Incidental Mutation 'IGL03029:Styk1'
| ID |
408337 |
| 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: 0.315)
|
| Stock # |
IGL03029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
131276096-131330532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131277523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 284
(S284G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049150]
[ENSMUST00000121078]
|
| AlphaFold |
Q6J9G1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049150
AA Change: S373G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899
AA Change: S373G
| 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
AA Change: S284G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112900
Gene: ENSMUSG00000032899
AA Change: S284G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
A |
9: 106,312,314 (GRCm39) |
D213V |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,933,195 (GRCm39) |
L229P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,304 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
C |
T |
15: 83,206,851 (GRCm39) |
E246K |
probably damaging |
Het |
| Cadps |
G |
T |
14: 12,376,675 (GRCm38) |
T1274K |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,768,451 (GRCm39) |
T89A |
probably benign |
Het |
| Cylc1 |
A |
C |
X: 110,156,944 (GRCm39) |
|
probably benign |
Het |
| Dach2 |
T |
A |
X: 112,724,833 (GRCm39) |
L492* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,038,416 (GRCm39) |
|
probably null |
Het |
| Fanci |
T |
C |
7: 79,093,747 (GRCm39) |
V1033A |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,036,740 (GRCm39) |
I3464T |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,712 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
G |
T |
7: 4,760,839 (GRCm39) |
N624K |
possibly damaging |
Het |
| Hectd3 |
G |
T |
4: 116,854,162 (GRCm39) |
E271* |
probably null |
Het |
| Herc2 |
T |
C |
7: 55,818,715 (GRCm39) |
L2802P |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,715,314 (GRCm39) |
R407C |
probably damaging |
Het |
| Josd2 |
T |
C |
7: 44,120,601 (GRCm39) |
S71P |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,928,313 (GRCm39) |
T1152A |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,469 (GRCm39) |
V1229I |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,212,592 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
T |
A |
10: 78,447,792 (GRCm39) |
I228F |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,798,535 (GRCm39) |
I476F |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,457,899 (GRCm39) |
Y91H |
probably damaging |
Het |
| Pik3r3 |
T |
G |
4: 116,156,998 (GRCm39) |
V393G |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,295,588 (GRCm39) |
|
probably null |
Het |
| Prx |
C |
T |
7: 27,207,486 (GRCm39) |
R48* |
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,631,652 (GRCm39) |
S222P |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,704,482 (GRCm39) |
I302N |
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,967 (GRCm39) |
F331L |
probably damaging |
Het |
| Shisa4 |
G |
T |
1: 135,300,914 (GRCm39) |
Q119K |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,839 (GRCm39) |
E346V |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,686,816 (GRCm39) |
E61V |
probably damaging |
Het |
| Slc9a7 |
T |
A |
X: 20,157,608 (GRCm39) |
M106L |
probably benign |
Het |
| Srek1 |
A |
G |
13: 103,900,468 (GRCm39) |
|
probably benign |
Het |
| Strc |
G |
A |
2: 121,194,525 (GRCm39) |
L1788F |
possibly damaging |
Het |
| Top2a |
T |
A |
11: 98,909,625 (GRCm39) |
T158S |
probably benign |
Het |
| Vangl1 |
C |
T |
3: 102,091,400 (GRCm39) |
V229M |
probably damaging |
Het |
| Vsig1 |
A |
G |
X: 139,827,261 (GRCm39) |
T137A |
possibly 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 |
|
IGL01833:Styk1
|
APN |
6 |
131,279,329 (GRCm39) |
splice site |
probably benign |
|
|
IGL02705:Styk1
|
APN |
6 |
131,289,546 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2016-08-02 |
Incidental Mutation