Incidental Mutation 'R7408:Stk36'
| ID |
574823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
045489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7408 (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 74672725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 989
(F989Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087183
AA Change: F991Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: F991Y
| 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: F863Y
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: F863Y
| 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: F989Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: F989Y
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (71/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,860,030 (GRCm39) |
F299S |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,157,220 (GRCm39) |
E72D |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,391 (GRCm39) |
Q1654K |
unknown |
Het |
| Atp6v1f |
A |
C |
6: 29,470,194 (GRCm39) |
H96P |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,887,960 (GRCm39) |
V161A |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,796,610 (GRCm39) |
C320S |
probably damaging |
Het |
| Cgn |
T |
A |
3: 94,670,362 (GRCm39) |
K1031* |
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,460,894 (GRCm39) |
N92S |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,060,593 (GRCm39) |
V43A |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,739 (GRCm39) |
L547P |
probably damaging |
Het |
| Dennd1a |
G |
A |
2: 37,742,184 (GRCm39) |
|
probably null |
Het |
| Dtnb |
T |
A |
12: 3,694,272 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,727,309 (GRCm39) |
N486D |
possibly damaging |
Het |
| Fes |
G |
A |
7: 80,028,410 (GRCm39) |
R736C |
probably damaging |
Het |
| Galr1 |
T |
G |
18: 82,411,990 (GRCm39) |
Y292S |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,405,988 (GRCm39) |
D80V |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,377,054 (GRCm39) |
C56R |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,718,909 (GRCm39) |
T313A |
probably damaging |
Het |
| Gpaa1 |
A |
T |
15: 76,217,193 (GRCm39) |
D236V |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,676,315 (GRCm39) |
S43P |
probably benign |
Het |
| Gsdmd |
A |
G |
15: 75,738,202 (GRCm39) |
E295G |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,409,534 (GRCm39) |
K96R |
probably benign |
Het |
| Insm1 |
T |
A |
2: 146,064,711 (GRCm39) |
F176I |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,117 (GRCm39) |
E36G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,032,379 (GRCm39) |
V409A |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,073 (GRCm39) |
I925V |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,185 (GRCm39) |
S413P |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,118,389 (GRCm39) |
S205P |
probably damaging |
Het |
| Lrch3 |
C |
A |
16: 32,807,113 (GRCm39) |
S462* |
probably null |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,688 (GRCm39) |
I205V |
possibly damaging |
Het |
| Mark3 |
T |
G |
12: 111,600,223 (GRCm39) |
N479K |
probably damaging |
Het |
| Mrpl19 |
C |
T |
6: 81,942,793 (GRCm39) |
G39D |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,582,382 (GRCm39) |
Y497H |
probably benign |
Het |
| Msl2 |
T |
A |
9: 100,979,316 (GRCm39) |
D563E |
probably benign |
Het |
| Mta1 |
G |
A |
12: 113,095,088 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,529,272 (GRCm39) |
Q1401L |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,853,135 (GRCm39) |
L867P |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,652,013 (GRCm39) |
D200G |
unknown |
Het |
| Nos1 |
A |
C |
5: 118,005,583 (GRCm39) |
E101A |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,760,398 (GRCm39) |
I358T |
probably benign |
Het |
| Or11h6 |
A |
G |
14: 50,879,852 (GRCm39) |
E32G |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,546,859 (GRCm39) |
M263I |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,274 (GRCm39) |
S265P |
probably benign |
Het |
| Or4b1 |
T |
A |
2: 89,980,188 (GRCm39) |
H54L |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,493 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,222 (GRCm39) |
D948G |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,755,218 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,079,537 (GRCm39) |
Y540N |
possibly damaging |
Het |
| Pkp4 |
T |
C |
2: 59,142,110 (GRCm39) |
L471P |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,977,143 (GRCm39) |
M109K |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,318,418 (GRCm39) |
N68S |
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,321,189 (GRCm39) |
D282V |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,040,944 (GRCm39) |
Y407H |
probably benign |
Het |
| Rab3ip |
T |
C |
10: 116,773,546 (GRCm39) |
D89G |
possibly damaging |
Het |
| Rad17 |
G |
A |
13: 100,766,019 (GRCm39) |
Q370* |
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,277 (GRCm39) |
C751R |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,844,356 (GRCm39) |
T60A |
probably damaging |
Het |
| Socs4 |
A |
G |
14: 47,527,296 (GRCm39) |
H77R |
probably benign |
Het |
| Srrm3 |
T |
A |
5: 135,881,060 (GRCm39) |
M120K |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,028,453 (GRCm39) |
I344F |
probably benign |
Het |
| Toporsl |
A |
T |
4: 52,612,108 (GRCm39) |
Q667L |
probably benign |
Het |
| Tspan17 |
T |
C |
13: 54,937,466 (GRCm39) |
F20S |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,711,359 (GRCm39) |
Q65* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,465,726 (GRCm39) |
I2765F |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,800,264 (GRCm39) |
V1954A |
|
Het |
| Xrn2 |
T |
A |
2: 146,884,017 (GRCm39) |
|
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably 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 |
|
|
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'- CCTAAGAGTTGCTGAGATTGGG -3'
(R):5'- CTGCCTCCAAAGATCCAAGGTC -3'
Sequencing Primer
(F):5'- CTGAGATTGGGAAAGTGGAGCTTC -3'
(R):5'- AGTGTAGGGCAGTAATTCCTGAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation