Mutagenetix > Incidental Mutation

Incidental Mutation 'R7569:Taok1'

585653

Institutional Source

Beutler Lab

Gene Symbol

Taok1

Ensembl Gene

ENSMUSG00000017291

Gene Name

TAO kinase 1

Synonyms

2810468K05Rik, D130018F14Rik

MMRRC Submission

045657-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77419988-77498641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77446440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 430 (S430T)

Ref Sequence

ENSEMBL: ENSMUSP00000017435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017435] [ENSMUST00000058496]

AlphaFold

Q5F2E8

Predicted Effect

probably benign
Transcript: ENSMUST00000017435
AA Change: S430T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: S430T

Domain	Start	End	E-Value	Type
S_TKc	28	281	3.26e-87	SMART
low complexity region	327	335	N/A	INTRINSIC
low complexity region	350	370	N/A	INTRINSIC
coiled coil region	458	651	N/A	INTRINSIC
coiled coil region	792	878	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058496
AA Change: S430T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: S430T

Domain	Start	End	E-Value	Type
S_TKc	28	281	3.26e-87	SMART
low complexity region	327	335	N/A	INTRINSIC
low complexity region	350	370	N/A	INTRINSIC
coiled coil region	458	651	N/A	INTRINSIC
coiled coil region	792	878	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC

Meta Mutation Damage Score

0.0605

Coding Region Coverage

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

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	A	T	15: 40,008,344 (GRCm39)	T73S	unknown	Het
Acvrl1	A	G	15: 101,033,636 (GRCm39)	Q106R	probably benign	Het
Adgb	A	T	10: 10,306,996 (GRCm39)	D329E	probably benign	Het
Ankrd12	A	T	17: 66,289,900 (GRCm39)	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Apol6	A	C	15: 76,934,898 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,629,506 (GRCm39)	V618M	probably damaging	Het
Asic3	A	G	5: 24,619,046 (GRCm39)	T113A	probably benign	Het
BC034090	T	A	1: 155,093,151 (GRCm39)	H769L	probably benign	Het
Bcl11a	G	T	11: 24,035,458 (GRCm39)	E65*	probably null	Het
Birc6	G	T	17: 74,905,077 (GRCm39)	R1290L	possibly damaging	Het
C6	A	G	15: 4,819,063 (GRCm39)	E465G	probably benign	Het
Cav2	T	A	6: 17,282,078 (GRCm39)	I112N	probably damaging	Het
Cep131	G	A	11: 119,957,539 (GRCm39)	A848V	probably damaging	Het
Col8a1	T	A	16: 57,447,555 (GRCm39)	I652F	unknown	Het
Cul4a	A	G	8: 13,173,493 (GRCm39)	N180S	probably benign	Het
Dhx38	A	G	8: 110,287,327 (GRCm39)	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,323,271 (GRCm39)	V1197A	possibly damaging	Het
Dynlt1f	A	G	17: 6,923,181 (GRCm39)	S7P	not run	Het
Eef1ece2	T	A	16: 20,461,237 (GRCm39)	Y641*	probably null	Het
Epha1	T	A	6: 42,342,356 (GRCm39)	T331S	possibly damaging	Het
Hus1b	A	G	13: 31,130,847 (GRCm39)	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,268,978 (GRCm39)	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,141,046 (GRCm39)	L651P	probably damaging	Het
Lgr5	T	C	10: 115,298,661 (GRCm39)	Y361C	probably damaging	Het
Map1s	T	C	8: 71,366,142 (GRCm39)	V349A	probably benign	Het
Map3k6	A	G	4: 132,977,388 (GRCm39)	R912G	probably benign	Het
Mtarc2	A	T	1: 184,573,622 (GRCm39)	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,900,433 (GRCm39)	H459Q	probably benign	Het
Nlrp1a	T	C	11: 70,999,869 (GRCm39)	M817V	probably benign	Het
Npsr1	A	G	9: 24,225,026 (GRCm39)	R345G	probably benign	Het
Nuak2	G	A	1: 132,244,019 (GRCm39)	A18T	possibly damaging	Het
Or4d6	T	C	19: 12,086,385 (GRCm39)	D175G	possibly damaging	Het
Or5ak23	A	G	2: 85,244,479 (GRCm39)	V248A	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp4r3b	T	C	11: 29,138,540 (GRCm39)	F296S	possibly damaging	Het
Pramel51	A	T	12: 88,143,085 (GRCm39)	Y373N	probably benign	Het
Pycr2	T	C	1: 180,732,083 (GRCm39)	F19L	probably benign	Het
Robo2	T	A	16: 73,832,003 (GRCm39)	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194 (GRCm39)	N132K	probably damaging	Het
Rp1	A	T	1: 4,355,063 (GRCm39)	L379Q	unknown	Het
Sema6d	A	G	2: 124,499,892 (GRCm39)	I323V	possibly damaging	Het
Slc12a4	A	G	8: 106,672,479 (GRCm39)	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,272,584 (GRCm39)	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,547,276 (GRCm39)	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,029,695 (GRCm39)	D94E	probably benign	Het
Sorcs2	A	G	5: 36,183,220 (GRCm39)	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,090,947 (GRCm39)	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,821,553 (GRCm39)	V123A	probably benign	Het
Stradb	A	G	1: 59,030,310 (GRCm39)	Y188C	unknown	Het
Styxl2	T	C	1: 165,935,604 (GRCm39)	D198G	probably damaging	Het
Sult2a2	T	C	7: 13,513,430 (GRCm39)	F186L	probably benign	Het
Syne2	A	G	12: 75,974,164 (GRCm39)	T1120A	probably benign	Het
Tmem62	A	T	2: 120,837,411 (GRCm39)	I573L	probably benign	Het
Trav9-1	T	C	14: 53,725,581 (GRCm39)	S7P	probably benign	Het
U2af1l4	A	T	7: 30,262,982 (GRCm39)	I24F	probably damaging	Het
Usp33	T	A	3: 152,097,302 (GRCm39)	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,601,544 (GRCm39)	I698S	probably damaging	Het
Zfp352	C	T	4: 90,111,896 (GRCm39)	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,493,969 (GRCm39)	E358V	probably damaging	Het

Other mutations in Taok1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Taok1	APN	11	77,462,510 (GRCm39)	missense	probably damaging	1.00
IGL01629:Taok1	APN	11	77,429,030 (GRCm39)	missense	possibly damaging	0.63
IGL02198:Taok1	APN	11	77,466,503 (GRCm39)	splice site	probably benign
IGL02392:Taok1	APN	11	77,440,178 (GRCm39)	missense	probably benign	0.13
IGL02415:Taok1	APN	11	77,431,066 (GRCm39)	unclassified	probably benign
IGL02428:Taok1	APN	11	77,440,103 (GRCm39)	missense	probably benign	0.01
IGL02972:Taok1	APN	11	77,450,584 (GRCm39)	missense	probably benign	0.04
IGL03200:Taok1	APN	11	77,466,478 (GRCm39)	nonsense	probably null
IGL03203:Taok1	APN	11	77,430,911 (GRCm39)	missense	probably damaging	0.96
IGL03292:Taok1	APN	11	77,430,962 (GRCm39)	missense	probably benign	0.07
IGL03351:Taok1	APN	11	77,451,154 (GRCm39)	missense	probably damaging	0.96
R7569_taok1_653	UTSW	11	77,446,440 (GRCm39)	missense	probably benign	0.06
R0070:Taok1	UTSW	11	77,444,543 (GRCm39)	missense	probably benign
R0497:Taok1	UTSW	11	77,464,630 (GRCm39)	missense	probably damaging	0.97
R0535:Taok1	UTSW	11	77,444,530 (GRCm39)	missense	probably benign	0.00
R0558:Taok1	UTSW	11	77,450,670 (GRCm39)	missense	possibly damaging	0.89
R0653:Taok1	UTSW	11	77,469,550 (GRCm39)	critical splice donor site	probably null
R1249:Taok1	UTSW	11	77,462,463 (GRCm39)	missense	probably damaging	1.00
R1424:Taok1	UTSW	11	77,440,190 (GRCm39)	missense	probably benign	0.00
R1597:Taok1	UTSW	11	77,470,626 (GRCm39)	missense	probably benign	0.31
R2112:Taok1	UTSW	11	77,462,472 (GRCm39)	missense	probably benign	0.01
R3716:Taok1	UTSW	11	77,432,636 (GRCm39)	missense	probably benign	0.09
R4013:Taok1	UTSW	11	77,450,659 (GRCm39)	missense	possibly damaging	0.95
R4058:Taok1	UTSW	11	77,440,264 (GRCm39)	missense	probably benign	0.05
R4831:Taok1	UTSW	11	77,444,500 (GRCm39)	missense	probably null	0.34
R5036:Taok1	UTSW	11	77,440,157 (GRCm39)	missense	probably benign	0.01
R5917:Taok1	UTSW	11	77,451,144 (GRCm39)	missense	probably damaging	0.99
R6271:Taok1	UTSW	11	77,464,609 (GRCm39)	missense	probably damaging	1.00
R6286:Taok1	UTSW	11	77,444,599 (GRCm39)	missense	probably benign	0.00
R6860:Taok1	UTSW	11	77,432,627 (GRCm39)	missense	probably benign	0.01
R6933:Taok1	UTSW	11	77,446,479 (GRCm39)	missense	probably benign
R7139:Taok1	UTSW	11	77,462,459 (GRCm39)	missense	probably damaging	1.00
R7143:Taok1	UTSW	11	77,428,814 (GRCm39)	missense	probably benign
R7305:Taok1	UTSW	11	77,432,500 (GRCm39)	nonsense	probably null
R7340:Taok1	UTSW	11	77,470,643 (GRCm39)	missense	possibly damaging	0.89
R7508:Taok1	UTSW	11	77,436,152 (GRCm39)	missense	probably damaging	0.97
R7753:Taok1	UTSW	11	77,428,725 (GRCm39)	missense	probably benign	0.29
R8064:Taok1	UTSW	11	77,440,130 (GRCm39)	nonsense	probably null
R8130:Taok1	UTSW	11	77,470,659 (GRCm39)	missense	possibly damaging	0.84
R8332:Taok1	UTSW	11	77,432,545 (GRCm39)	missense	possibly damaging	0.93
R8768:Taok1	UTSW	11	77,444,712 (GRCm39)	missense	probably damaging	1.00
R8775:Taok1	UTSW	11	77,470,632 (GRCm39)	missense	probably benign	0.42
R8775-TAIL:Taok1	UTSW	11	77,470,632 (GRCm39)	missense	probably benign	0.42
Z1176:Taok1	UTSW	11	77,450,752 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTGCTTTCTTCAAATAGGGAAT -3'
(R):5'- AGCTTCTATTTCTGCTTTGTTGAAT -3'

Sequencing Primer
(F):5'- GTATTTTCTGTATACTACCAACA -3'
(R):5'- CTATTTCTGCTTTGTTGAATTGTGG -3'

Posted On

2019-10-17