Incidental Mutation 'R8104:Stk36'
| ID |
630625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
067535-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8104 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74665756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 700
(S700T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087183
AA Change: S700T
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: S700T
| 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: S572T
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: S572T
| 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
AA Change: S700T
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: S700T
| 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 |
0.0693 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.6%
- 20x: 94.6%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
C |
A |
17: 57,152,443 (GRCm39) |
L666F |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Apoc3 |
T |
G |
9: 46,144,585 (GRCm39) |
D79A |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,621,022 (GRCm39) |
|
probably null |
Het |
| Ascc1 |
T |
C |
10: 59,843,551 (GRCm39) |
S38P |
probably benign |
Het |
| Asl |
C |
T |
5: 130,040,791 (GRCm39) |
E389K |
probably benign |
Het |
| Atat1 |
A |
T |
17: 36,215,008 (GRCm39) |
I215K |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,991,075 (GRCm39) |
L160* |
probably null |
Het |
| Cbl |
C |
A |
9: 44,069,836 (GRCm39) |
S637I |
possibly damaging |
Het |
| Ccdc112 |
A |
C |
18: 46,420,720 (GRCm39) |
S343R |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,925 (GRCm39) |
S250P |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,263 (GRCm39) |
F770I |
|
Het |
| Dlgap3 |
A |
G |
4: 127,129,947 (GRCm39) |
E907G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,352,600 (GRCm39) |
E159D |
probably benign |
Het |
| Ech1 |
G |
A |
7: 28,524,728 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,971,485 (GRCm39) |
N710K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,155,357 (GRCm39) |
|
probably null |
Het |
| Gm4871 |
G |
C |
5: 144,969,012 (GRCm39) |
D100E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,687,619 (GRCm39) |
I388T |
probably damaging |
Het |
| Ing5 |
T |
A |
1: 93,744,166 (GRCm39) |
N184K |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,145 (GRCm39) |
L24* |
probably null |
Het |
| Lig1 |
T |
C |
7: 13,020,491 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,255,794 (GRCm39) |
Y488H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,358,520 (GRCm39) |
Y1240C |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,828 (GRCm39) |
T1458A |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,527,778 (GRCm39) |
E472G |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,391,685 (GRCm39) |
H664L |
possibly damaging |
Het |
| Ntrk3 |
A |
G |
7: 78,227,450 (GRCm39) |
S28P |
probably damaging |
Het |
| Or14a257 |
A |
G |
7: 86,138,231 (GRCm39) |
F176S |
probably damaging |
Het |
| Or1i2 |
C |
T |
10: 78,448,242 (GRCm39) |
V78I |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,390,338 (GRCm39) |
|
probably benign |
Het |
| Or2ag17 |
C |
A |
7: 106,390,337 (GRCm39) |
|
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,826 (GRCm39) |
M140K |
probably benign |
Het |
| Pcdha4 |
G |
T |
18: 37,087,106 (GRCm39) |
G430W |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,030,385 (GRCm39) |
Y1114* |
probably null |
Het |
| Pde6a |
T |
A |
18: 61,364,566 (GRCm39) |
D207E |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,902,326 (GRCm39) |
I540N |
|
Het |
| Pnp2 |
A |
T |
14: 51,197,099 (GRCm39) |
I62F |
probably benign |
Het |
| Rarg |
C |
A |
15: 102,148,334 (GRCm39) |
D258Y |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,643,484 (GRCm39) |
M262K |
unknown |
Het |
| Scaf11 |
T |
C |
15: 96,316,483 (GRCm39) |
D1027G |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,079,110 (GRCm39) |
|
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,744,297 (GRCm39) |
|
probably null |
Het |
| Slc44a3 |
A |
C |
3: 121,291,521 (GRCm39) |
V365G |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,904,754 (GRCm39) |
F26L |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,757,809 (GRCm39) |
I116K |
probably damaging |
Het |
| Tekt3 |
A |
G |
11: 62,968,945 (GRCm39) |
D224G |
probably benign |
Het |
| Tgtp1 |
A |
T |
11: 48,877,841 (GRCm39) |
I288N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,710,567 (GRCm39) |
V8485M |
unknown |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,306,280 (GRCm39) |
I79K |
probably damaging |
Het |
| Utp20 |
C |
T |
10: 88,593,766 (GRCm39) |
D2215N |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,923,350 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,630,301 (GRCm39) |
D170G |
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 |
|
|
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 |
|
|
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'- TGAGATTCCTAGCGAACCCAAAA -3'
(R):5'- AGAGCTGGAGTCCACACAT -3'
Sequencing Primer
(F):5'- AAGGGCCAGCACAAATCTG -3'
(R):5'- GGTGGCCCAGAACTCACTATATAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation