 71,959,830	T674A	probably benign	Het
Elp2	A	T	18: 24,626,163	I526L	probably benign	Het
Exoc4	T	A	6: 33,476,143	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,503	S226L	probably damaging	Het
Fry	G	A	5: 150,433,696	E1903K	possibly damaging	Het
Fry	G	A	5: 150,436,853	R1988K	probably damaging	Het
Gas1	A	T	13: 60,176,202	M206K	probably damaging	Het
Gbp10	T	A	5: 105,233,997	T96S	possibly damaging	Het
Gm14569	G	A	X: 36,430,896	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,332,218	T105A	probably benign	Het
Hoxc13	C	A	15: 102,921,616	C143*	probably null	Het
Htt	T	C	5: 34,848,980	I1411T	probably damaging	Het
Jmy	C	T	13: 93,499,170	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,780,416	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,822,210	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,331,396	T526K		Het
Lrrc29	T	A	8: 105,323,356	Y12F	probably benign	Het
Luzp1	T	A	4: 136,543,182	H905Q	probably damaging	Het
Lyst	T	A	13: 13,637,878	H958Q	probably benign	Het
Magi1	T	C	6: 94,283,297	N9S	probably benign	Het
Mmadhc	A	T	2: 50,281,107	V231E	probably benign	Het
Muc5b	T	A	7: 141,845,414	M364K	unknown	Het
Nae1	A	G	8: 104,528,185		probably null	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nlgn2	A	G	11: 69,828,107	F252S		Het
Nlrp9a	A	T	7: 26,570,605	N874I	possibly damaging	Het
Nodal	T	C	10: 61,423,600	I272T	probably damaging	Het
Olfr1234	C	A	2: 89,362,779	G217*	probably null	Het
Olfr1259	A	T	2: 89,943,940	Y58*	probably null	Het
Olfr599	T	C	7: 103,338,989	S312P	probably benign	Het
Olfr645	G	A	7: 104,084,403	R226*	probably null	Het
Orm1	C	A	4: 63,345,132	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,447,206	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,499,479	Q776*	probably null	Het
Phf14	A	G	6: 11,933,780	R214G	possibly damaging	Het
Phf3	G	A	1: 30,811,847	T1142M	probably damaging	Het
Pigz	A	G	16: 31,945,369	E415G	probably damaging	Het
Pramel5	T	C	4: 144,271,456	T406A	probably benign	Het
Prtg	A	G	9: 72,911,971	E1082G	probably benign	Het
Rtp3	A	G	9: 110,985,963	C445R	unknown	Het
Scn3b	A	T	9: 40,282,556	E193V	probably damaging	Het
Scn7a	A	T	2: 66,680,112	N1315K	probably damaging	Het
Snx14	C	T	9: 88,407,437	G254D	probably damaging	Het
Srbd1	T	C	17: 86,099,277	D560G	probably benign	Het
Srp72	T	A	5: 76,976,482	L65*	probably null	Het
Steap1	T	A	5: 5,740,664	I95F		Het
Taf3	A	G	2: 9,951,112		probably null	Het
Tas2r114	C	T	6: 131,689,931	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 138,209,822	K548E	probably damaging	Het
Tcp1	T	A	17: 12,922,618	L328Q	probably benign	Het
Tns2	A	G	15: 102,113,188	H1096R	probably damaging	Het
Trps1	A	T	15: 50,846,256	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 89,102,861	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,200,962	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Zfp748	A	G	13: 67,545,392	V54A	probably benign	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
R2212:Taok2	UTSW	7	126870858	missense	possibly damaging	0.79
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	splice site	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
R8861:Taok2	UTSW	7	126871443	missense	probably damaging	0.99
R9542:Taok2	UTSW	7	126866836	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAGGCCGTTCACCCTTAAG -3'
(R):5'- CTTTACCTCTGGCAGCTATGG -3'

Sequencing Primer
(F):5'- CGTTCACCCTTAAGCAGGC -3'
(R):5'- CCAGATGCGTCGGGGTATCTC -3'

Posted On

2022-05-16