Incidental Mutation 'IGL03351:Taok1'
ID 419711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taok1
Ensembl Gene ENSMUSG00000017291
Gene Name TAO kinase 1
Synonyms D130018F14Rik, 2810468K05Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.557) question?
Stock # IGL03351
Quality Score
Status
Chromosome 11
Chromosomal Location 77529162-77607815 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77560328 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 309 (Y309H)
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: Y309H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: Y309H

DomainStartEndE-ValueType
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: Y309H

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: Y309H

DomainStartEndE-ValueType
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging Het
Other mutations in Taok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Taok1 APN 11 77571684 missense probably damaging 1.00
IGL01629:Taok1 APN 11 77538204 missense possibly damaging 0.63
IGL02198:Taok1 APN 11 77575677 splice site probably benign
IGL02392:Taok1 APN 11 77549352 missense probably benign 0.13
IGL02415:Taok1 APN 11 77540240 unclassified probably benign
IGL02428:Taok1 APN 11 77549277 missense probably benign 0.01
IGL02972:Taok1 APN 11 77559758 missense probably benign 0.04
IGL03200:Taok1 APN 11 77575652 nonsense probably null
IGL03203:Taok1 APN 11 77540085 missense probably damaging 0.96
IGL03292:Taok1 APN 11 77540136 missense probably benign 0.07
R7569_taok1_653 UTSW 11 77555614 missense probably benign 0.06
R0070:Taok1 UTSW 11 77553717 missense probably benign
R0497:Taok1 UTSW 11 77573804 missense probably damaging 0.97
R0535:Taok1 UTSW 11 77553704 missense probably benign 0.00
R0558:Taok1 UTSW 11 77559844 missense possibly damaging 0.89
R0653:Taok1 UTSW 11 77578724 critical splice donor site probably null
R1249:Taok1 UTSW 11 77571637 missense probably damaging 1.00
R1424:Taok1 UTSW 11 77549364 missense probably benign 0.00
R1597:Taok1 UTSW 11 77579800 missense probably benign 0.31
R2112:Taok1 UTSW 11 77571646 missense probably benign 0.01
R3716:Taok1 UTSW 11 77541810 missense probably benign 0.09
R4013:Taok1 UTSW 11 77559833 missense possibly damaging 0.95
R4058:Taok1 UTSW 11 77549438 missense probably benign 0.05
R4831:Taok1 UTSW 11 77553674 missense probably null 0.34
R5036:Taok1 UTSW 11 77549331 missense probably benign 0.01
R5917:Taok1 UTSW 11 77560318 missense probably damaging 0.99
R6271:Taok1 UTSW 11 77573783 missense probably damaging 1.00
R6286:Taok1 UTSW 11 77553773 missense probably benign 0.00
R6860:Taok1 UTSW 11 77541801 missense probably benign 0.01
R6933:Taok1 UTSW 11 77555653 missense probably benign
R7139:Taok1 UTSW 11 77571633 missense probably damaging 1.00
R7143:Taok1 UTSW 11 77537988 missense probably benign
R7305:Taok1 UTSW 11 77541674 nonsense probably null
R7340:Taok1 UTSW 11 77579817 missense possibly damaging 0.89
R7508:Taok1 UTSW 11 77545326 missense probably damaging 0.97
R7569:Taok1 UTSW 11 77555614 missense probably benign 0.06
R7753:Taok1 UTSW 11 77537899 missense probably benign 0.29
R8064:Taok1 UTSW 11 77549304 nonsense probably null
R8130:Taok1 UTSW 11 77579833 missense possibly damaging 0.84
R8332:Taok1 UTSW 11 77541719 missense possibly damaging 0.93
R8768:Taok1 UTSW 11 77553886 missense probably damaging 1.00
R8775:Taok1 UTSW 11 77579806 missense probably benign 0.42
R8775-TAIL:Taok1 UTSW 11 77579806 missense probably benign 0.42
Z1176:Taok1 UTSW 11 77559926 missense probably benign 0.00
Posted On 2016-08-02