Incidental Mutation 'R7471:Stk36'
| ID |
579166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
045545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74673479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 996
(N996S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087183
AA Change: N1124S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: N1124S
| 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: N996S
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: N996S
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0698 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,168,608 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
C |
11: 105,864,308 (GRCm39) |
V483A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,133,751 (GRCm39) |
T358S |
possibly damaging |
Het |
| Apoh |
C |
T |
11: 108,298,131 (GRCm39) |
P144S |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,408,355 (GRCm39) |
W1666R |
unknown |
Het |
| Asap3 |
A |
G |
4: 135,960,957 (GRCm39) |
H223R |
possibly damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,645,977 (GRCm39) |
S81P |
possibly damaging |
Het |
| Brd10 |
A |
C |
19: 29,707,139 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
G |
4: 104,674,822 (GRCm39) |
S550P |
probably benign |
Het |
| Cacna2d1 |
C |
G |
5: 16,139,973 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
A |
G |
10: 4,470,803 (GRCm39) |
T216A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,859,197 (GRCm39) |
K2429I |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,441,569 (GRCm39) |
N2181S |
probably benign |
Het |
| Cimap1c |
C |
T |
9: 56,759,783 (GRCm39) |
|
probably null |
Het |
| Clip3 |
T |
C |
7: 30,001,377 (GRCm39) |
V342A |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Cyp20a1 |
T |
C |
1: 60,393,799 (GRCm39) |
F139S |
probably damaging |
Het |
| Dclre1b |
T |
A |
3: 103,710,430 (GRCm39) |
R494W |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,660,969 (GRCm39) |
I1695T |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,858 (GRCm39) |
L3760P |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,765,072 (GRCm39) |
D1688G |
possibly damaging |
Het |
| Drosha |
G |
A |
15: 12,889,742 (GRCm39) |
R870Q |
probably damaging |
Het |
| Dsg2 |
G |
T |
18: 20,713,675 (GRCm39) |
M215I |
probably benign |
Het |
| Dst |
A |
T |
1: 34,233,651 (GRCm39) |
D3453V |
possibly damaging |
Het |
| Epha10 |
A |
T |
4: 124,796,365 (GRCm39) |
Y358F |
|
Het |
| Ermp1 |
A |
T |
19: 29,590,054 (GRCm39) |
M853K |
probably benign |
Het |
| Hace1 |
T |
G |
10: 45,577,075 (GRCm39) |
I823S |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,853,785 (GRCm39) |
Y227F |
probably benign |
Het |
| Hells |
A |
G |
19: 38,945,501 (GRCm39) |
N580S |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,718 (GRCm39) |
F82L |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,623,122 (GRCm39) |
D405G |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,758,198 (GRCm39) |
R1508H |
probably benign |
Het |
| Limk1 |
A |
T |
5: 134,686,825 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
T |
A |
9: 56,528,167 (GRCm39) |
K147* |
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,194,787 (GRCm39) |
S1371G |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,307 (GRCm39) |
D298G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,366,082 (GRCm39) |
V2893E |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,219,489 (GRCm39) |
D114G |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,540,729 (GRCm39) |
W6R |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,431 (GRCm39) |
L97P |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,697,417 (GRCm39) |
F36I |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,260,204 (GRCm39) |
S253N |
probably damaging |
Het |
| Nmnat1 |
T |
A |
4: 149,557,758 (GRCm39) |
T95S |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,073,985 (GRCm39) |
I298N |
probably damaging |
Het |
| Or51a8 |
A |
G |
7: 102,549,760 (GRCm39) |
Y62C |
probably benign |
Het |
| Or56b35 |
T |
G |
7: 104,963,712 (GRCm39) |
L167R |
probably damaging |
Het |
| Or8g37 |
A |
T |
9: 39,731,423 (GRCm39) |
M163L |
probably benign |
Het |
| Polr2b |
C |
T |
5: 77,468,913 (GRCm39) |
R230* |
probably null |
Het |
| Prkra |
T |
A |
2: 76,477,545 (GRCm39) |
E53D |
probably benign |
Het |
| Rasgrp4 |
T |
A |
7: 28,845,405 (GRCm39) |
L376Q |
probably damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,964,961 (GRCm39) |
S65P |
probably benign |
Het |
| Satb1 |
G |
A |
17: 52,090,029 (GRCm39) |
P273S |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,589,374 (GRCm39) |
E93G |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,117,724 (GRCm39) |
F162S |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,250,701 (GRCm39) |
Y377H |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,108,439 (GRCm39) |
A661V |
possibly damaging |
Het |
| Tbca |
A |
T |
13: 94,968,923 (GRCm39) |
I37F |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,672,716 (GRCm39) |
V75E |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,333,263 (GRCm39) |
S243C |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,964,438 (GRCm39) |
D911G |
probably damaging |
Het |
| Tmbim6 |
A |
G |
15: 99,299,324 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,708 (GRCm39) |
D81E |
probably benign |
Het |
| Ttpal |
T |
A |
2: 163,448,945 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
T |
1: 74,534,787 (GRCm39) |
|
probably null |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,658 (GRCm39) |
I328V |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,850 (GRCm39) |
L231* |
probably null |
Het |
| Xirp1 |
G |
A |
9: 119,848,176 (GRCm39) |
Q236* |
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,664,682 (GRCm39) |
T514A |
probably damaging |
Het |
| Zfp524 |
A |
G |
7: 5,021,200 (GRCm39) |
I243V |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,542 (GRCm39) |
Y467N |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,388 (GRCm39) |
K85N |
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 |
|
|
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 |
|
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'- TGTTGTTCTCCTGAGTGACC -3'
(R):5'- TCCAAGCAGCTGGGTCATAC -3'
Sequencing Primer
(F):5'- GAGTGACCAGCCCCTCATGATC -3'
(R):5'- TCATACTGGGCACTGCAGCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation