Mutagenetix > Incidental Mutation

Incidental Mutation 'R1249:Taok1'

151708

Institutional Source

Beutler Lab

Gene Symbol

Taok1

Ensembl Gene

ENSMUSG00000017291

Gene Name

TAO kinase 1

Synonyms

2810468K05Rik, D130018F14Rik

MMRRC Submission

039316-MU

Accession Numbers

Essential gene?

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

Stock #

R1249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77419988-77498641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 77462463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 209 (W209G)

Ref Sequence

ENSEMBL: ENSMUSP00000055470 (fasta)

Gene Model

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

AlphaFold

Q5F2E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000017435
AA Change: W209G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: W209G

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 damaging
Transcript: ENSMUST00000058496
AA Change: W209G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: W209G

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b2	A	C	3: 89,855,111 (GRCm39)	N586K	possibly damaging	Het
Clca3a2	T	C	3: 144,508,765 (GRCm39)	R685G	possibly damaging	Het
Cpxm2	A	G	7: 131,730,079 (GRCm39)		probably null	Het
Dsg4	A	T	18: 20,579,929 (GRCm39)	R45*	probably null	Het
Lama4	A	G	10: 38,951,474 (GRCm39)	E1073G	probably damaging	Het
Mug1	A	G	6: 121,826,420 (GRCm39)	I167V	probably benign	Het
Or4e2	G	A	14: 52,687,979 (GRCm39)	M36I	probably benign	Het
Prox1	C	T	1: 189,879,258 (GRCm39)	R640H	possibly damaging	Het
Rad50	T	A	11: 53,582,964 (GRCm39)	E476D	probably damaging	Het
Sars1	A	G	3: 108,343,251 (GRCm39)	V80A	probably benign	Het
Setd2	T	A	9: 110,402,948 (GRCm39)	M1863K	probably damaging	Het
Slc13a1	G	T	6: 24,133,649 (GRCm39)	P201Q	probably benign	Het
Vmn1r217	T	A	13: 23,298,818 (GRCm39)	H28L	probably benign	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
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
R7569:Taok1	UTSW	11	77,446,440 (GRCm39)	missense	probably benign	0.06
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'- AGAGCCTATCCAACCAGGGCAA -3'
(R):5'- GGGTCTCGTGTTTTCTGAACACTGATAA -3'

Sequencing Primer
(F):5'- atccaacacccgcttctc -3'
(R):5'- TGTTGCCTGGGATTCAAATCA -3'

Posted On

2014-01-29