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)
|
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
Domain | Start | End | E-Value | Type |
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
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 |
probably benign
Transcript: ENSMUST00000087186
|
SMART Domains |
Protein: ENSMUSP00000084433 Gene: ENSMUSG00000033276
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 |
probably benign
Transcript: ENSMUST00000113694
|
SMART Domains |
Protein: ENSMUSP00000109324 Gene: ENSMUSG00000033276
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
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: 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
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
56 |
8.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136078
|
SMART Domains |
Protein: ENSMUSP00000117692 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
RWD
|
24 |
123 |
1.97e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154874
|
SMART Domains |
Protein: ENSMUSP00000120646 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |