Incidental Mutation 'IGL02143:Stk36'
ID 281695
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 # IGL02143
Quality Score
Status
Chromosome 1
Chromosomal Location 74640604-74676053 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 74655728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087183] [ENSMUST00000087186] [ENSMUST00000148456]
AlphaFold Q69ZM6
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 noncoding transcript
Transcript: ENSMUST00000145673
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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,194,278 (GRCm39) M1T probably null Het
Ager G A 17: 34,818,092 (GRCm39) G183E probably damaging Het
Alcam C A 16: 52,125,982 (GRCm39) V112L probably damaging Het
Amot T A X: 144,270,024 (GRCm39) Q204H probably damaging Het
Ankar C T 1: 72,697,808 (GRCm39) probably null Het
Armc9 A G 1: 86,104,587 (GRCm39) M279V possibly damaging Het
Bpifb1 C T 2: 154,051,849 (GRCm39) T218I probably benign Het
Cacna1f A C X: 7,480,234 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,395,474 (GRCm39) probably null Het
Ccdc57 A T 11: 120,752,069 (GRCm39) C837* probably null Het
Ctbp2 G A 7: 132,592,885 (GRCm39) A808V probably damaging Het
Dcbld2 T C 16: 58,268,889 (GRCm39) probably null Het
Dis3 T C 14: 99,328,754 (GRCm39) probably benign Het
Disp2 T C 2: 118,620,450 (GRCm39) F394S probably damaging Het
Dnah1 T C 14: 31,005,246 (GRCm39) N2336S probably damaging Het
Drap1 C A 19: 5,473,871 (GRCm39) L66F probably damaging Het
Eif5a2 C T 3: 28,847,888 (GRCm39) R109C probably benign Het
Enpp1 A T 10: 24,553,872 (GRCm39) D105E probably damaging Het
Evi5l G A 8: 4,241,293 (GRCm39) M275I probably damaging Het
Flt1 T C 5: 147,515,246 (GRCm39) T1059A probably benign Het
Fndc3c1 T C X: 105,516,340 (GRCm39) probably benign Het
Git1 T C 11: 77,396,813 (GRCm39) V645A possibly damaging Het
Gm7735 T A 16: 88,966,437 (GRCm39) C20* probably null Het
Ighv1-42 G T 12: 114,900,906 (GRCm39) P60T probably benign Het
Jakmip2 A T 18: 43,696,350 (GRCm39) L533Q probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lpin2 T C 17: 71,550,921 (GRCm39) S694P probably damaging Het
Mab21l2 C T 3: 86,454,562 (GRCm39) R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 (GRCm39) S174T probably benign Het
Neb T C 2: 52,181,211 (GRCm39) Y1132C probably damaging Het
Nhsl1 A T 10: 18,387,383 (GRCm39) H219L possibly damaging Het
Nwd2 T A 5: 63,948,996 (GRCm39) probably null Het
Obp1a A C X: 77,134,449 (GRCm39) M18R possibly damaging Het
Or13a19 A T 7: 139,903,505 (GRCm39) K298* probably null Het
Or2ag13 T C 7: 106,473,180 (GRCm39) T91A probably benign Het
Pabpc5 T A X: 118,837,688 (GRCm39) M1K probably null Het
Paxip1 A G 5: 27,980,596 (GRCm39) probably benign Het
Perm1 A G 4: 156,302,500 (GRCm39) E348G probably benign Het
Pfkfb1 T C X: 149,405,138 (GRCm39) F170L probably damaging Het
Pou3f3 A G 1: 42,737,686 (GRCm39) M461V probably benign Het
Ppfia2 G A 10: 106,693,360 (GRCm39) D622N probably damaging Het
Prtg T G 9: 72,799,606 (GRCm39) S801R probably damaging Het
Rars2 T A 4: 34,623,404 (GRCm39) probably benign Het
Rasal1 A G 5: 120,790,917 (GRCm39) D35G probably damaging Het
Repin1 T A 6: 48,574,055 (GRCm39) L272Q probably damaging Het
Spmip5 C A 19: 58,777,684 (GRCm39) R34L possibly damaging Het
Tbxa2r A G 10: 81,170,320 (GRCm39) T269A probably benign Het
Tmem132c G A 5: 127,640,466 (GRCm39) R879Q probably benign Het
Vmn1r78 C A 7: 11,886,407 (GRCm39) A6E probably benign Het
Vps45 A T 3: 95,941,133 (GRCm39) N369K probably benign Het
Vps45 T C 3: 95,926,958 (GRCm39) I530V probably benign Het
Zkscan16 G A 4: 58,956,911 (GRCm39) G398R 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
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
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 2015-04-16