Incidental Mutation 'R7393:Stk36'
| ID |
573565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk36
|
| Ensembl Gene |
ENSMUSG00000033276 |
| Gene Name |
serine/threonine kinase 36 |
| Synonyms |
1700112N14Rik, Fused |
| MMRRC Submission |
045475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74640604-74676053 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 74650352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 295
(K295*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087183]
[ENSMUST00000087186]
[ENSMUST00000148456]
[ENSMUST00000189830]
|
| AlphaFold |
Q69ZM6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087183
AA Change: K295*
|
| SMART Domains |
Protein: ENSMUSP00000084430
Gene: ENSMUSG00000033276
AA Change: K295*
| 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 null
Transcript: ENSMUST00000087186
AA Change: K295*
|
| SMART Domains |
Protein: ENSMUSP00000084433
Gene: ENSMUSG00000033276
AA Change: K295*
| 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 null
Transcript: ENSMUST00000148456
AA Change: K295*
|
| SMART Domains |
Protein: ENSMUSP00000120020
Gene: ENSMUSG00000033276
AA Change: K295*
| 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: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,473,541 (GRCm39) |
M86T |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,725 (GRCm39) |
N255S |
probably benign |
Het |
| Adam4 |
G |
A |
12: 81,466,434 (GRCm39) |
S729L |
probably benign |
Het |
| Adcy1 |
G |
T |
11: 7,087,381 (GRCm39) |
W418C |
probably damaging |
Het |
| Add2 |
T |
A |
6: 86,075,629 (GRCm39) |
Y259* |
probably null |
Het |
| Agl |
A |
T |
3: 116,584,805 (GRCm39) |
C172S |
probably benign |
Het |
| Ankfy1 |
A |
G |
11: 72,629,134 (GRCm39) |
T319A |
possibly damaging |
Het |
| Armc8 |
A |
T |
9: 99,366,052 (GRCm39) |
C621S |
possibly damaging |
Het |
| Atp5mj |
A |
G |
12: 111,929,711 (GRCm39) |
V26A |
probably benign |
Het |
| Bbc3 |
A |
G |
7: 16,047,714 (GRCm39) |
D146G |
probably benign |
Het |
| Btnl10 |
T |
C |
11: 58,814,532 (GRCm39) |
L404P |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,065,485 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
T |
A |
10: 4,464,314 (GRCm39) |
|
probably null |
Het |
| Ccdc91 |
T |
A |
6: 147,435,527 (GRCm39) |
V37E |
possibly damaging |
Het |
| Ces1e |
G |
T |
8: 93,937,045 (GRCm39) |
T343K |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,224 (GRCm39) |
F323I |
probably damaging |
Het |
| Clcnkb |
T |
A |
4: 141,136,756 (GRCm39) |
M370L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,755 (GRCm39) |
D364G |
unknown |
Het |
| Ctbp2 |
A |
G |
7: 132,590,021 (GRCm39) |
I381T |
probably benign |
Het |
| Cyp4a29 |
A |
C |
4: 115,099,393 (GRCm39) |
Y38S |
probably damaging |
Het |
| Ddx1 |
T |
C |
12: 13,280,354 (GRCm39) |
D382G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,435,598 (GRCm39) |
D262G |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,609,660 (GRCm39) |
Q1035K |
probably damaging |
Het |
| Gbp11 |
T |
A |
5: 105,475,443 (GRCm39) |
N302Y |
possibly damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,698 (GRCm39) |
T172S |
unknown |
Het |
| Hamp2 |
A |
T |
7: 30,622,030 (GRCm39) |
M53K |
possibly damaging |
Het |
| Kcnj1 |
A |
G |
9: 32,308,314 (GRCm39) |
D246G |
probably damaging |
Het |
| Kctd20 |
T |
C |
17: 29,182,312 (GRCm39) |
F209L |
probably damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,165 (GRCm39) |
Y148C |
probably damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,625,985 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
T |
C |
11: 88,095,284 (GRCm39) |
L6P |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo7a |
G |
A |
7: 97,712,906 (GRCm39) |
R1690C |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,443,493 (GRCm39) |
S1183P |
probably damaging |
Het |
| Ndufaf4 |
T |
A |
4: 24,903,177 (GRCm39) |
M122K |
probably benign |
Het |
| Nop2 |
C |
A |
6: 125,110,509 (GRCm39) |
S45* |
probably null |
Het |
| Nop56 |
T |
A |
2: 130,116,558 (GRCm39) |
L3Q |
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,784,583 (GRCm39) |
I244T |
probably damaging |
Het |
| Or4d10c |
T |
A |
19: 12,065,992 (GRCm39) |
T55S |
probably benign |
Het |
| Or51v14 |
A |
G |
7: 103,261,198 (GRCm39) |
S121P |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,527,614 (GRCm39) |
D1941G |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,830,712 (GRCm39) |
K387E |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,564 (GRCm39) |
Y306C |
possibly damaging |
Het |
| Ppp1r13b |
G |
A |
12: 111,805,188 (GRCm39) |
P333S |
probably damaging |
Het |
| Rcc2 |
A |
G |
4: 140,444,341 (GRCm39) |
D344G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,181,349 (GRCm39) |
N1810K |
probably damaging |
Het |
| Rfesd |
G |
T |
13: 76,151,149 (GRCm39) |
A90E |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,412,948 (GRCm39) |
K552E |
probably damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,667,872 (GRCm39) |
I190V |
probably benign |
Het |
| Sele |
C |
A |
1: 163,881,492 (GRCm39) |
T533K |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,170 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,841,093 (GRCm39) |
S106P |
probably benign |
Het |
| Spidr |
C |
T |
16: 15,964,695 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,748,887 (GRCm39) |
D1056E |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,893,210 (GRCm39) |
S1046P |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,077,259 (GRCm39) |
F385V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,774,689 (GRCm39) |
G2164W |
unknown |
Het |
| Ubap1 |
T |
A |
4: 41,379,764 (GRCm39) |
L326* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,154,096 (GRCm39) |
N812S |
probably damaging |
Het |
| Vmn1r160 |
A |
G |
7: 22,570,778 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,574 (GRCm39) |
S139N |
possibly damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,099 (GRCm39) |
I137M |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,086 (GRCm39) |
W9R |
probably null |
Het |
| Zfp101 |
T |
C |
17: 33,605,674 (GRCm39) |
N45D |
possibly 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 |
|
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'- AATGGCCTCTTCCTACGGAG -3'
(R):5'- CGGAGACAAGAGAACTATTTGTGC -3'
Sequencing Primer
(F):5'- AGAGCCACTGATGTGTCCCTTG -3'
(R):5'- ATTTGTGCTCTTCCTATCTTTTTGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation