Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Taok3'

275270

Institutional Source

Beutler Lab

Gene Symbol

Taok3

Ensembl Gene

ENSMUSG00000061288

Gene Name

TAO kinase 3

Synonyms

A430105I05Rik, 2900006A08Rik

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117120129-117275219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117255937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 592 (T592A)

Ref Sequence

ENSEMBL: ENSMUSP00000136750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092889] [ENSMUST00000111975] [ENSMUST00000111978] [ENSMUST00000145640] [ENSMUST00000179276]

AlphaFold

Q8BYC6

Predicted Effect

probably benign
Transcript: ENSMUST00000092889
AA Change: T592A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: T592A

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

probably benign
Transcript: ENSMUST00000111975
AA Change: T132A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288
AA Change: T132A

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

probably benign
Transcript: ENSMUST00000111978
AA Change: T592A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: T592A

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

probably benign
Transcript: ENSMUST00000145640

SMART Domains

Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288

Domain	Start	End	E-Value	Type
S_TKc	24	277	2.2e-86	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

Predicted Effect

probably benign
Transcript: ENSMUST00000179276
AA Change: T592A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: T592A

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

Meta Mutation Damage Score

0.0575

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	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
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
R8412:Taok3	UTSW	5	117266037	missense	possibly damaging	0.59
R8485:Taok3	UTSW	5	117251077	missense	possibly damaging	0.54
R8989:Taok3	UTSW	5	117241162	missense	probably benign
R9135:Taok3	UTSW	5	117206679	missense	probably damaging	1.00
R9135:Taok3	UTSW	5	117241103	missense	probably benign
R9135:Taok3	UTSW	5	117241180	missense	possibly damaging	0.70
R9182:Taok3	UTSW	5	117217242	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTGCATTCACGGGTGAC -3'
(R):5'- ATGGCTCTCTTACCGGACAG -3'

Sequencing Primer
(F):5'- ATGAACGAGGACCATAGC -3'
(R):5'- CACTGTGCTAATGGCTAAGGACAC -3'

Posted On

2015-04-02