Incidental Mutation 'IGL01153:Taok2'
ID 51689
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 # IGL01153
Quality Score
Status
Chromosome 7
Chromosomal Location 126464850-126483875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126470204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 875 (W875R)
Ref Sequence ENSEMBL: ENSMUSP00000112963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000214525]
AlphaFold Q6ZQ29
Predicted Effect probably benign
Transcript: ENSMUST00000071268
SMART Domains Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

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: W875R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: W875R

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 noncoding transcript
Transcript: ENSMUST00000130371
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,567,247 (GRCm39) I5309V probably benign Het
Amy1 A G 3: 113,349,724 (GRCm39) V482A possibly damaging Het
Ankrd22 A T 19: 34,106,229 (GRCm39) V81E probably damaging Het
Ccr5 C A 9: 123,924,649 (GRCm39) T84K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chchd3 A T 6: 32,985,502 (GRCm39) probably benign Het
Cpt1c C T 7: 44,616,092 (GRCm39) E307K probably damaging Het
Cyth2 T C 7: 45,457,813 (GRCm39) Y120C probably damaging Het
Dnajb11 T A 16: 22,681,430 (GRCm39) D69E probably benign Het
Ece2 T A 16: 20,451,544 (GRCm39) M215K possibly damaging Het
Enox2 C A X: 48,151,015 (GRCm39) probably null Het
Fam120c T C X: 150,182,801 (GRCm39) probably null Het
Fam149b A G 14: 20,427,949 (GRCm39) T319A possibly damaging Het
Fndc1 A T 17: 7,998,874 (GRCm39) probably null Het
Gcsh T A 8: 117,710,549 (GRCm39) D138V probably benign Het
Herc3 T A 6: 58,837,321 (GRCm39) H331Q probably benign Het
Iars1 A G 13: 49,865,281 (GRCm39) N586D probably damaging Het
Idh3g A G X: 72,823,668 (GRCm39) V280A probably damaging Het
Kctd18 A G 1: 58,004,550 (GRCm39) S115P probably damaging Het
Lims2 A G 18: 32,090,370 (GRCm39) probably null Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Mael T C 1: 166,029,919 (GRCm39) K334E possibly damaging Het
Me3 A C 7: 89,498,844 (GRCm39) T475P probably damaging Het
Mrpl18 A G 17: 13,134,693 (GRCm39) L24P possibly damaging Het
Nol4 C A 18: 22,902,850 (GRCm39) R460L probably damaging Het
Numa1 A T 7: 101,643,951 (GRCm39) E181V probably damaging Het
Or6c2 T A 10: 129,362,864 (GRCm39) I256N probably damaging Het
Pex2 A T 3: 5,626,424 (GRCm39) H128Q probably benign Het
Pex3 A T 10: 13,428,597 (GRCm39) probably null Het
Psmb8 A G 17: 34,420,215 (GRCm39) Y269C possibly damaging Het
Sh2d3c A G 2: 32,615,096 (GRCm39) K62R probably benign Het
Strn4 G A 7: 16,571,846 (GRCm39) G613D probably damaging Het
Tbc1d4 T C 14: 101,845,451 (GRCm39) D149G possibly damaging Het
Zfp473 A G 7: 44,383,992 (GRCm39) S113P probably damaging Het
Zfp768 A G 7: 126,943,703 (GRCm39) Y145H possibly damaging Het
Zgrf1 G A 3: 127,396,055 (GRCm39) G534R probably damaging Het
Other mutations in Taok2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Taok2 APN 7 126,471,583 (GRCm39) missense probably damaging 0.98
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 2013-06-21