Incidental Mutation 'IGL02993:Stk16'
ID 407028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk16
Ensembl Gene ENSMUSG00000026201
Gene Name serine/threonine kinase 16
Synonyms EDPK, Embryo-Derived Protein Kinase, PKL12, Krct
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02993
Quality Score
Status
Chromosome 1
Chromosomal Location 75187482-75192250 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75189648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 69 (Q69K)
Ref Sequence ENSEMBL: ENSMUSP00000139998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000113623] [ENSMUST00000123825] [ENSMUST00000144355] [ENSMUST00000155716] [ENSMUST00000185448] [ENSMUST00000191108] [ENSMUST00000188460] [ENSMUST00000189698] [ENSMUST00000189131] [ENSMUST00000188593] [ENSMUST00000190717] [ENSMUST00000186758] [ENSMUST00000186213]
AlphaFold O88697
Predicted Effect possibly damaging
Transcript: ENSMUST00000027401
AA Change: Q187K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201
AA Change: Q187K

DomainStartEndE-ValueType
Pfam:Pkinase 20 290 3.3e-47 PFAM
Pfam:Pkinase_Tyr 21 290 3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079464
SMART Domains Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202

DomainStartEndE-ValueType
Tubulin 49 246 4.34e-79 SMART
Tubulin_C 248 393 7.88e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113623
SMART Domains Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 351 4.1e-123 PFAM
Pfam:Glyco_hydro_42 48 209 6.6e-12 PFAM
low complexity region 355 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123825
SMART Domains Protein: ENSMUSP00000122688
Gene: ENSMUSG00000026201

DomainStartEndE-ValueType
Pfam:Pkinase 20 122 9.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142052
Predicted Effect probably benign
Transcript: ENSMUST00000186173
Predicted Effect probably benign
Transcript: ENSMUST00000144355
SMART Domains Protein: ENSMUSP00000115964
Gene: ENSMUSG00000026201

DomainStartEndE-ValueType
Pfam:Pkinase 20 122 9.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155716
SMART Domains Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 351 4.2e-125 PFAM
Pfam:Glyco_hydro_42 48 209 6.6e-12 PFAM
low complexity region 355 371 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185448
SMART Domains Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Glyco_hydro_35 34 188 1.6e-71 PFAM
Pfam:Glyco_hydro_42 48 188 6.4e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191108
AA Change: Q187K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201
AA Change: Q187K

DomainStartEndE-ValueType
Pfam:Pkinase 20 186 8.6e-29 PFAM
Pfam:Pkinase_Tyr 21 184 2.1e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188460
AA Change: Q69K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201
AA Change: Q69K

DomainStartEndE-ValueType
S_TKc 20 172 1e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000189698
AA Change: Q187K

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201
AA Change: Q187K

DomainStartEndE-ValueType
S_TKc 20 203 1.1e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187103
Predicted Effect probably benign
Transcript: ENSMUST00000189131
SMART Domains Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202

DomainStartEndE-ValueType
Pfam:Tubulin 1 81 3.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186971
Predicted Effect probably benign
Transcript: ENSMUST00000188593
SMART Domains Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202

DomainStartEndE-ValueType
Pfam:Tubulin 2 75 2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190717
SMART Domains Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202

DomainStartEndE-ValueType
Pfam:Tubulin 1 89 1.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186758
SMART Domains Protein: ENSMUSP00000140552
Gene: ENSMUSG00000026202

DomainStartEndE-ValueType
Pfam:Tubulin 1 100 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186213
SMART Domains Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202

DomainStartEndE-ValueType
Tubulin 49 246 4.34e-79 SMART
Tubulin_C 248 393 7.88e-59 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A C 3: 121,567,659 (GRCm39) I434S probably benign Het
Actr2 C T 11: 20,022,514 (GRCm39) R319Q probably damaging Het
Atp13a5 G T 16: 29,112,322 (GRCm39) Y606* probably null Het
Baiap3 C T 17: 25,469,056 (GRCm39) probably null Het
Cers2 A G 3: 95,227,396 (GRCm39) Y8C probably benign Het
Ces1g T A 8: 94,043,707 (GRCm39) M411L probably benign Het
Chd6 A G 2: 160,894,304 (GRCm39) probably benign Het
Cyp2d40 C A 15: 82,645,722 (GRCm39) K94N probably benign Het
Ddx51 T C 5: 110,803,487 (GRCm39) V323A possibly damaging Het
Dock1 G A 7: 134,346,027 (GRCm39) V190I probably benign Het
Evc2 A G 5: 37,576,501 (GRCm39) T1042A probably benign Het
Fat4 T A 3: 39,011,304 (GRCm39) S2135T probably damaging Het
Gpat2 T C 2: 127,269,486 (GRCm39) F46S probably damaging Het
Klhl38 T A 15: 58,185,851 (GRCm39) K293* probably null Het
Map4k4 T C 1: 40,053,348 (GRCm39) I916T probably damaging Het
Nrap T A 19: 56,333,965 (GRCm39) K964M probably damaging Het
Osbpl5 T C 7: 143,253,071 (GRCm39) probably null Het
Perm1 A G 4: 156,302,236 (GRCm39) Q260R probably benign Het
Ralgapb T A 2: 158,279,314 (GRCm39) N133K possibly damaging Het
Scart2 A G 7: 139,876,486 (GRCm39) T537A probably benign Het
Slfn9 T C 11: 82,872,022 (GRCm39) S905G probably benign Het
Spata31g1 T C 4: 42,971,719 (GRCm39) Y351H probably damaging Het
Ssh2 C T 11: 77,344,370 (GRCm39) T785I probably damaging Het
Stk36 T C 1: 74,661,446 (GRCm39) L491P probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcp11 T C 17: 28,289,490 (GRCm39) N194D probably damaging Het
Trio C A 15: 27,830,325 (GRCm39) probably benign Het
Ugt2b1 A G 5: 87,069,850 (GRCm39) V297A possibly damaging Het
Ugt2b5 T G 5: 87,285,091 (GRCm39) H282P probably damaging Het
Usp53 A G 3: 122,727,492 (GRCm39) M1030T probably damaging Het
Vmn1r234 T A 17: 21,449,965 (GRCm39) I293N probably damaging Het
Vmn2r57 T A 7: 41,077,498 (GRCm39) T223S probably benign Het
Wdr20 G T 12: 110,760,742 (GRCm39) E543* probably null Het
Zbtb25 T A 12: 76,396,191 (GRCm39) N344Y probably damaging Het
Zcchc2 T C 1: 105,957,898 (GRCm39) F790L probably damaging Het
Other mutations in Stk16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Stk16 APN 1 75,189,835 (GRCm39) missense probably benign
IGL03215:Stk16 APN 1 75,189,236 (GRCm39) splice site probably benign
R5342:Stk16 UTSW 1 75,189,609 (GRCm39) missense probably benign 0.31
R5699:Stk16 UTSW 1 75,190,248 (GRCm39) missense probably damaging 1.00
R7445:Stk16 UTSW 1 75,190,296 (GRCm39) missense probably damaging 1.00
R7737:Stk16 UTSW 1 75,187,995 (GRCm39) missense probably damaging 1.00
R7878:Stk16 UTSW 1 75,189,589 (GRCm39) nonsense probably null
R8699:Stk16 UTSW 1 75,188,682 (GRCm39) missense probably benign 0.12
R9456:Stk16 UTSW 1 75,187,804 (GRCm39) critical splice donor site probably benign
Posted On 2016-08-02