Incidental Mutation 'IGL03279:Stk38'
ID |
415544 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stk38
|
Ensembl Gene |
ENSMUSG00000024006 |
Gene Name |
serine/threonine kinase 38 |
Synonyms |
5830476G13Rik, Ndr1, 9530097A09Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.516)
|
Stock # |
IGL03279
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29189854-29226969 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 29203179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009138]
[ENSMUST00000119274]
|
AlphaFold |
Q91VJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009138
|
SMART Domains |
Protein: ENSMUSP00000009138 Gene: ENSMUSG00000024006
Domain | Start | End | E-Value | Type |
Blast:S_TKc
|
31 |
77 |
1e-9 |
BLAST |
S_TKc
|
89 |
382 |
1.69e-94 |
SMART |
S_TK_X
|
383 |
447 |
1.23e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119274
|
SMART Domains |
Protein: ENSMUSP00000113657 Gene: ENSMUSG00000024006
Domain | Start | End | E-Value | Type |
Blast:S_TKc
|
31 |
77 |
1e-9 |
BLAST |
S_TKc
|
89 |
382 |
1.69e-94 |
SMART |
S_TK_X
|
383 |
447 |
1.23e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140355
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144299
|
Coding Region Coverage |
|
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 AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection and altered TLR9-activated inflammatory responses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
probably damaging |
Het |
|
Other mutations in Stk38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02364:Stk38
|
APN |
17 |
29,210,390 (GRCm39) |
missense |
probably benign |
|
R0029:Stk38
|
UTSW |
17 |
29,201,112 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Stk38
|
UTSW |
17 |
29,211,390 (GRCm39) |
critical splice donor site |
probably null |
|
R0611:Stk38
|
UTSW |
17 |
29,194,907 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1554:Stk38
|
UTSW |
17 |
29,198,206 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4583:Stk38
|
UTSW |
17 |
29,201,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5191:Stk38
|
UTSW |
17 |
29,193,344 (GRCm39) |
missense |
probably benign |
0.19 |
R5686:Stk38
|
UTSW |
17 |
29,201,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Stk38
|
UTSW |
17 |
29,193,338 (GRCm39) |
missense |
probably benign |
0.01 |
R6468:Stk38
|
UTSW |
17 |
29,203,086 (GRCm39) |
missense |
probably benign |
0.35 |
R6830:Stk38
|
UTSW |
17 |
29,218,981 (GRCm39) |
critical splice donor site |
probably null |
|
R7237:Stk38
|
UTSW |
17 |
29,193,620 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8000:Stk38
|
UTSW |
17 |
29,211,422 (GRCm39) |
missense |
probably benign |
|
R8263:Stk38
|
UTSW |
17 |
29,203,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R8551:Stk38
|
UTSW |
17 |
29,207,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R8805:Stk38
|
UTSW |
17 |
29,219,094 (GRCm39) |
missense |
probably benign |
0.00 |
R9529:Stk38
|
UTSW |
17 |
29,207,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |