Incidental Mutation 'IGL01833:Styk1'
ID |
154860 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Styk1
|
Ensembl Gene |
ENSMUSG00000032899 |
Gene Name |
serine/threonine/tyrosine kinase 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
IGL01833
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
131276096-131330532 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 131279329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049150]
[ENSMUST00000121078]
|
AlphaFold |
Q6J9G1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049150
|
SMART Domains |
Protein: ENSMUSP00000044098 Gene: ENSMUSG00000032899
Domain | Start | End | E-Value | Type |
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
119 |
387 |
3.2e-31 |
PFAM |
Pfam:Pkinase_Tyr
|
119 |
387 |
1.8e-59 |
PFAM |
low complexity region
|
399 |
410 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121078
|
SMART Domains |
Protein: ENSMUSP00000112900 Gene: ENSMUSG00000032899
Domain | Start | End | E-Value | Type |
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
67 |
298 |
2.5e-53 |
PFAM |
Pfam:Pkinase
|
68 |
298 |
5.7e-29 |
PFAM |
low complexity region
|
310 |
321 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,400,617 (GRCm39) |
I241N |
probably damaging |
Het |
Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
Kpna3 |
T |
C |
14: 61,607,894 (GRCm39) |
N437S |
possibly damaging |
Het |
Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
Rhpn2 |
T |
A |
7: 35,075,596 (GRCm39) |
Y258N |
probably benign |
Het |
Serpinb9d |
T |
C |
13: 33,384,688 (GRCm39) |
Y222H |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
Stat2 |
T |
G |
10: 128,117,045 (GRCm39) |
F293V |
probably benign |
Het |
Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
Xpnpep1 |
A |
G |
19: 52,988,824 (GRCm39) |
Y463H |
probably damaging |
Het |
|
Other mutations in Styk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00822:Styk1
|
APN |
6 |
131,278,625 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01370:Styk1
|
APN |
6 |
131,278,615 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02705:Styk1
|
APN |
6 |
131,289,546 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03029:Styk1
|
APN |
6 |
131,277,523 (GRCm39) |
missense |
probably benign |
0.27 |
conviction
|
UTSW |
6 |
131,289,539 (GRCm39) |
missense |
probably benign |
0.01 |
will
|
UTSW |
6 |
131,289,880 (GRCm39) |
critical splice donor site |
probably null |
|
R0201:Styk1
|
UTSW |
6 |
131,278,693 (GRCm39) |
splice site |
probably benign |
|
R2267:Styk1
|
UTSW |
6 |
131,289,539 (GRCm39) |
missense |
probably benign |
0.01 |
R2268:Styk1
|
UTSW |
6 |
131,289,539 (GRCm39) |
missense |
probably benign |
0.01 |
R2269:Styk1
|
UTSW |
6 |
131,289,539 (GRCm39) |
missense |
probably benign |
0.01 |
R2919:Styk1
|
UTSW |
6 |
131,289,967 (GRCm39) |
start gained |
probably benign |
|
R3153:Styk1
|
UTSW |
6 |
131,286,975 (GRCm39) |
nonsense |
probably null |
|
R3154:Styk1
|
UTSW |
6 |
131,286,975 (GRCm39) |
nonsense |
probably null |
|
R4041:Styk1
|
UTSW |
6 |
131,289,880 (GRCm39) |
critical splice donor site |
probably null |
|
R4650:Styk1
|
UTSW |
6 |
131,277,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Styk1
|
UTSW |
6 |
131,277,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:Styk1
|
UTSW |
6 |
131,278,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Styk1
|
UTSW |
6 |
131,281,670 (GRCm39) |
missense |
probably damaging |
0.97 |
R5637:Styk1
|
UTSW |
6 |
131,277,381 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6137:Styk1
|
UTSW |
6 |
131,287,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R6429:Styk1
|
UTSW |
6 |
131,287,027 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7522:Styk1
|
UTSW |
6 |
131,289,803 (GRCm39) |
splice site |
probably null |
|
R8188:Styk1
|
UTSW |
6 |
131,281,848 (GRCm39) |
missense |
probably benign |
0.43 |
R9255:Styk1
|
UTSW |
6 |
131,286,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R9704:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9705:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9712:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9714:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9715:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9725:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9725:Styk1
|
UTSW |
6 |
131,278,610 (GRCm39) |
small deletion |
probably benign |
|
R9750:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9751:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9752:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9753:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9771:Styk1
|
UTSW |
6 |
131,278,612 (GRCm39) |
small deletion |
probably benign |
|
R9778:Styk1
|
UTSW |
6 |
131,287,992 (GRCm39) |
nonsense |
probably null |
|
X0021:Styk1
|
UTSW |
6 |
131,284,032 (GRCm39) |
critical splice donor site |
probably null |
|
X0026:Styk1
|
UTSW |
6 |
131,287,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-02-04 |