Incidental Mutation 'R2159:Stk36'
ID |
235021 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk36
|
Ensembl Gene |
ENSMUSG00000033276 |
Gene Name |
serine/threonine kinase 36 |
Synonyms |
1700112N14Rik, Fused |
MMRRC Submission |
040162-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2159 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74673896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 1263
(Q1263R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
|
AlphaFold |
Q69ZM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087183
AA Change: Q1263R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084430 Gene: ENSMUSG00000033276 AA Change: Q1263R
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: Q1135R
|
SMART Domains |
Protein: ENSMUSP00000084433 Gene: ENSMUSG00000033276 AA Change: Q1135R
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
|
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: ENSMUST00000155473
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
G |
A |
12: 81,607,241 (GRCm39) |
P174S |
probably benign |
Het |
Aida |
C |
T |
1: 183,103,234 (GRCm39) |
P185S |
probably benign |
Het |
Alg11 |
T |
G |
8: 22,555,861 (GRCm39) |
I374R |
probably benign |
Het |
Ano9 |
T |
C |
7: 140,688,030 (GRCm39) |
I229V |
probably benign |
Het |
Apob |
A |
T |
12: 8,060,081 (GRCm39) |
L2821F |
probably benign |
Het |
Atp10b |
C |
T |
11: 43,042,680 (GRCm39) |
T80I |
possibly damaging |
Het |
BC024139 |
T |
C |
15: 76,005,688 (GRCm39) |
H478R |
probably damaging |
Het |
Btbd1 |
A |
T |
7: 81,450,804 (GRCm39) |
D325E |
possibly damaging |
Het |
Camk2a |
G |
A |
18: 61,090,257 (GRCm39) |
C199Y |
probably damaging |
Het |
Casp3 |
A |
G |
8: 47,087,323 (GRCm39) |
D90G |
probably damaging |
Het |
Ccnt2 |
A |
G |
1: 127,702,891 (GRCm39) |
H71R |
probably benign |
Het |
Cdk2ap1 |
G |
A |
5: 124,486,667 (GRCm39) |
R65* |
probably null |
Het |
Cebpb |
G |
T |
2: 167,531,173 (GRCm39) |
A78S |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,682,606 (GRCm39) |
F1613L |
unknown |
Het |
Cpd |
T |
C |
11: 76,688,467 (GRCm39) |
D935G |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cwc27 |
A |
G |
13: 104,940,837 (GRCm39) |
I174T |
probably damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,021,378 (GRCm39) |
R331L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,252,691 (GRCm39) |
T795A |
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,181,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
Gp2 |
T |
C |
7: 119,051,507 (GRCm39) |
D236G |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gzmd |
T |
A |
14: 56,368,153 (GRCm39) |
H102L |
probably damaging |
Het |
Klk1b1 |
A |
T |
7: 43,619,857 (GRCm39) |
I139F |
probably damaging |
Het |
Lcmt2 |
G |
A |
2: 120,969,766 (GRCm39) |
P439L |
probably damaging |
Het |
Loxl4 |
C |
T |
19: 42,588,446 (GRCm39) |
A570T |
probably damaging |
Het |
Mga |
T |
A |
2: 119,750,124 (GRCm39) |
H674Q |
probably damaging |
Het |
Mybpc3 |
A |
T |
2: 90,955,715 (GRCm39) |
K583M |
probably damaging |
Het |
Ncoa6 |
G |
T |
2: 155,249,633 (GRCm39) |
P1224T |
probably damaging |
Het |
Nostrin |
A |
G |
2: 69,011,266 (GRCm39) |
|
probably null |
Het |
Or13e8 |
T |
C |
4: 43,697,110 (GRCm39) |
H21R |
probably benign |
Het |
Or4c3 |
A |
T |
2: 89,851,882 (GRCm39) |
V176E |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,133,880 (GRCm39) |
D58E |
possibly damaging |
Het |
Parm1 |
A |
G |
5: 91,760,923 (GRCm39) |
Y265C |
probably damaging |
Het |
Phf10 |
C |
T |
17: 15,172,926 (GRCm39) |
E304K |
probably damaging |
Het |
Prmt5 |
T |
C |
14: 54,752,795 (GRCm39) |
T139A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptp4a3 |
A |
G |
15: 73,623,865 (GRCm39) |
T32A |
probably benign |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rad51ap2 |
T |
C |
12: 11,507,752 (GRCm39) |
L558S |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,005,225 (GRCm39) |
D80G |
probably damaging |
Het |
Sec24a |
T |
G |
11: 51,603,177 (GRCm39) |
H757P |
probably damaging |
Het |
Sema4d |
T |
C |
13: 51,874,571 (GRCm39) |
N129D |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,531,251 (GRCm39) |
T323A |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,661 (GRCm39) |
R504H |
possibly damaging |
Het |
Sftpb |
T |
C |
6: 72,286,770 (GRCm39) |
C226R |
probably damaging |
Het |
Sp8 |
T |
C |
12: 118,812,441 (GRCm39) |
S99P |
possibly damaging |
Het |
Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,267,156 (GRCm39) |
Y365H |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Troap |
G |
T |
15: 98,975,467 (GRCm39) |
A184S |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,729,671 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
C |
A |
17: 20,689,363 (GRCm39) |
A531S |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,239,340 (GRCm39) |
I408F |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,950,169 (GRCm39) |
E226V |
probably benign |
Het |
Vmo1 |
A |
G |
11: 70,404,608 (GRCm39) |
F131S |
probably benign |
Het |
Vwf |
T |
C |
6: 125,603,304 (GRCm39) |
F885L |
probably damaging |
Het |
Wdpcp |
A |
T |
11: 21,807,476 (GRCm39) |
M618L |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,070,715 (GRCm39) |
E1072G |
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 |
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 |
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'- GAGATGCTCAGGATGGGATC -3'
(R):5'- AGTTATGACTCCGGGTCTCAG -3'
Sequencing Primer
(F):5'- ATGGGATCCGGCGCAATG -3'
(R):5'- TCTCTAGGATTAGGAAACCCATCTC -3'
|
Posted On |
2014-10-01 |