Incidental Mutation 'R8019:Stk36'
| ID |
617242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74651925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 406
(V406A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
[ENSMUST00000189830]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087183
AA Change: V406A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: V406A
| 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
AA Change: V406A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: V406A
| 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: V406A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: V406A
| 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 |
probably benign
Transcript: ENSMUST00000189830
|
| SMART Domains |
Protein: ENSMUSP00000140912
Gene: ENSMUSG00000033276
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
56 |
8.1e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110065P20Rik |
G |
T |
4: 124,744,469 (GRCm39) |
A51E |
unknown |
Het |
| A2ml1 |
C |
T |
6: 128,558,410 (GRCm39) |
|
probably null |
Het |
| Aimp2 |
G |
A |
5: 143,846,412 (GRCm39) |
A41V |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Bnc2 |
A |
G |
4: 84,329,662 (GRCm39) |
L118P |
|
Het |
| Ccdc18 |
T |
A |
5: 108,376,511 (GRCm39) |
Y1317* |
probably null |
Het |
| Ccdc93 |
C |
T |
1: 121,375,993 (GRCm39) |
T168M |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,614,828 (GRCm39) |
D1292Y |
possibly damaging |
Het |
| Cdh24 |
G |
T |
14: 54,876,089 (GRCm39) |
N184K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,157 (GRCm39) |
S734R |
|
Het |
| Efemp2 |
T |
A |
19: 5,527,708 (GRCm39) |
C181* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,734,174 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,739,920 (GRCm39) |
V49M |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,284,752 (GRCm39) |
C611Y |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
T |
G |
14: 118,504,951 (GRCm39) |
Y128D |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,762 (GRCm39) |
N278I |
probably benign |
Het |
| Hace1 |
C |
T |
10: 45,514,478 (GRCm39) |
T199M |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,321,098 (GRCm39) |
V44A |
|
Het |
| Homez |
A |
C |
14: 55,095,689 (GRCm39) |
D6E |
probably benign |
Het |
| Ighv5-12 |
A |
T |
12: 113,665,792 (GRCm39) |
M102K |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,265,023 (GRCm39) |
T643A |
probably benign |
Het |
| Kif17 |
G |
A |
4: 138,023,536 (GRCm39) |
R927Q |
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,828,722 (GRCm39) |
I381F |
probably damaging |
Het |
| Krt6a |
A |
G |
15: 101,602,304 (GRCm39) |
V127A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mtfr2 |
A |
T |
10: 20,229,900 (GRCm39) |
N153Y |
probably damaging |
Het |
| Npas3 |
G |
A |
12: 54,091,462 (GRCm39) |
V339I |
probably damaging |
Het |
| Nsun2 |
C |
T |
13: 69,775,764 (GRCm39) |
R438C |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,762,107 (GRCm39) |
W249R |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,595 (GRCm39) |
I114F |
possibly damaging |
Het |
| Or4k47 |
A |
C |
2: 111,452,412 (GRCm39) |
D2E |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,577,392 (GRCm39) |
M284K |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,122 (GRCm39) |
R2338G |
probably damaging |
Het |
| Pgm1 |
A |
G |
4: 99,843,875 (GRCm39) |
M553V |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,703 (GRCm39) |
I340T |
probably damaging |
Het |
| Qprt |
C |
A |
7: 126,707,996 (GRCm39) |
R145L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,528,829 (GRCm39) |
D329G |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,431,255 (GRCm39) |
T583M |
|
Het |
| Slc12a7 |
T |
C |
13: 73,947,839 (GRCm39) |
I652T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,723,329 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,055,095 (GRCm39) |
I320T |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,466,917 (GRCm39) |
Y524H |
probably damaging |
Het |
| Slc6a20a |
T |
A |
9: 123,493,639 (GRCm39) |
S81C |
probably damaging |
Het |
| Srf |
G |
T |
17: 46,866,748 (GRCm39) |
P3T |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,299,465 (GRCm39) |
M828T |
possibly damaging |
Het |
| Svep1 |
G |
T |
4: 58,146,637 (GRCm39) |
P335Q |
probably damaging |
Het |
| Svs5 |
T |
A |
2: 164,175,341 (GRCm39) |
S64R |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,928,013 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tbrg4 |
C |
T |
11: 6,568,517 (GRCm39) |
V421M |
probably damaging |
Het |
| Tbx4 |
G |
T |
11: 85,804,986 (GRCm39) |
K358N |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,353,248 (GRCm39) |
T384S |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,248 (GRCm39) |
H261Q |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,095 (GRCm39) |
C372* |
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 |
|
|
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 |
|
|
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'- TATGACTGGTTCCTCTAGGCCC -3'
(R):5'- CATCTACCTTAGAACCTCTGATTTTGG -3'
Sequencing Primer
(F):5'- CTTTCCTGAGCCTGGAGGGAG -3'
(R):5'- CAAATTTCTGGGTTCAAGGCCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation