Incidental Mutation 'IGL00918:Taok2'
ID 27797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taok2
Ensembl Gene ENSMUSG00000059981
Gene Name TAO kinase 2
Synonyms 1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00918
Quality Score
Status
Chromosome 7
Chromosomal Location 126464850-126483875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126471583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 532 (Q532L)
Ref Sequence ENSEMBL: ENSMUSP00000112963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000214525]
AlphaFold Q6ZQ29
Predicted Effect probably damaging
Transcript: ENSMUST00000071268
AA Change: Q532L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: Q532L

DomainStartEndE-ValueType
S_TKc 28 281 6.42e-86 SMART
low complexity region 319 333 N/A INTRINSIC
coiled coil region 373 401 N/A INTRINSIC
low complexity region 449 465 N/A INTRINSIC
coiled coil region 493 526 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
coiled coil region 579 608 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
coiled coil region 821 859 N/A INTRINSIC
low complexity region 863 892 N/A INTRINSIC
low complexity region 931 954 N/A INTRINSIC
low complexity region 963 972 N/A INTRINSIC
low complexity region 977 992 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117394
AA Change: Q532L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: Q532L

DomainStartEndE-ValueType
S_TKc 28 281 6.42e-86 SMART
low complexity region 319 333 N/A INTRINSIC
coiled coil region 373 401 N/A INTRINSIC
low complexity region 449 465 N/A INTRINSIC
coiled coil region 493 526 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
coiled coil region 579 608 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
transmembrane domain 962 984 N/A INTRINSIC
transmembrane domain 991 1013 N/A INTRINSIC
transmembrane domain 1017 1039 N/A INTRINSIC
transmembrane domain 1052 1074 N/A INTRINSIC
low complexity region 1085 1100 N/A INTRINSIC
low complexity region 1197 1215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214525
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. Mice homozygous for a targeted allele exhibit resistance to the ataxic effect of alcohol, reduced blood ethanol content, increased alcohol consumption, impaired CPP for alcohol, and impaired habituation in an open field. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 G A 7: 144,198,489 (GRCm39) probably benign Het
C6 T C 15: 4,764,739 (GRCm39) L145P possibly damaging Het
Cfap43 A T 19: 47,885,100 (GRCm39) L505H probably damaging Het
Irag2 A G 6: 145,113,720 (GRCm39) E296G probably damaging Het
Plekhg6 T A 6: 125,349,514 (GRCm39) E361V probably null Het
Pnp T A 14: 51,188,459 (GRCm39) M233K probably benign Het
Ptpre T C 7: 135,260,782 (GRCm39) S140P probably damaging Het
Rgs3 C T 4: 62,619,304 (GRCm39) T463I probably damaging Het
Rragc T C 4: 123,813,636 (GRCm39) probably benign Het
Taar6 C A 10: 23,861,480 (GRCm39) C22F probably damaging Het
Tas2r130 T C 6: 131,607,234 (GRCm39) N187S probably damaging Het
Other mutations in Taok2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Taok2 APN 7 126,470,204 (GRCm39) missense probably damaging 0.99
IGL02689:Taok2 APN 7 126,475,270 (GRCm39) missense probably damaging 0.99
R0049:Taok2 UTSW 7 126,465,583 (GRCm39) missense possibly damaging 0.92
R0601:Taok2 UTSW 7 126,478,605 (GRCm39) missense probably damaging 1.00
R0976:Taok2 UTSW 7 126,474,323 (GRCm39) missense possibly damaging 0.77
R1456:Taok2 UTSW 7 126,479,313 (GRCm39) missense probably benign 0.09
R1643:Taok2 UTSW 7 126,475,110 (GRCm39) unclassified probably benign
R2084:Taok2 UTSW 7 126,469,363 (GRCm39) missense probably benign 0.04
R2212:Taok2 UTSW 7 126,470,030 (GRCm39) missense possibly damaging 0.79
R2471:Taok2 UTSW 7 126,474,272 (GRCm39) missense probably damaging 0.98
R3162:Taok2 UTSW 7 126,474,347 (GRCm39) missense possibly damaging 0.85
R3162:Taok2 UTSW 7 126,474,347 (GRCm39) missense possibly damaging 0.85
R3412:Taok2 UTSW 7 126,470,030 (GRCm39) missense possibly damaging 0.79
R4085:Taok2 UTSW 7 126,473,897 (GRCm39) missense possibly damaging 0.90
R4440:Taok2 UTSW 7 126,465,693 (GRCm39) missense possibly damaging 0.85
R4775:Taok2 UTSW 7 126,469,940 (GRCm39) missense probably damaging 0.99
R4787:Taok2 UTSW 7 126,467,304 (GRCm39) missense possibly damaging 0.85
R4788:Taok2 UTSW 7 126,467,304 (GRCm39) missense possibly damaging 0.85
R4791:Taok2 UTSW 7 126,467,304 (GRCm39) missense possibly damaging 0.85
R4927:Taok2 UTSW 7 126,475,213 (GRCm39) missense probably damaging 1.00
R5651:Taok2 UTSW 7 126,479,455 (GRCm39) missense probably damaging 1.00
R6371:Taok2 UTSW 7 126,469,319 (GRCm39) missense probably damaging 1.00
R6408:Taok2 UTSW 7 126,470,164 (GRCm39) missense probably benign
R6605:Taok2 UTSW 7 126,477,930 (GRCm39) missense probably damaging 1.00
R6828:Taok2 UTSW 7 126,471,047 (GRCm39) splice site probably null
R6863:Taok2 UTSW 7 126,471,109 (GRCm39) missense probably damaging 0.99
R6962:Taok2 UTSW 7 126,466,088 (GRCm39) critical splice acceptor site probably null
R6967:Taok2 UTSW 7 126,469,564 (GRCm39) missense probably damaging 0.98
R7127:Taok2 UTSW 7 126,466,326 (GRCm39) missense possibly damaging 0.82
R7187:Taok2 UTSW 7 126,471,552 (GRCm39) missense probably damaging 0.99
R7307:Taok2 UTSW 7 126,465,990 (GRCm39) missense probably damaging 1.00
R7325:Taok2 UTSW 7 126,470,260 (GRCm39) missense probably benign
R7429:Taok2 UTSW 7 126,469,849 (GRCm39) missense possibly damaging 0.95
R7497:Taok2 UTSW 7 126,474,050 (GRCm39) missense probably damaging 1.00
R8861:Taok2 UTSW 7 126,470,615 (GRCm39) missense probably damaging 0.99
R9402:Taok2 UTSW 7 126,469,400 (GRCm39) missense
R9542:Taok2 UTSW 7 126,466,008 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17