Incidental Mutation 'R5533:Stk36'
| ID |
433728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
043091-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5533 (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 74665750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 698
(R698G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087183
AA Change: R698G
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: R698G
| 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: R570G
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: R570G
| 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 |
possibly damaging
Transcript: ENSMUST00000148456
AA Change: R698G
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: R698G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157007
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 88.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,307,405 (GRCm39) |
V1405D |
probably damaging |
Het |
| Akap7 |
C |
T |
10: 25,159,880 (GRCm39) |
D107N |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,269,952 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,026,113 (GRCm39) |
|
probably null |
Het |
| Ctsd |
T |
C |
7: 141,931,070 (GRCm39) |
Q274R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,453 (GRCm39) |
R1575Q |
probably damaging |
Het |
| Erich6b |
A |
T |
14: 75,896,274 (GRCm39) |
L53F |
possibly damaging |
Het |
| Exoc6 |
A |
C |
19: 37,582,218 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
A |
T |
9: 109,315,133 (GRCm39) |
V143E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,991,608 (GRCm39) |
F696S |
unknown |
Het |
| Foxa3 |
G |
T |
7: 18,748,940 (GRCm39) |
Y102* |
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,256,792 (GRCm39) |
M301T |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,197,119 (GRCm39) |
Q54* |
probably null |
Het |
| Glra1 |
T |
C |
11: 55,423,208 (GRCm39) |
E117G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,768,095 (GRCm39) |
D234V |
probably damaging |
Het |
| Golm2 |
AGATGGTGATGGTG |
AGATGGTG |
2: 121,756,178 (GRCm39) |
|
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,812,441 (GRCm39) |
I137T |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,165,161 (GRCm39) |
V816A |
possibly damaging |
Het |
| Kdm4c |
G |
A |
4: 74,233,886 (GRCm39) |
|
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,996 (GRCm39) |
|
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,219 (GRCm39) |
N378S |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,807,357 (GRCm39) |
L363P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,520,081 (GRCm39) |
Y745* |
probably null |
Het |
| Nav3 |
A |
C |
10: 109,719,539 (GRCm39) |
N141K |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,233,837 (GRCm39) |
N779S |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,398,079 (GRCm39) |
Y414* |
probably null |
Het |
| Nf1 |
T |
G |
11: 79,336,615 (GRCm39) |
C1065G |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,278,004 (GRCm39) |
V216A |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,907,379 (GRCm39) |
N354I |
possibly damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,726 (GRCm39) |
V436I |
probably benign |
Het |
| Or5m11b |
A |
G |
2: 85,805,797 (GRCm39) |
D70G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,065,469 (GRCm39) |
F313L |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,155,187 (GRCm39) |
M570K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,296 (GRCm39) |
S856G |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,794,855 (GRCm39) |
E368G |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,969 (GRCm39) |
V323M |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,552,504 (GRCm39) |
Y920C |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,264,200 (GRCm39) |
D229V |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,417 (GRCm39) |
K483R |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,735,155 (GRCm39) |
R351H |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,833,948 (GRCm39) |
T370I |
possibly damaging |
Het |
| Smpd5 |
T |
C |
15: 76,178,757 (GRCm39) |
S42P |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,173,025 (GRCm39) |
|
probably null |
Het |
| Sox10 |
G |
A |
15: 79,040,502 (GRCm39) |
S185L |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,817,163 (GRCm39) |
I290F |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,821,733 (GRCm39) |
Y227C |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,211,316 (GRCm39) |
|
probably null |
Het |
| Tas2r122 |
T |
A |
6: 132,688,393 (GRCm39) |
T167S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,656 (GRCm39) |
S865P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,038,227 (GRCm39) |
L1537P |
probably damaging |
Het |
| Vstm2a |
C |
A |
11: 16,213,125 (GRCm39) |
T170K |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,931,407 (GRCm39) |
F304I |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,796 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,440 (GRCm39) |
K103* |
probably null |
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 |
|
|
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'- CTTGAGATTCCTAGCGAACCCA -3'
(R):5'- AGAGCTGGAGTCCACACAT -3'
Sequencing Primer
(F):5'- TTGAGATTCCTAGCGAACCCAAAAAG -3'
(R):5'- GGTGGCCCAGAACTCACTATATAG -3'
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| Posted On |
2016-10-06 |
Incidental Mutation