Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Taok2'

500443

Institutional Source

Beutler Lab

Gene Symbol

Taok2

Ensembl Gene

ENSMUSG00000059981

Gene Name

TAO kinase 2

Synonyms

1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1

MMRRC Submission

040613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3162 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126464850-126483875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126474347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 294 (I294T)

Ref Sequence

ENSEMBL: ENSMUSP00000112963 (fasta)

Gene Model

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

AlphaFold

Q6ZQ29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071268
AA Change: I294T

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: I294T

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: I294T

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: I294T

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: ENSMUST00000156273

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Meta Mutation Damage Score

0.6280

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgre4	T	C	17: 56,109,218 (GRCm39)		probably benign	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,394,422 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Epsti1	A	T	14: 78,211,953 (GRCm39)		probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Lratd2	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,700,818 (GRCm39)	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prkcz	A	T	4: 155,374,981 (GRCm39)	D114E	probably benign	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Srgap3	A	G	6: 112,706,619 (GRCm39)	V826A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Tert	A	G	13: 73,775,528 (GRCm39)	E93G	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Trak1	C	T	9: 121,280,800 (GRCm39)		probably benign	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	probably damaging	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
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
R4788: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

Posted On

2017-12-01