Incidental Mutation 'R0520:Stk36'
ID 48432
Institutional Source Beutler Lab
Gene Symbol Stk36
Ensembl Gene ENSMUSG00000033276
Gene Name serine/threonine kinase 36
Synonyms 1700112N14Rik, Fused
MMRRC Submission 038713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0520 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74640604-74676053 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to G at 74641365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027357] [ENSMUST00000087183] [ENSMUST00000087186] [ENSMUST00000113694] [ENSMUST00000113721] [ENSMUST00000127938] [ENSMUST00000148456] [ENSMUST00000135140] [ENSMUST00000189830] [ENSMUST00000154874] [ENSMUST00000132081]
AlphaFold Q69ZM6
Predicted Effect probably benign
Transcript: ENSMUST00000027357
SMART Domains Protein: ENSMUSP00000027357
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 18 127 4.66e-31 SMART
RING 134 198 2.87e-5 SMART
low complexity region 368 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087183
SMART Domains Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276

DomainStartEndE-ValueType
S_TKc 4 254 5.24e-100 SMART
low complexity region 405 419 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
low complexity region 705 718 N/A INTRINSIC
low complexity region 826 836 N/A INTRINSIC
low complexity region 852 860 N/A INTRINSIC
low complexity region 900 914 N/A INTRINSIC
low complexity region 956 969 N/A INTRINSIC
low complexity region 994 1009 N/A INTRINSIC
low complexity region 1014 1030 N/A INTRINSIC
Pfam:HEAT_2 1112 1218 7.8e-11 PFAM
Pfam:HEAT_2 1158 1259 3e-11 PFAM
Pfam:HEAT_EZ 1207 1261 4.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087186
SMART Domains Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276

DomainStartEndE-ValueType
S_TKc 4 254 5.24e-100 SMART
low complexity region 405 419 N/A INTRINSIC
low complexity region 577 590 N/A INTRINSIC
low complexity region 698 708 N/A INTRINSIC
low complexity region 724 732 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
low complexity region 828 841 N/A INTRINSIC
low complexity region 866 881 N/A INTRINSIC
low complexity region 886 902 N/A INTRINSIC
Pfam:HEAT_2 984 1090 2.9e-10 PFAM
Pfam:HEAT_2 1026 1131 9.6e-11 PFAM
Pfam:HEAT_EZ 1039 1092 2.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113694
SMART Domains Protein: ENSMUSP00000109324
Gene: ENSMUSG00000033276

DomainStartEndE-ValueType
Pfam:Pkinase 4 145 1.6e-46 PFAM
Pfam:Pkinase_Tyr 4 145 3.3e-29 PFAM
Pfam:YrbL-PhoP_reg 17 143 7.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113721
SMART Domains Protein: ENSMUSP00000109350
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 18 127 4.66e-31 SMART
RING 134 197 3.53e-5 SMART
low complexity region 367 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127938
SMART Domains Protein: ENSMUSP00000116973
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RING 23 87 2.87e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128491
Predicted Effect probably benign
Transcript: ENSMUST00000148456
SMART Domains Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276

DomainStartEndE-ValueType
S_TKc 4 254 5.24e-100 SMART
low complexity region 405 419 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
low complexity region 705 718 N/A INTRINSIC
low complexity region 826 836 N/A INTRINSIC
low complexity region 852 860 N/A INTRINSIC
low complexity region 898 912 N/A INTRINSIC
low complexity region 954 967 N/A INTRINSIC
low complexity region 992 1007 N/A INTRINSIC
low complexity region 1012 1028 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151003
Predicted Effect probably benign
Transcript: ENSMUST00000135140
Predicted Effect probably benign
Transcript: ENSMUST00000189830
SMART Domains Protein: ENSMUSP00000140912
Gene: ENSMUSG00000033276

DomainStartEndE-ValueType
Pfam:Pkinase 1 56 8.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136078
SMART Domains Protein: ENSMUSP00000117692
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 24 123 1.97e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154874
SMART Domains Protein: ENSMUSP00000120646
Gene: ENSMUSG00000026171

DomainStartEndE-ValueType
RWD 1 94 6.36e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132081
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Nullizygous mutations cause postnatal growth defects and lethality. Homozygotes for a null allele show hydrocephaly, cranial defects, otitis media and sterility. Homozygotes for another null allele show additional defects in lung and renal development, thymus and spleen atrophy, rhinitis and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,288,952 (GRCm39) I154T possibly damaging Het
Acr G T 15: 89,457,430 (GRCm39) C226F probably damaging Het
Aff1 C T 5: 103,995,617 (GRCm39) R1070* probably null Het
Aldh9a1 C T 1: 167,188,960 (GRCm39) probably benign Het
Apaf1 A T 10: 90,915,851 (GRCm39) H12Q probably damaging Het
Asic1 A T 15: 99,593,416 (GRCm39) I291F probably damaging Het
Aspm T A 1: 139,406,558 (GRCm39) M1815K possibly damaging Het
Asxl3 A T 18: 22,656,043 (GRCm39) D1351V probably damaging Het
Atg9a C T 1: 75,163,178 (GRCm39) W299* probably null Het
B3gntl1 C A 11: 121,514,314 (GRCm39) V313F possibly damaging Het
B4galnt4 T A 7: 140,647,286 (GRCm39) C345* probably null Het
Bicc1 A T 10: 70,793,020 (GRCm39) F211L probably damaging Het
Cachd1 T G 4: 100,754,900 (GRCm39) V117G probably damaging Het
Cdc16 G A 8: 13,810,569 (GRCm39) probably null Het
Cers6 C T 2: 68,935,435 (GRCm39) Q312* probably null Het
Csta2 A G 16: 36,073,461 (GRCm39) I16V probably benign Het
Dclre1c A G 2: 3,437,512 (GRCm39) H115R probably damaging Het
Ddx20 T C 3: 105,594,692 (GRCm39) T18A probably benign Het
Dhx57 A G 17: 80,565,604 (GRCm39) V816A possibly damaging Het
Dlgap1 C T 17: 70,823,989 (GRCm39) Q325* probably null Het
Dnaja1 A T 4: 40,728,072 (GRCm39) M178L probably benign Het
Ecd A T 14: 20,378,732 (GRCm39) S454T probably benign Het
Efcab6 G A 15: 83,834,247 (GRCm39) H454Y probably benign Het
Exo1 T A 1: 175,727,031 (GRCm39) D447E probably benign Het
F5 T G 1: 164,037,156 (GRCm39) I1965S probably benign Het
Fbn2 A G 18: 58,146,821 (GRCm39) C2692R probably damaging Het
Fggy T A 4: 95,489,340 (GRCm39) L152Q probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9871 A G 6: 101,778,540 (GRCm39) noncoding transcript Het
Gnai2 A T 9: 107,497,372 (GRCm39) D7E probably benign Het
Gon7 C T 12: 102,724,047 (GRCm39) probably benign Het
H2-K2 A T 17: 34,216,390 (GRCm39) V272E probably damaging Het
Hectd4 G T 5: 121,469,770 (GRCm39) R2555L possibly damaging Het
Hexb T C 13: 97,317,618 (GRCm39) R360G probably benign Het
Igsf9b C A 9: 27,234,546 (GRCm39) S470R probably benign Het
Inpp5d T C 1: 87,633,642 (GRCm39) probably benign Het
Inpp5k C A 11: 75,530,356 (GRCm39) Y265* probably null Het
Klhl33 T G 14: 51,129,140 (GRCm39) E436D probably damaging Het
Krt80 A G 15: 101,267,898 (GRCm39) L13P probably benign Het
Krtap19-2 C T 16: 88,670,749 (GRCm39) probably benign Het
Marchf10 T C 11: 105,280,708 (GRCm39) T526A probably benign Het
Mcrs1 A G 15: 99,146,336 (GRCm39) probably null Het
Msh2 G T 17: 88,024,972 (GRCm39) V617F possibly damaging Het
Nckap1 A C 2: 80,371,874 (GRCm39) probably benign Het
Nek4 T A 14: 30,681,263 (GRCm39) probably benign Het
Or7h8 G A 9: 20,123,791 (GRCm39) V49I probably benign Het
Or8b12b T C 9: 37,684,849 (GRCm39) V298A probably benign Het
Or8k22 G T 2: 86,163,475 (GRCm39) T75K probably damaging Het
Or9s14 T A 1: 92,536,471 (GRCm39) V304E probably damaging Het
Osgin1 A G 8: 120,169,247 (GRCm39) H48R probably damaging Het
Pam T A 1: 97,811,920 (GRCm39) T369S probably benign Het
Pclo C T 5: 14,763,844 (GRCm39) Q821* probably null Het
Plekhm1 T C 11: 103,285,770 (GRCm39) I222V probably benign Het
Ptprg T G 14: 12,199,783 (GRCm38) N65K possibly damaging Het
Pum2 T A 12: 8,771,710 (GRCm39) V351E probably damaging Het
Slc25a54 T A 3: 109,014,546 (GRCm39) probably benign Het
Smchd1 A T 17: 71,736,538 (GRCm39) D587E possibly damaging Het
Stap1 A G 5: 86,238,823 (GRCm39) M164V probably benign Het
Stat5a T C 11: 100,752,252 (GRCm39) V30A probably damaging Het
Tiam1 G T 16: 89,614,839 (GRCm39) probably benign Het
Tmc5 T C 7: 118,265,799 (GRCm39) M553T probably damaging Het
Tmem14a T A 1: 21,299,636 (GRCm39) Y89N possibly damaging Het
Tpp2 A G 1: 44,029,690 (GRCm39) Y991C probably damaging Het
Ttc7 A G 17: 87,666,579 (GRCm39) K615E possibly damaging Het
Ubac2 C T 14: 122,231,754 (GRCm39) P227S probably damaging Het
Vit A C 17: 78,932,588 (GRCm39) K565T probably damaging Het
Vps13c T C 9: 67,853,133 (GRCm39) F2409L possibly damaging Het
Wdr64 A G 1: 175,553,958 (GRCm39) T173A probably damaging Het
Zfp759 T C 13: 67,285,419 (GRCm39) I60T probably benign Het
Zfp81 A G 17: 33,553,351 (GRCm39) S488P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Stk36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Stk36 APN 1 74,673,861 (GRCm39) missense possibly damaging 0.82
IGL00485:Stk36 APN 1 74,673,244 (GRCm39) missense probably benign
IGL00792:Stk36 APN 1 74,650,276 (GRCm39) missense probably benign 0.01
IGL00941:Stk36 APN 1 74,663,093 (GRCm39) missense possibly damaging 0.85
IGL01324:Stk36 APN 1 74,664,769 (GRCm39) missense possibly damaging 0.66
IGL01538:Stk36 APN 1 74,672,797 (GRCm39) missense probably benign 0.03
IGL02143:Stk36 APN 1 74,655,728 (GRCm39) splice site probably benign
IGL02223:Stk36 APN 1 74,662,496 (GRCm39) missense possibly damaging 0.84
IGL02371:Stk36 APN 1 74,661,414 (GRCm39) missense probably benign 0.13
IGL02618:Stk36 APN 1 74,670,834 (GRCm39) splice site probably benign
IGL02655:Stk36 APN 1 74,673,694 (GRCm39) missense probably damaging 1.00
IGL02993:Stk36 APN 1 74,661,446 (GRCm39) missense probably benign 0.05
IGL03125:Stk36 APN 1 74,662,472 (GRCm39) missense probably damaging 1.00
IGL03242:Stk36 APN 1 74,662,511 (GRCm39) missense possibly damaging 0.70
R0373:Stk36 UTSW 1 74,672,779 (GRCm39) missense probably damaging 0.99
R0377:Stk36 UTSW 1 74,651,889 (GRCm39) missense probably benign
R0464:Stk36 UTSW 1 74,650,331 (GRCm39) missense probably damaging 0.98
R0551:Stk36 UTSW 1 74,655,780 (GRCm39) missense probably benign 0.00
R1118:Stk36 UTSW 1 74,671,925 (GRCm39) missense probably benign 0.29
R1119:Stk36 UTSW 1 74,671,925 (GRCm39) missense probably benign 0.29
R1471:Stk36 UTSW 1 74,650,314 (GRCm39) missense probably benign 0.14
R1915:Stk36 UTSW 1 74,673,346 (GRCm39) missense probably benign 0.08
R2159:Stk36 UTSW 1 74,673,896 (GRCm39) missense probably benign 0.00
R2290:Stk36 UTSW 1 74,665,303 (GRCm39) splice site probably benign
R2897:Stk36 UTSW 1 74,671,984 (GRCm39) missense probably null
R2898:Stk36 UTSW 1 74,671,984 (GRCm39) missense probably null
R4032:Stk36 UTSW 1 74,665,207 (GRCm39) missense probably benign
R4353:Stk36 UTSW 1 74,671,966 (GRCm39) missense possibly damaging 0.53
R4683:Stk36 UTSW 1 74,673,344 (GRCm39) missense probably benign 0.22
R4753:Stk36 UTSW 1 74,665,255 (GRCm39) missense probably benign 0.05
R4891:Stk36 UTSW 1 74,642,415 (GRCm39) missense probably damaging 1.00
R5068:Stk36 UTSW 1 74,661,504 (GRCm39) missense probably benign 0.00
R5115:Stk36 UTSW 1 74,674,986 (GRCm39) missense probably damaging 1.00
R5266:Stk36 UTSW 1 74,650,317 (GRCm39) missense probably benign
R5412:Stk36 UTSW 1 74,644,615 (GRCm39) splice site probably null
R5533:Stk36 UTSW 1 74,665,750 (GRCm39) missense possibly damaging 0.65
R5782:Stk36 UTSW 1 74,644,584 (GRCm39) missense possibly damaging 0.81
R6149:Stk36 UTSW 1 74,673,388 (GRCm39) missense probably benign 0.00
R6208:Stk36 UTSW 1 74,650,591 (GRCm39) missense probably benign 0.03
R6497:Stk36 UTSW 1 74,642,391 (GRCm39) missense probably damaging 1.00
R6805:Stk36 UTSW 1 74,661,398 (GRCm39) missense probably benign
R7064:Stk36 UTSW 1 74,649,979 (GRCm39) missense probably damaging 1.00
R7102:Stk36 UTSW 1 74,661,382 (GRCm39) missense probably benign 0.10
R7393:Stk36 UTSW 1 74,650,352 (GRCm39) nonsense probably null
R7408:Stk36 UTSW 1 74,672,725 (GRCm39) missense probably damaging 1.00
R7471:Stk36 UTSW 1 74,673,479 (GRCm39) missense unknown
R7816:Stk36 UTSW 1 74,650,328 (GRCm39) nonsense probably null
R8017:Stk36 UTSW 1 74,651,925 (GRCm39) missense probably benign
R8019:Stk36 UTSW 1 74,651,925 (GRCm39) missense probably benign
R8104:Stk36 UTSW 1 74,665,756 (GRCm39) missense probably benign 0.26
R8381:Stk36 UTSW 1 74,672,333 (GRCm39) missense probably benign
R8526:Stk36 UTSW 1 74,673,703 (GRCm39) missense probably benign 0.00
R8681:Stk36 UTSW 1 74,661,392 (GRCm39) missense probably damaging 0.99
R9320:Stk36 UTSW 1 74,655,793 (GRCm39) missense possibly damaging 0.64
R9436:Stk36 UTSW 1 74,650,272 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCTGGAGACACTAAGACCTGATCATC -3'
(R):5'- CTGACCTAAGCAAAGGACTCAGCG -3'

Sequencing Primer
(F):5'- CTCCCATGTTATGAGCCAGG -3'
(R):5'- ggggaaaggagaaggaaaagg -3'
Posted On 2013-06-12