Mutagenetix > Incidental Mutations

Incidental Mutation 'R8412:Taok3'

652733

Institutional Source

Beutler Lab

Gene Symbol

Taok3

Ensembl Gene

ENSMUSG00000061288

Gene Name

TAO kinase 3

Synonyms

A430105I05Rik, 2900006A08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117120129-117275219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117266037 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 759 (D759G)

Ref Sequence

ENSEMBL: ENSMUSP00000107609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092889] [ENSMUST00000111975] [ENSMUST00000111978] [ENSMUST00000179276]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092889
AA Change: D759G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: D759G

Domain	Start	End	E-Value	Type
S_TKc	24	277	4.4e-84	SMART
low complexity region	321	337	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
coiled coil region	452	495	N/A	INTRINSIC
low complexity region	520	532	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
coiled coil region	618	649	N/A	INTRINSIC
coiled coil region	789	869	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111975
AA Change: D299G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288
AA Change: D299G

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
low complexity region	92	106	N/A	INTRINSIC
coiled coil region	158	189	N/A	INTRINSIC
coiled coil region	329	409	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111978
AA Change: D759G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: D759G

Domain	Start	End	E-Value	Type
S_TKc	24	277	4.4e-84	SMART
low complexity region	321	337	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
coiled coil region	452	495	N/A	INTRINSIC
low complexity region	520	532	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
coiled coil region	618	649	N/A	INTRINSIC
coiled coil region	789	869	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179276
AA Change: D759G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: D759G

Domain	Start	End	E-Value	Type
S_TKc	24	277	4.4e-84	SMART
low complexity region	321	337	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
coiled coil region	452	495	N/A	INTRINSIC
low complexity region	520	532	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
coiled coil region	618	649	N/A	INTRINSIC
coiled coil region	789	869	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 184,033,159	R234S	probably damaging	Het
Ace	T	A	11: 105,979,266	F806Y	probably benign	Het
Ak8	A	G	2: 28,739,631	T286A	probably benign	Het
Apba2	T	A	7: 64,745,798	F674Y	probably damaging	Het
Apob	A	G	12: 8,008,069	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,466,028	P884L	probably benign	Het
Atg2a	T	C	19: 6,244,524	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,662,312	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,684,303	T266I	probably damaging	Het
Cdh26	A	G	2: 178,462,724	I301V	probably damaging	Het
Cenpx	A	T	11: 120,711,732	H68Q	unknown	Het
Cnot10	T	C	9: 114,610,670	R524G	probably benign	Het
Cnpy1	A	T	5: 28,209,208	Y22*	probably null	Het
Csmd3	C	T	15: 47,636,398	R2114H		Het
Defa29	T	A	8: 21,326,046	T102S	probably benign	Het
Fras1	T	C	5: 96,596,852	I582T	probably benign	Het
Gm14295	G	A	2: 176,809,629	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,443,839	V141A	possibly damaging	Het
Ifi47	A	C	11: 49,095,598	Q64P	probably damaging	Het
Irx3	G	T	8: 91,800,400	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,363,620	H289R	probably benign	Het
Lamc3	A	G	2: 31,912,116	D512G	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Med23	C	A	10: 24,908,734	F1200L	probably benign	Het
Ndst4	A	T	3: 125,570,790	D372V	possibly damaging	Het
Nob1	T	A	8: 107,421,598	K71*	probably null	Het
Ntrk3	A	G	7: 78,356,149	I488T	probably benign	Het
Pds5b	G	T	5: 150,719,959	C82F	probably damaging	Het
Pkd1l3	T	A	8: 109,633,390	V969E	possibly damaging	Het
Ppme1	A	T	7: 100,335,091	N307K	probably benign	Het
Pus7l	C	T	15: 94,527,975	C515Y	probably benign	Het
Rpp21	T	A	17: 36,257,699	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,181,218	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,712,954	K52*	probably null	Het
Slc12a3	T	C	8: 94,334,067	I261T	probably damaging	Het
Slc19a3	C	T	1: 83,014,812	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,180,856	I58V	probably benign	Het
Slc9a9	A	C	9: 95,229,039	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,384,523	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,138,457	V905A	probably damaging	Het
Tas1r1	T	C	4: 152,032,576	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,119,682	V360A	possibly damaging	Het
Trim12a	A	T	7: 104,304,337	M189K	possibly damaging	Het
Tspan32	T	C	7: 143,005,958	F41L	probably benign	Het
Tube1	T	A	10: 39,145,661	S301T	possibly damaging	Het
Usp8	T	C	2: 126,742,658	S596P	probably benign	Het
Virma	T	A	4: 11,521,261		probably null	Het
Vmn2r58	T	C	7: 41,864,298	D307G	probably benign	Het
Zeb2	T	C	2: 44,998,952	K327R	probably damaging	Het
Zfp54	C	T	17: 21,434,648	T468M	probably benign	Het
Zfp780b	A	T	7: 27,963,126	I668N	possibly damaging	Het

Other mutations in Taok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Taok3	APN	5	117272197	missense	probably benign	0.20
IGL01632:Taok3	APN	5	117265928	missense	possibly damaging	0.95
IGL02894:Taok3	APN	5	117263613	missense	probably benign	0.19
bonze	UTSW	5	117272229	nonsense	probably null
daoist	UTSW	5	117209571	missense	probably damaging	0.99
haller	UTSW	5	117206655	missense	probably damaging	1.00
Perseveration	UTSW	5	117255863	missense	probably benign	0.25
taoist	UTSW	5	117206655	missense	probably damaging	1.00
Three_treasures	UTSW	5	117217242	critical splice donor site	probably null
PIT4366001:Taok3	UTSW	5	117227985	missense	probably benign	0.21
R0046:Taok3	UTSW	5	117272229	nonsense	probably null
R0046:Taok3	UTSW	5	117272229	nonsense	probably null
R0158:Taok3	UTSW	5	117217242	critical splice donor site	probably null
R0245:Taok3	UTSW	5	117252679	splice site	probably benign
R0371:Taok3	UTSW	5	117206687	nonsense	probably null
R1140:Taok3	UTSW	5	117228053	missense	possibly damaging	0.94
R1302:Taok3	UTSW	5	117199043	missense	possibly damaging	0.46
R1376:Taok3	UTSW	5	117265961	missense	probably damaging	1.00
R1376:Taok3	UTSW	5	117265961	missense	probably damaging	1.00
R1387:Taok3	UTSW	5	117206655	missense	probably damaging	1.00
R1711:Taok3	UTSW	5	117255926	missense	possibly damaging	0.68
R1977:Taok3	UTSW	5	117265924	missense	probably damaging	0.98
R2898:Taok3	UTSW	5	117200069	critical splice acceptor site	probably null
R3824:Taok3	UTSW	5	117255937	missense	probably benign	0.01
R4378:Taok3	UTSW	5	117209571	missense	probably damaging	0.99
R4695:Taok3	UTSW	5	117228066	missense	probably benign	0.11
R4882:Taok3	UTSW	5	117252630	missense	probably damaging	0.99
R5286:Taok3	UTSW	5	117266075	missense	probably damaging	1.00
R5522:Taok3	UTSW	5	117273757	missense	probably benign	0.00
R5562:Taok3	UTSW	5	117250964	missense	probably damaging	1.00
R5643:Taok3	UTSW	5	117206720	missense	probably benign
R6241:Taok3	UTSW	5	117272197	missense	probably benign	0.33
R6290:Taok3	UTSW	5	117204368	missense	probably damaging	1.00
R6310:Taok3	UTSW	5	117255938	missense	possibly damaging	0.48
R6339:Taok3	UTSW	5	117228030	missense	probably benign
R6717:Taok3	UTSW	5	117240950	intron	probably benign
R6721:Taok3	UTSW	5	117255863	missense	probably benign	0.25
R6755:Taok3	UTSW	5	117206667	missense	probably damaging	1.00
R7046:Taok3	UTSW	5	117273706	missense	probably damaging	1.00
R7053:Taok3	UTSW	5	117252562	missense	probably benign	0.00
R7259:Taok3	UTSW	5	117252543	missense	probably benign	0.00
R7308:Taok3	UTSW	5	117200151	nonsense	probably null
R7439:Taok3	UTSW	5	117250909	missense	probably damaging	0.99
R7732:Taok3	UTSW	5	117193748	missense	possibly damaging	0.53
R7758:Taok3	UTSW	5	117250907	missense	probably damaging	1.00
R7939:Taok3	UTSW	5	117193837	missense	probably benign	0.01
R8485:Taok3	UTSW	5	117251077	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CTTGACTGTGTCGTATGACCC -3'
(R):5'- TACATCCCAGAGGTGTGTGG -3'

Sequencing Primer
(F):5'- GGCCCTCATGCATACTGACTCAG -3'
(R):5'- CCAGAGGTGTGTGGGGATG -3'

Posted On

2020-10-20