Incidental Mutation 'IGL00850:Stk35'
ID 14275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk35
Ensembl Gene ENSMUSG00000037885
Gene Name serine/threonine kinase 35
Synonyms 1700054C12Rik, CLIK1, CLP-36 interacting kinase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00850
Quality Score
Status
Chromosome 2
Chromosomal Location 129800517-129832287 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129801992 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 299 (T299A)
Ref Sequence ENSEMBL: ENSMUSP00000132862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165413] [ENSMUST00000166282]
AlphaFold Q80ZW0
Predicted Effect possibly damaging
Transcript: ENSMUST00000165413
AA Change: T299A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: T299A

DomainStartEndE-ValueType
low complexity region 51 69 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
Pfam:Pkinase_Tyr 207 295 2e-6 PFAM
Pfam:Pkinase 207 531 8.6e-51 PFAM
Pfam:Pkinase_Tyr 304 532 2.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166282
AA Change: T299A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: T299A

DomainStartEndE-ValueType
low complexity region 51 69 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
Pfam:Pkinase_Tyr 207 300 5.9e-7 PFAM
Pfam:Pkinase 207 311 1e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand1 C A 10: 119,211,135 V817L probably benign Het
Cdc16 T G 8: 13,767,575 Y295* probably null Het
Cdk12 T A 11: 98,222,665 N758K unknown Het
Cep295 A G 9: 15,322,852 L2216S probably benign Het
Chpf2 A G 5: 24,592,261 E735G probably damaging Het
Chrdl2 A G 7: 100,034,641 T432A probably damaging Het
Cyp4a12b T A 4: 115,438,049 probably null Het
D130043K22Rik T G 13: 24,867,174 D464E probably damaging Het
Dst G T 1: 34,306,624 A7622S probably damaging Het
Fdx1 A T 9: 51,948,649 I127N probably damaging Het
Fem1a A G 17: 56,258,355 I483V possibly damaging Het
Gcc2 C A 10: 58,258,248 D51E probably benign Het
Glrb A G 3: 80,861,781 S178P probably damaging Het
Inpp4b A G 8: 81,856,750 Q161R probably damaging Het
Lrrc45 T C 11: 120,720,610 probably benign Het
Myh3 T C 11: 67,090,855 Y757H probably damaging Het
Myo1h A C 5: 114,315,071 probably benign Het
Nudt13 T A 14: 20,306,350 S114R probably damaging Het
Omg T C 11: 79,502,714 N106S possibly damaging Het
Pbrm1 T C 14: 31,087,619 V1163A probably damaging Het
Pi4k2b T A 5: 52,760,950 Y350* probably null Het
Prr29 C A 11: 106,375,207 T32K possibly damaging Het
Psd4 C T 2: 24,394,286 A54V probably benign Het
Scd3 A G 19: 44,235,808 H160R probably damaging Het
Shroom3 T C 5: 92,951,065 L1387P probably damaging Het
Thsd7b G A 1: 130,165,077 S1238N probably benign Het
Utp11 T C 4: 124,682,457 K131R probably benign Het
Vps50 C T 6: 3,532,177 Q227* probably null Het
Zan T C 5: 137,464,113 T935A unknown Het
Other mutations in Stk35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02609:Stk35 APN 2 129801801 missense probably damaging 1.00
fingernails UTSW 2 129810935 missense probably damaging 1.00
R2256_Stk35_331 UTSW 2 129810507 nonsense probably null
skinned UTSW 2 129811235 intron probably benign
R0045:Stk35 UTSW 2 129800568 nonsense probably null
R0306:Stk35 UTSW 2 129801763 nonsense probably null
R0784:Stk35 UTSW 2 129810802 nonsense probably null
R1536:Stk35 UTSW 2 129811235 intron probably benign
R2256:Stk35 UTSW 2 129810507 nonsense probably null
R2507:Stk35 UTSW 2 129801515 missense probably damaging 0.97
R2508:Stk35 UTSW 2 129801515 missense probably damaging 0.97
R3848:Stk35 UTSW 2 129800736 missense probably benign 0.13
R3872:Stk35 UTSW 2 129810575 missense possibly damaging 0.82
R4466:Stk35 UTSW 2 129801516 missense probably damaging 0.99
R5144:Stk35 UTSW 2 129810935 missense probably damaging 1.00
R6267:Stk35 UTSW 2 129810888 nonsense probably null
R6296:Stk35 UTSW 2 129810888 nonsense probably null
R6480:Stk35 UTSW 2 129810687 missense possibly damaging 0.95
R6807:Stk35 UTSW 2 129801653 missense probably damaging 0.97
R7203:Stk35 UTSW 2 129801593 missense probably benign
R7476:Stk35 UTSW 2 129810725 missense probably damaging 1.00
R8505:Stk35 UTSW 2 129801729 missense probably damaging 0.99
R8998:Stk35 UTSW 2 129810589 missense probably damaging 1.00
R8999:Stk35 UTSW 2 129810589 missense probably damaging 1.00
R9224:Stk35 UTSW 2 129810571 missense probably damaging 1.00
Posted On 2012-12-06