Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Taok3'

576813

Institutional Source

Beutler Lab

Gene Symbol

Taok3

Ensembl Gene

ENSMUSG00000061288

Gene Name

TAO kinase 3

Synonyms

A430105I05Rik, 2900006A08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117120129-117275219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117250909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 460 (Q460K)

Ref Sequence

ENSEMBL: ENSMUSP00000107609 (fasta)

Gene Model

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

AlphaFold

Q8BYC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000092889
AA Change: Q460K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: Q460K

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

SMART Domains

Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288

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 damaging
Transcript: ENSMUST00000111978
AA Change: Q460K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: Q460K

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 damaging
Transcript: ENSMUST00000145640
AA Change: Q460K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: Q460K

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 damaging
Transcript: ENSMUST00000179276
AA Change: Q460K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: Q460K

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	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
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'- AGCAACATCTGGAGGCTTGG -3'
(R):5'- ATGATGTCAGATGGGACCCC -3'

Sequencing Primer
(F):5'- TTGGAAGCCACAGTGTCC -3'
(R):5'- ATCTCAGCCTTCAGCTTG -3'

Posted On

2019-10-07