Incidental Mutation 'IGL02993:Stk36'
ID 407016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk36
Ensembl Gene ENSMUSG00000033276
Gene Name serine/threonine kinase 36
Synonyms 1700112N14Rik, Fused
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02993
Quality Score
Status
Chromosome 1
Chromosomal Location 74640604-74676053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74661446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 491 (L491P)
Ref Sequence ENSEMBL: ENSMUSP00000120020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087183] [ENSMUST00000087186] [ENSMUST00000148456]
AlphaFold Q69ZM6
Predicted Effect probably benign
Transcript: ENSMUST00000087183
AA Change: L491P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: L491P

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 noncoding transcript
Transcript: ENSMUST00000123154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145673
Predicted Effect probably benign
Transcript: ENSMUST00000148456
AA Change: L491P

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: L491P

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: ENSMUST00000155473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157007
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 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: 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
Stk16 C A 1: 75,189,648 (GRCm39) Q69K probably damaging 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 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
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
R0520:Stk36 UTSW 1 74,641,365 (GRCm39) unclassified probably benign
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
Posted On 2016-08-02