Incidental Mutation 'R6208:Stk36'
| ID |
503238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
044342-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74650591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 327
(Q327L)
|
| 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: Q327L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: Q327L
| 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: Q327L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: Q327L
| 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: ENSMUST00000145673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148456
AA Change: Q327L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: Q327L
| 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 |
|
| Meta Mutation Damage Score |
0.1128 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| Actl6a |
A |
T |
3: 32,766,043 (GRCm39) |
I18F |
probably benign |
Het |
| Apol11a |
C |
T |
15: 77,401,241 (GRCm39) |
R243C |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,968,508 (GRCm39) |
M687V |
probably benign |
Het |
| Axdnd1 |
C |
T |
1: 156,220,426 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,755,150 (GRCm39) |
F1026S |
probably damaging |
Het |
| Bsg |
T |
C |
10: 79,544,672 (GRCm39) |
L70P |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,270,582 (GRCm39) |
N185D |
possibly damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,891 (GRCm39) |
N50I |
possibly damaging |
Het |
| Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
| Defa25 |
A |
G |
8: 21,575,197 (GRCm39) |
|
probably null |
Het |
| Emc1 |
G |
T |
4: 139,081,582 (GRCm39) |
R70L |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,650 (GRCm39) |
F3028S |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm20830 |
T |
G |
Y: 6,916,792 (GRCm39) |
E109A |
probably benign |
Homo |
| Grm1 |
A |
T |
10: 10,595,690 (GRCm39) |
F646Y |
probably damaging |
Het |
| Hp1bp3 |
A |
G |
4: 137,944,481 (GRCm39) |
|
probably benign |
Het |
| Lce1d |
G |
A |
3: 92,593,312 (GRCm39) |
P34S |
unknown |
Het |
| Lpar1 |
G |
A |
4: 58,504,630 (GRCm39) |
Q13* |
probably null |
Het |
| Lrrc61 |
C |
T |
6: 48,545,839 (GRCm39) |
R221* |
probably null |
Het |
| Map2 |
A |
G |
1: 66,470,749 (GRCm39) |
N328D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,684,988 (GRCm39) |
D527V |
possibly damaging |
Het |
| Mycbp2 |
T |
G |
14: 103,532,664 (GRCm39) |
N430T |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,283,887 (GRCm39) |
Y861C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,213,851 (GRCm39) |
T1622A |
probably damaging |
Het |
| Nom1 |
A |
T |
5: 29,654,617 (GRCm39) |
H773L |
possibly damaging |
Het |
| Npc2 |
G |
T |
12: 84,803,919 (GRCm39) |
P144Q |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,655,774 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
A |
T |
9: 48,304,678 (GRCm39) |
Y255F |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,958,474 (GRCm39) |
A3769V |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,832,737 (GRCm39) |
D121G |
probably damaging |
Het |
| Pard6a |
T |
C |
8: 106,428,866 (GRCm39) |
F26L |
probably damaging |
Het |
| Pcdhga4 |
T |
A |
18: 37,819,762 (GRCm39) |
I437N |
probably damaging |
Het |
| Phf12 |
G |
T |
11: 77,914,417 (GRCm39) |
V71F |
probably damaging |
Het |
| Phf21b |
T |
A |
15: 84,679,317 (GRCm39) |
S282C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,821,357 (GRCm39) |
F323S |
possibly damaging |
Het |
| Psmd5 |
A |
T |
2: 34,757,023 (GRCm39) |
I67N |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,303,182 (GRCm39) |
K273R |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpusd1 |
A |
T |
17: 25,949,352 (GRCm39) |
H174L |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,910,106 (GRCm39) |
K94R |
probably benign |
Het |
| Scn2b |
A |
G |
9: 45,029,328 (GRCm39) |
R3G |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,325,126 (GRCm39) |
M782K |
possibly damaging |
Het |
| Skint7 |
A |
G |
4: 111,842,073 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
A |
G |
2: 84,687,184 (GRCm39) |
I319V |
possibly damaging |
Het |
| Snupn |
T |
A |
9: 56,890,247 (GRCm39) |
M356K |
probably damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,848,378 (GRCm39) |
R1250M |
probably damaging |
Het |
| Sprr2h |
T |
C |
3: 92,294,216 (GRCm39) |
V21A |
unknown |
Het |
| Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
| Syne3 |
A |
G |
12: 104,909,622 (GRCm39) |
I738T |
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,975,360 (GRCm39) |
M1L |
probably damaging |
Het |
| Tead2 |
G |
T |
7: 44,867,526 (GRCm39) |
R85L |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,300 (GRCm39) |
N228D |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,865,154 (GRCm39) |
E173V |
probably damaging |
Het |
| Ttc38 |
T |
A |
15: 85,725,698 (GRCm39) |
M187K |
possibly damaging |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,138 (GRCm39) |
T285S |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,591 (GRCm39) |
T603A |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,163,897 (GRCm39) |
M355K |
probably damaging |
Het |
| Wnt5b |
G |
T |
6: 119,423,473 (GRCm39) |
L51I |
probably damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,626 (GRCm39) |
Y230H |
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 |
|
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'- GCCAGGCCTGTAAACTCATG -3'
(R):5'- TGCACACATACAAGCTGCTTTAG -3'
Sequencing Primer
(F):5'- GCCTGTAAACTCATGGCTGAAG -3'
(R):5'- GCTTTAGCCTTCTCACCGAGAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation