Incidental Mutation 'IGL01538:Stk36'
| ID |
90028 |
| 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)
|
| Stock # |
IGL01538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74672797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1013
(V1013E)
|
| 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: V1015E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: V1015E
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
unknown
Transcript: ENSMUST00000087186
AA Change: V887E
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: V887E
| Domain | Start | End | E-Value | Type |
|---|
|
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: V1013E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: V1013E
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,708,032 (GRCm39) |
|
noncoding transcript |
Het |
| Abca3 |
G |
T |
17: 24,595,447 (GRCm39) |
C328F |
possibly damaging |
Het |
| Aldh5a1 |
T |
C |
13: 25,102,495 (GRCm39) |
N323D |
possibly damaging |
Het |
| Atp5f1c |
T |
C |
2: 10,073,477 (GRCm39) |
Y32C |
probably damaging |
Het |
| Capn3 |
T |
G |
2: 120,332,667 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
C |
A |
8: 96,277,866 (GRCm39) |
D275E |
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,133,545 (GRCm39) |
F562I |
possibly damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,306 (GRCm39) |
Y99H |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,929,490 (GRCm39) |
T152A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,988,870 (GRCm39) |
D257E |
probably damaging |
Het |
| Cilp2 |
T |
C |
8: 70,333,854 (GRCm39) |
D1048G |
probably benign |
Het |
| Clrn2 |
T |
G |
5: 45,617,408 (GRCm39) |
L93R |
probably damaging |
Het |
| Crat |
C |
A |
2: 30,299,978 (GRCm39) |
G134V |
probably damaging |
Het |
| Dis3 |
A |
T |
14: 99,335,181 (GRCm39) |
N140K |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,352,660 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
T |
A |
11: 120,683,905 (GRCm39) |
Q181L |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,421,047 (GRCm39) |
H90L |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,192,951 (GRCm39) |
V164E |
probably damaging |
Het |
| Grik3 |
A |
C |
4: 125,587,829 (GRCm39) |
I650L |
possibly damaging |
Het |
| Gvin3 |
T |
C |
7: 106,201,744 (GRCm39) |
D500G |
probably damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,896 (GRCm39) |
T233S |
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,602,288 (GRCm39) |
V341D |
probably benign |
Het |
| Igsf21 |
A |
G |
4: 139,755,029 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,758,538 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,919,721 (GRCm39) |
V864G |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,816 (GRCm39) |
E235G |
possibly damaging |
Het |
| Man2b1 |
G |
T |
8: 85,824,059 (GRCm39) |
K985N |
probably benign |
Het |
| Map4k1 |
C |
A |
7: 28,701,044 (GRCm39) |
P670Q |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,319 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,093 (GRCm39) |
Y178* |
probably null |
Het |
| Mrpl11 |
T |
A |
19: 5,013,449 (GRCm39) |
|
probably null |
Het |
| Nup85 |
T |
C |
11: 115,460,540 (GRCm39) |
S140P |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,167 (GRCm39) |
L199P |
possibly damaging |
Het |
| Or1j20 |
T |
C |
2: 36,760,532 (GRCm39) |
|
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,585,350 (GRCm39) |
V252E |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,942 (GRCm39) |
V134A |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,428,375 (GRCm39) |
L116* |
probably null |
Het |
| Pdcd7 |
C |
A |
9: 65,253,985 (GRCm39) |
R188S |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,918,111 (GRCm39) |
Y374C |
probably damaging |
Het |
| Ppp1r12a |
G |
T |
10: 108,069,882 (GRCm39) |
D224Y |
probably damaging |
Het |
| Ppp2r2d |
T |
A |
7: 138,478,364 (GRCm39) |
Y169N |
probably damaging |
Het |
| Prcp |
A |
C |
7: 92,559,421 (GRCm39) |
T162P |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,388,925 (GRCm39) |
S873P |
probably benign |
Het |
| Ptpn2 |
T |
C |
18: 67,814,623 (GRCm39) |
T129A |
probably benign |
Het |
| Rtkn |
G |
A |
6: 83,123,042 (GRCm39) |
R68H |
probably damaging |
Het |
| Sall4 |
C |
T |
2: 168,597,776 (GRCm39) |
D355N |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,534,196 (GRCm39) |
V493A |
probably benign |
Het |
| Sema4b |
G |
A |
7: 79,865,444 (GRCm39) |
A140T |
probably damaging |
Het |
| Shisa6 |
C |
A |
11: 66,108,654 (GRCm39) |
G408C |
possibly damaging |
Het |
| Slc7a9 |
G |
T |
7: 35,153,589 (GRCm39) |
V197F |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,071 (GRCm39) |
D249E |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,610,899 (GRCm39) |
V336A |
probably damaging |
Het |
| Tfb2m |
A |
T |
1: 179,365,409 (GRCm39) |
V185D |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,937,396 (GRCm39) |
Y76F |
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,303,177 (GRCm39) |
Y267C |
probably damaging |
Het |
| Trgv1 |
G |
A |
13: 19,520,740 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
A |
G |
10: 71,091,656 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,716 (GRCm39) |
R282S |
probably damaging |
Het |
| Vps4a |
A |
G |
8: 107,763,556 (GRCm39) |
D72G |
probably benign |
Het |
| Wipf2 |
T |
A |
11: 98,781,629 (GRCm39) |
V56D |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,402,991 (GRCm39) |
V586L |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,486,399 (GRCm39) |
E358G |
possibly damaging |
Het |
|
| Other mutations in Stk36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation