Incidental Mutation 'R5412:Stk36'
ID |
427508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk36
|
Ensembl Gene |
ENSMUSG00000033276 |
Gene Name |
serine/threonine kinase 36 |
Synonyms |
1700112N14Rik, Fused |
MMRRC Submission |
042981-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5412 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 74644615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027357]
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000113694]
[ENSMUST00000113721]
[ENSMUST00000127938]
[ENSMUST00000148456]
[ENSMUST00000189830]
[ENSMUST00000135140]
[ENSMUST00000154874]
[ENSMUST00000132081]
|
AlphaFold |
Q69ZM6 |
Predicted Effect |
probably null
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 damaging
Transcript: ENSMUST00000087183
AA Change: R124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084430 Gene: ENSMUSG00000033276 AA Change: R124L
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 damaging
Transcript: ENSMUST00000087186
AA Change: R124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084433 Gene: ENSMUSG00000033276 AA Change: R124L
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 damaging
Transcript: ENSMUST00000113694
AA Change: R124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109324 Gene: ENSMUSG00000033276 AA Change: R124L
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 null
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 null
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 damaging
Transcript: ENSMUST00000148456
AA Change: R124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120020 Gene: ENSMUSG00000033276 AA Change: R124L
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 |
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: ENSMUST00000135140
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154874
|
SMART Domains |
Protein: ENSMUSP00000120646 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
RWD
|
1 |
94 |
6.36e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132081
|
Predicted Effect |
probably null
Transcript: ENSMUST00000136078
|
SMART Domains |
Protein: ENSMUSP00000117692 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
RWD
|
24 |
123 |
1.97e-20 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
A |
9: 55,886,036 (GRCm39) |
N36Y |
probably damaging |
Het |
Ankfn1 |
T |
A |
11: 89,396,007 (GRCm39) |
E246D |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,446,913 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,653,522 (GRCm39) |
D300E |
probably benign |
Het |
C3 |
T |
C |
17: 57,527,187 (GRCm39) |
D754G |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,917,588 (GRCm39) |
Q240L |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,941,115 (GRCm39) |
P650S |
probably damaging |
Het |
Celsr2 |
G |
T |
3: 108,307,311 (GRCm39) |
S1933Y |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,764,709 (GRCm39) |
H562Q |
probably benign |
Het |
Cyp26a1 |
G |
T |
19: 37,689,630 (GRCm39) |
C442F |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,674,503 (GRCm39) |
S425G |
probably benign |
Het |
Espn |
C |
T |
4: 152,212,582 (GRCm39) |
V752M |
probably damaging |
Het |
Glyr1 |
A |
G |
16: 4,854,297 (GRCm39) |
S113P |
possibly damaging |
Het |
Grk4 |
A |
T |
5: 34,902,612 (GRCm39) |
Y388F |
probably benign |
Het |
H2-T15 |
C |
T |
17: 36,366,936 (GRCm39) |
C369Y |
probably benign |
Het |
Heca |
C |
A |
10: 17,778,044 (GRCm39) |
V518F |
probably damaging |
Het |
Hmcn2 |
C |
T |
2: 31,236,629 (GRCm39) |
P391S |
possibly damaging |
Het |
Hnrnpl |
A |
G |
7: 28,510,529 (GRCm39) |
|
probably benign |
Het |
Hsd3b2 |
A |
G |
3: 98,619,208 (GRCm39) |
S246P |
possibly damaging |
Het |
Ifna11 |
C |
T |
4: 88,738,380 (GRCm39) |
P62L |
probably damaging |
Het |
Katnal2 |
A |
T |
18: 77,090,131 (GRCm39) |
V292D |
probably damaging |
Het |
Krt16 |
T |
A |
11: 100,137,593 (GRCm39) |
I371F |
probably damaging |
Het |
Ly6g2 |
A |
T |
15: 75,089,669 (GRCm39) |
E59V |
probably damaging |
Het |
Map10 |
A |
T |
8: 126,397,724 (GRCm39) |
L372F |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,324,219 (GRCm39) |
M87L |
probably damaging |
Het |
Ncoa6 |
T |
C |
2: 155,249,701 (GRCm39) |
H1201R |
possibly damaging |
Het |
Ndc80 |
C |
A |
17: 71,821,226 (GRCm39) |
D241Y |
probably damaging |
Het |
Ndufs1 |
T |
C |
1: 63,205,508 (GRCm39) |
M94V |
possibly damaging |
Het |
Nkx2-6 |
G |
T |
14: 69,412,195 (GRCm39) |
R121L |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or6a2 |
A |
G |
7: 106,600,842 (GRCm39) |
V75A |
probably damaging |
Het |
Otop1 |
A |
G |
5: 38,455,328 (GRCm39) |
I241V |
probably benign |
Het |
Panx2 |
C |
A |
15: 88,953,135 (GRCm39) |
P542H |
possibly damaging |
Het |
Pcdha5 |
C |
A |
18: 37,095,510 (GRCm39) |
P673Q |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
Prdx6 |
A |
T |
1: 161,071,860 (GRCm39) |
I102N |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,262,140 (GRCm39) |
I725F |
possibly damaging |
Het |
Selenon |
T |
C |
4: 134,269,749 (GRCm39) |
N395S |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,533,616 (GRCm39) |
E224K |
probably benign |
Het |
Serpinb9b |
A |
G |
13: 33,213,496 (GRCm39) |
M18V |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,335,400 (GRCm39) |
E318G |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,294,549 (GRCm39) |
Y786N |
probably damaging |
Het |
Stpg1 |
T |
A |
4: 135,252,786 (GRCm39) |
L179Q |
possibly damaging |
Het |
Stra8 |
G |
A |
6: 34,907,885 (GRCm39) |
M1I |
probably null |
Het |
Tiam1 |
G |
T |
16: 89,681,753 (GRCm39) |
H408Q |
possibly damaging |
Het |
Tm2d1 |
G |
A |
4: 98,253,855 (GRCm39) |
T106I |
probably damaging |
Het |
Tmem150b |
A |
C |
7: 4,719,368 (GRCm39) |
I184S |
probably null |
Het |
Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,533,531 (GRCm39) |
A868T |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,341,620 (GRCm39) |
D1216N |
probably null |
Het |
Zfp26 |
T |
C |
9: 20,349,535 (GRCm39) |
Y343C |
possibly damaging |
Het |
Zfp276 |
A |
T |
8: 123,982,520 (GRCm39) |
I95F |
probably damaging |
Het |
Zfp330 |
T |
C |
8: 83,490,865 (GRCm39) |
E315G |
probably benign |
Het |
Zfp683 |
C |
A |
4: 133,781,862 (GRCm39) |
P56Q |
probably damaging |
Het |
Zpld1 |
T |
A |
16: 55,052,646 (GRCm39) |
S323C |
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 |
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 |
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 |
|
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'- AGGCCATAGAGAACGGTGAAGTT -3'
(R):5'- TTAGTTCCAAAGGCCCAGC -3'
Sequencing Primer
(F):5'- CGGTGAAGTTCTAGAAGAGAAGG -3'
(R):5'- AAGCCCCAGTCTCCAGCTC -3'
|
Posted On |
2016-09-01 |