Incidental Mutation 'R5144:Stk35'
ID 395038
Institutional Source Beutler Lab
Gene Symbol Stk35
Ensembl Gene ENSMUSG00000037885
Gene Name serine/threonine kinase 35
Synonyms CLP-36 interacting kinase, CLIK1, 1700054C12Rik
MMRRC Submission 042728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5144 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 129642437-129674207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129652855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 452 (M452K)
Ref Sequence ENSEMBL: ENSMUSP00000126541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165413] [ENSMUST00000166282]
AlphaFold Q80ZW0
Predicted Effect probably damaging
Transcript: ENSMUST00000165413
AA Change: M452K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: M452K

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 benign
Transcript: ENSMUST00000166282
SMART Domains Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885

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
Meta Mutation Damage Score 0.9583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik T A 2: 68,446,604 (GRCm39) probably benign Het
Arpc2 A T 1: 74,287,367 (GRCm39) K62N probably damaging Het
B4galt5 C T 2: 167,148,516 (GRCm39) E201K possibly damaging Het
Bub1b C T 2: 118,445,980 (GRCm39) T334M possibly damaging Het
Ccdc71 T C 9: 108,341,051 (GRCm39) V288A probably benign Het
Cep350 G A 1: 155,786,896 (GRCm39) R1444W probably damaging Het
Chrna4 A G 2: 180,666,623 (GRCm39) L605P probably damaging Het
Col6a5 T A 9: 105,766,482 (GRCm39) I1813F probably damaging Het
Col9a1 A G 1: 24,278,434 (GRCm39) I821V probably benign Het
D430041D05Rik T C 2: 104,088,847 (GRCm39) D43G probably damaging Het
Depdc7 T C 2: 104,560,598 (GRCm39) Y132C probably damaging Het
Dppa2 T C 16: 48,137,666 (GRCm39) V216A probably damaging Het
Ect2l A T 10: 18,020,325 (GRCm39) N598K probably benign Het
Eif3c T C 7: 126,162,238 (GRCm39) T195A probably benign Het
Epg5 T C 18: 78,058,895 (GRCm39) V1883A probably damaging Het
Ino80c T A 18: 24,241,935 (GRCm39) D150V probably benign Het
Kcnb1 T A 2: 166,947,864 (GRCm39) Y328F probably damaging Het
Kcnj3 G A 2: 55,337,059 (GRCm39) probably null Het
Ncor1 T G 11: 62,240,290 (GRCm39) S894R probably damaging Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Nudt19 T C 7: 35,254,650 (GRCm39) T194A probably benign Het
Or1j4 A T 2: 36,740,156 (GRCm39) T33S probably benign Het
Or8b53 C T 9: 38,667,689 (GRCm39) S235L possibly damaging Het
Pappa2 T A 1: 158,784,703 (GRCm39) R102S probably benign Het
Pik3c2a T C 7: 115,950,021 (GRCm39) N1332S probably benign Het
Plppr1 T A 4: 49,319,800 (GRCm39) V142E possibly damaging Het
Prdm6 C A 18: 53,598,110 (GRCm39) probably benign Het
Prm2 T A 16: 10,609,732 (GRCm39) probably benign Het
Prmt3 T C 7: 49,435,883 (GRCm39) S155P possibly damaging Het
Rars2 T C 4: 34,656,793 (GRCm39) Y481H probably benign Het
Rgs2 G A 1: 143,877,437 (GRCm39) T206M probably benign Het
Slc2a8 C T 2: 32,871,785 (GRCm39) R56H probably damaging Het
Spmip11 C A 15: 98,483,148 (GRCm39) probably null Het
Tcf3 G A 10: 80,251,071 (GRCm39) H454Y probably damaging Het
Tgm3 C T 2: 129,890,202 (GRCm39) S655F possibly damaging Het
Tssc4 T G 7: 142,623,770 (GRCm39) L26R probably damaging Het
Utp11 A T 4: 124,572,695 (GRCm39) probably benign Het
Vmn1r237 C G 17: 21,534,688 (GRCm39) A137G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps8 T C 16: 21,378,103 (GRCm39) L1038P probably damaging Het
Wipf3 C T 6: 54,462,660 (GRCm39) A290V probably damaging Het
Zdhhc25 T G 15: 88,485,259 (GRCm39) L198R probably damaging Het
Zdhhc6 A T 19: 55,302,998 (GRCm39) M1K probably null Het
Other mutations in Stk35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Stk35 APN 2 129,643,912 (GRCm39) missense probably damaging 1.00
IGL02609:Stk35 APN 2 129,643,721 (GRCm39) missense probably damaging 1.00
fingernails UTSW 2 129,652,855 (GRCm39) missense probably damaging 1.00
R2256_Stk35_331 UTSW 2 129,652,427 (GRCm39) nonsense probably null
skinned UTSW 2 129,653,155 (GRCm39) intron probably benign
R0045:Stk35 UTSW 2 129,642,488 (GRCm39) nonsense probably null
R0306:Stk35 UTSW 2 129,643,683 (GRCm39) nonsense probably null
R0784:Stk35 UTSW 2 129,652,722 (GRCm39) nonsense probably null
R1536:Stk35 UTSW 2 129,653,155 (GRCm39) intron probably benign
R2256:Stk35 UTSW 2 129,652,427 (GRCm39) nonsense probably null
R2507:Stk35 UTSW 2 129,643,435 (GRCm39) missense probably damaging 0.97
R2508:Stk35 UTSW 2 129,643,435 (GRCm39) missense probably damaging 0.97
R3848:Stk35 UTSW 2 129,642,656 (GRCm39) missense probably benign 0.13
R3872:Stk35 UTSW 2 129,652,495 (GRCm39) missense possibly damaging 0.82
R4466:Stk35 UTSW 2 129,643,436 (GRCm39) missense probably damaging 0.99
R6267:Stk35 UTSW 2 129,652,808 (GRCm39) nonsense probably null
R6296:Stk35 UTSW 2 129,652,808 (GRCm39) nonsense probably null
R6480:Stk35 UTSW 2 129,652,607 (GRCm39) missense possibly damaging 0.95
R6807:Stk35 UTSW 2 129,643,573 (GRCm39) missense probably damaging 0.97
R7203:Stk35 UTSW 2 129,643,513 (GRCm39) missense probably benign
R7476:Stk35 UTSW 2 129,652,645 (GRCm39) missense probably damaging 1.00
R8505:Stk35 UTSW 2 129,643,649 (GRCm39) missense probably damaging 0.99
R8998:Stk35 UTSW 2 129,652,509 (GRCm39) missense probably damaging 1.00
R8999:Stk35 UTSW 2 129,652,509 (GRCm39) missense probably damaging 1.00
R9224:Stk35 UTSW 2 129,652,491 (GRCm39) missense probably damaging 1.00
R9760:Stk35 UTSW 2 129,642,605 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGCAGACTTTGGACTGAGC -3'
(R):5'- GCAGCTAACATGTCTTTCAAGAGC -3'

Sequencing Primer
(F):5'- ACTTTGGACTGAGCAAGGTC -3'
(R):5'- AAGAGCTGCTTGACCCCCTC -3'
Posted On 2016-06-21