Incidental Mutation 'R7064:Stk36'
| ID |
548423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
045160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74649979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 245
(W245R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
[ENSMUST00000189830]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087183
AA Change: W245R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: W245R
| 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: W245R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: W245R
| 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: ENSMUST00000148456
AA Change: W245R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: W245R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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 |
|---|
| Aadat |
T |
C |
8: 60,984,746 (GRCm39) |
I263T |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,278 (GRCm39) |
P830S |
possibly damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,456 (GRCm39) |
F218S |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,746,919 (GRCm39) |
|
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,986 (GRCm39) |
V244E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,419,181 (GRCm39) |
E757G |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,685,865 (GRCm39) |
D147G |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,810,134 (GRCm39) |
M92L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,791,983 (GRCm39) |
D2458G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,250,772 (GRCm39) |
I259V |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,077,218 (GRCm39) |
V250A |
probably benign |
Het |
| Cxxc1 |
T |
A |
18: 74,353,678 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
A |
T |
7: 26,011,732 (GRCm39) |
M318L |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,412,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Decr1 |
C |
A |
4: 15,945,392 (GRCm39) |
|
|
Het |
| Dmbx1 |
T |
C |
4: 115,775,465 (GRCm39) |
N272D |
probably damaging |
Het |
| Dsel |
C |
A |
1: 111,790,577 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,804 (GRCm39) |
D389A |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,544,049 (GRCm39) |
T52A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,839,557 (GRCm39) |
E2229G |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,472,803 (GRCm39) |
V127M |
probably damaging |
Het |
| Gpc2 |
A |
T |
5: 138,277,172 (GRCm39) |
F85Y |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,764 (GRCm39) |
L793S |
probably benign |
Het |
| Irag1 |
C |
G |
7: 110,495,061 (GRCm39) |
E455Q |
probably damaging |
Het |
| Itpr3 |
G |
C |
17: 27,308,269 (GRCm39) |
G298R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,038,261 (GRCm39) |
C1024S |
probably damaging |
Het |
| Krt40 |
T |
C |
11: 99,430,954 (GRCm39) |
Y185C |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,121,615 (GRCm39) |
D227N |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,965,524 (GRCm39) |
L1184* |
probably null |
Het |
| Or10s1 |
T |
A |
9: 39,986,109 (GRCm39) |
Y173N |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,634 (GRCm39) |
R227W |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,759,853 (GRCm39) |
M269L |
probably benign |
Het |
| Parp9 |
T |
G |
16: 35,774,042 (GRCm39) |
V338G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,446 (GRCm39) |
E888K |
possibly damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,585 (GRCm39) |
E862K |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,608,317 (GRCm39) |
T3040A |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,617,464 (GRCm39) |
E1026G |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,580 (GRCm39) |
R282* |
probably null |
Het |
| Rpgrip1l |
T |
A |
8: 91,990,148 (GRCm39) |
K765* |
probably null |
Het |
| Rprd2 |
G |
A |
3: 95,672,328 (GRCm39) |
T1025M |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,212,983 (GRCm39) |
Y1341H |
possibly damaging |
Het |
| Scn5a |
C |
G |
9: 119,318,977 (GRCm39) |
D1554H |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,870 (GRCm39) |
I102V |
probably benign |
Het |
| Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,925,834 (GRCm39) |
G291R |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,720 (GRCm39) |
V418A |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,076,078 (GRCm39) |
T24A |
possibly damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,955 (GRCm39) |
S368P |
probably benign |
Het |
| Stip1 |
T |
C |
19: 7,012,925 (GRCm39) |
D53G |
probably benign |
Het |
| Stk39 |
A |
T |
2: 68,189,156 (GRCm39) |
|
probably null |
Het |
| Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,194,288 (GRCm39) |
P1163S |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,186 (GRCm39) |
N263K |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,883,995 (GRCm39) |
M333V |
probably benign |
Het |
| Tmem45a |
T |
C |
16: 56,642,767 (GRCm39) |
M135V |
probably benign |
Het |
| Trmt13 |
T |
A |
3: 116,376,346 (GRCm39) |
K348N |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,070,868 (GRCm39) |
M534L |
probably damaging |
Het |
| Ttll13 |
G |
A |
7: 79,906,778 (GRCm39) |
R513K |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
| Washc3 |
T |
C |
10: 88,081,635 (GRCm39) |
V173A |
possibly damaging |
Het |
| Zc2hc1b |
A |
T |
10: 13,047,049 (GRCm39) |
C21S |
probably damaging |
Het |
| Zfp944 |
T |
A |
17: 22,558,560 (GRCm39) |
H229L |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,573 (GRCm39) |
I147N |
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 |
|
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 |
|
|
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'- TCCTAAGGGAAGCGTTGTTAAG -3'
(R):5'- CTACTTGGCAAGGGACACATC -3'
Sequencing Primer
(F):5'- AAGGTTGTATTTGGGCTGCATTAAG -3'
(R):5'- CACATCAGTGGCTCTAGGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation