Incidental Mutation 'R6805:Stk36'
| ID |
533510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
044918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6805 (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 C
at 74661398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 475
(V475A)
|
| 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: V475A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: V475A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000084433
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
|
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: V475A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: V475A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,946,744 (GRCm39) |
T214A |
possibly damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Aadac |
A |
C |
3: 59,944,757 (GRCm39) |
D143A |
probably benign |
Het |
| Acot10 |
T |
G |
15: 20,665,452 (GRCm39) |
T430P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,253 (GRCm39) |
T197A |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,950,643 (GRCm39) |
I200T |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,467,103 (GRCm38) |
A943V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,838,673 (GRCm39) |
E48G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,724,428 (GRCm39) |
C211S |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,890,073 (GRCm39) |
L1429P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,790 (GRCm39) |
V2591A |
probably benign |
Het |
| Cul2 |
T |
G |
18: 3,421,263 (GRCm39) |
Y196D |
probably damaging |
Het |
| D630023F18Rik |
T |
C |
1: 65,156,365 (GRCm39) |
S43G |
probably benign |
Het |
| Ddx39a |
G |
A |
8: 84,449,766 (GRCm39) |
R427Q |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,691 (GRCm39) |
T285A |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,789 (GRCm39) |
D88E |
probably benign |
Het |
| Defb6 |
A |
G |
8: 19,278,117 (GRCm39) |
K63R |
probably benign |
Het |
| Dnph1 |
T |
C |
17: 46,809,670 (GRCm39) |
S112P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,564,407 (GRCm39) |
I467L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,323,716 (GRCm39) |
H286Q |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,253,501 (GRCm39) |
T459S |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,719,049 (GRCm39) |
L385P |
probably damaging |
Het |
| Fbxw21 |
C |
A |
9: 108,986,633 (GRCm39) |
R82L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,437 (GRCm39) |
V2048A |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,925,311 (GRCm39) |
D864V |
possibly damaging |
Het |
| Gata6 |
T |
G |
18: 11,054,460 (GRCm39) |
S130A |
possibly damaging |
Het |
| Gbf1 |
G |
T |
19: 46,250,946 (GRCm39) |
R434L |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,476,588 (GRCm39) |
F709L |
probably damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,193 (GRCm39) |
V166A |
probably benign |
Het |
| Hexa |
T |
A |
9: 59,471,220 (GRCm39) |
N491K |
possibly damaging |
Het |
| Hpse2 |
A |
T |
19: 43,282,760 (GRCm39) |
C164* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,802,555 (GRCm39) |
Y93C |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,396,804 (GRCm39) |
K192E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,913,304 (GRCm39) |
I79N |
probably damaging |
Het |
| Jmjd7 |
T |
A |
2: 119,861,804 (GRCm39) |
Y182* |
probably null |
Het |
| Jup |
A |
T |
11: 100,274,284 (GRCm39) |
D135E |
probably benign |
Het |
| Kit |
T |
A |
5: 75,813,468 (GRCm39) |
I881N |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,593,691 (GRCm39) |
S55T |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,435,724 (GRCm39) |
M653I |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,711,517 (GRCm39) |
Y307H |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,622 (GRCm39) |
M1914K |
possibly damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,230,537 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,849 (GRCm39) |
S439P |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,262 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
G |
T |
9: 18,946,597 (GRCm39) |
M59I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,729,026 (GRCm39) |
|
probably null |
Het |
| Phf12 |
G |
A |
11: 77,918,199 (GRCm39) |
G804R |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,074 (GRCm39) |
T234A |
|
Het |
| Prune2 |
A |
T |
19: 17,097,954 (GRCm39) |
I1153L |
probably benign |
Het |
| Ptprc |
C |
T |
1: 137,995,623 (GRCm39) |
|
probably null |
Het |
| Qpctl |
T |
C |
7: 18,883,079 (GRCm39) |
Q11R |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,092 (GRCm39) |
K103E |
possibly damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,806 (GRCm39) |
|
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,659,770 (GRCm39) |
A181D |
probably damaging |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,571 (GRCm39) |
T263A |
possibly damaging |
Het |
| Tex24 |
A |
T |
8: 27,835,028 (GRCm39) |
K185N |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,917,127 (GRCm39) |
V2174E |
possibly damaging |
Het |
| Tollip |
A |
G |
7: 141,444,582 (GRCm39) |
S57P |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,370,585 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,580,650 (GRCm39) |
T30A |
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 |
|
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'- TCCATAGTTTTCTCTGGTGCAG -3'
(R):5'- ACCACCCCTTGTCTTCAGAG -3'
Sequencing Primer
(F):5'- CTGGTGCAGTTCCCCTGTG -3'
(R):5'- GGCTGCTGGGCTATATACC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation