Incidental Mutation 'IGL01598:Taok1'
ID 91737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taok1
Ensembl Gene ENSMUSG00000017291
Gene Name TAO kinase 1
Synonyms 2810468K05Rik, D130018F14Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.455) question?
Stock # IGL01598
Quality Score
Status
Chromosome 11
Chromosomal Location 77419988-77498641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77462510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
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: V193A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: V193A

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: V193A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: V193A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,275,817 (GRCm39) noncoding transcript Het
Apc2 T A 10: 80,148,882 (GRCm39) L1283Q probably damaging Het
Apol6 G A 15: 76,934,916 (GRCm39) A62T probably damaging Het
AU018091 A T 7: 3,212,110 (GRCm39) I204N possibly damaging Het
B4galnt4 G T 7: 140,650,428 (GRCm39) R765L probably benign Het
Brca1 T C 11: 101,415,156 (GRCm39) T993A probably benign Het
Cadps C T 14: 12,522,202 (GRCm38) probably null Het
Ccdc177 A G 12: 80,805,519 (GRCm39) S252P unknown Het
Cdc73 A G 1: 143,575,017 (GRCm39) S59P probably damaging Het
Cep63 G T 9: 102,467,657 (GRCm39) Q570K possibly damaging Het
Ces1c A T 8: 93,845,041 (GRCm39) I120K probably benign Het
Cpeb1 T C 7: 81,011,549 (GRCm39) M131V probably benign Het
Dync1h1 G A 12: 110,624,562 (GRCm39) V3701I probably damaging Het
Fxr1 T C 3: 34,118,381 (GRCm39) S535P possibly damaging Het
Gldc A T 19: 30,111,156 (GRCm39) V540D probably damaging Het
Iqcf6 A G 9: 106,504,707 (GRCm39) T124A probably benign Het
Itih4 A G 14: 30,609,774 (GRCm39) I35V possibly damaging Het
Kmt2c T C 5: 25,478,664 (GRCm39) *1525W probably null Het
Kmt2c A T 5: 25,559,769 (GRCm39) V963E probably damaging Het
Lmnb2 T C 10: 80,742,999 (GRCm39) S202G probably benign Het
Med23 T G 10: 24,779,696 (GRCm39) S924R probably benign Het
Or5b102 T C 19: 13,041,513 (GRCm39) V246A probably damaging Het
Pcif1 T C 2: 164,728,531 (GRCm39) F263L possibly damaging Het
Pon2 A T 6: 5,272,331 (GRCm39) L163H probably damaging Het
Scn1a C T 2: 66,132,829 (GRCm39) V165M possibly damaging Het
Sema6d C A 2: 124,507,018 (GRCm39) P961Q probably damaging Het
Snx27 A G 3: 94,469,150 (GRCm39) Y64H probably damaging Het
Srsf11 C T 3: 157,717,672 (GRCm39) probably benign Het
Tut4 A G 4: 108,408,017 (GRCm39) probably benign Het
Vps13d T C 4: 144,743,471 (GRCm39) T4137A probably benign Het
Zbtb26 T C 2: 37,326,283 (GRCm39) Y251C probably damaging Het
Other mutations in Taok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09