Incidental Mutation 'R5266:Stk36'
| ID |
401683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
042858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74650317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
[ENSMUST00000189830]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087183
AA Change: V283A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: V283A
| 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
AA Change: V283A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: V283A
| 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: ENSMUST00000145673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148456
AA Change: V283A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: V283A
| 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 |
probably benign
Transcript: ENSMUST00000189830
|
| SMART Domains |
Protein: ENSMUSP00000140912
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
56 |
8.1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
97% (56/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
| Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
| Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,731,207 (GRCm39) |
N198D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
| Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
| Map3k11 |
T |
A |
19: 5,750,622 (GRCm39) |
N613K |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
| Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
| Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tead1 |
A |
G |
7: 112,358,673 (GRCm39) |
|
probably benign |
Het |
| Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,779,303 (GRCm39) |
C404Y |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
| Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
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 |
|
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 |
|
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'- AATGGCCTCTTCCTACGGAG -3'
(R):5'- TCGGAGACAAGAGAACTATTTGTGC -3'
Sequencing Primer
(F):5'- TCTTCCTACGGAGGCCTAGAG -3'
(R):5'- TGCTAATTCCCTAAAAGTTGCATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation