Incidental Mutation 'R8188:Styk1'
| ID |
634975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styk1
|
| Ensembl Gene |
ENSMUSG00000032899 |
| Gene Name |
serine/threonine/tyrosine kinase 1 |
| Synonyms |
|
| MMRRC Submission |
067611-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R8188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
131276096-131330532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 131281848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 257
(V257L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049150]
[ENSMUST00000121078]
|
| AlphaFold |
Q6J9G1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049150
AA Change: V257L
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899
AA Change: V257L
| 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 |
possibly damaging
Transcript: ENSMUST00000121078
AA Change: V168L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112900
Gene: ENSMUSG00000032899
AA Change: V168L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
G |
4: 40,180,284 (GRCm39) |
A395G |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,741,503 (GRCm39) |
C380Y |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,977,418 (GRCm39) |
T422A |
unknown |
Het |
| Baz1b |
G |
T |
5: 135,233,916 (GRCm39) |
V148F |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,451,854 (GRCm39) |
S823R |
probably damaging |
Het |
| Bltp3b |
C |
T |
10: 89,647,928 (GRCm39) |
T1330M |
possibly damaging |
Het |
| Blvra |
A |
C |
2: 126,937,047 (GRCm39) |
S167R |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,225,132 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,228,623 (GRCm39) |
S650P |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,993 (GRCm39) |
D180G |
possibly damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,593 (GRCm39) |
I166T |
probably damaging |
Het |
| Cdnf |
T |
C |
2: 3,514,228 (GRCm39) |
V22A |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,625,868 (GRCm39) |
I869F |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,079,504 (GRCm39) |
K1799* |
probably null |
Het |
| Col20a1 |
G |
A |
2: 180,658,126 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
C |
4: 115,426,943 (GRCm39) |
I182T |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,543 (GRCm39) |
F25L |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,943,928 (GRCm39) |
Y241F |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,814,029 (GRCm39) |
I662V |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,772,499 (GRCm39) |
D390G |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,624 (GRCm39) |
D55G |
probably benign |
Het |
| Exosc5 |
T |
A |
7: 25,358,790 (GRCm39) |
S44T |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,163,997 (GRCm39) |
V3086A |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,730,665 (GRCm39) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,309,004 (GRCm39) |
D50G |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,763,537 (GRCm39) |
|
probably null |
Het |
| Hfe |
A |
G |
13: 23,892,175 (GRCm39) |
V63A |
probably damaging |
Het |
| Hoxd11 |
T |
A |
2: 74,514,298 (GRCm39) |
I276N |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,919,287 (GRCm39) |
S13P |
probably benign |
Het |
| Il12a |
T |
A |
3: 68,598,872 (GRCm39) |
C18S |
unknown |
Het |
| Itk |
G |
T |
11: 46,222,776 (GRCm39) |
Y564* |
probably null |
Het |
| Lrrc46 |
A |
T |
11: 96,931,705 (GRCm39) |
L39Q |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,507,231 (GRCm39) |
L537Q |
probably damaging |
Het |
| Nrap |
A |
C |
19: 56,325,010 (GRCm39) |
Y1234* |
probably null |
Het |
| Or51q1 |
T |
C |
7: 103,628,743 (GRCm39) |
S121P |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,407 (GRCm39) |
M98L |
probably benign |
Het |
| Parn |
T |
C |
16: 13,359,020 (GRCm39) |
D574G |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,725,193 (GRCm39) |
S1350R |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,826,126 (GRCm39) |
H289R |
unknown |
Het |
| Plaa |
T |
C |
4: 94,474,586 (GRCm39) |
Q272R |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,594,292 (GRCm39) |
I174N |
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,139,218 (GRCm39) |
K226N |
probably damaging |
Het |
| Scgb1b2 |
T |
C |
7: 30,990,946 (GRCm39) |
D54G |
possibly damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,456,383 (GRCm39) |
Y599C |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,082 (GRCm39) |
V94A |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,972,579 (GRCm39) |
F281L |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,772,261 (GRCm39) |
T243S |
probably damaging |
Het |
| Smim30 |
C |
T |
6: 13,870,541 (GRCm39) |
G57E |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,692,262 (GRCm39) |
I174T |
probably damaging |
Het |
| Tmem268 |
T |
C |
4: 63,498,209 (GRCm39) |
F210L |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,562,297 (GRCm39) |
L464* |
probably null |
Het |
| Zfhx2 |
A |
T |
14: 55,301,898 (GRCm39) |
S2029T |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,841,296 (GRCm39) |
F572I |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,267,615 (GRCm39) |
I766T |
probably benign |
Het |
| Zfr |
T |
G |
15: 12,171,904 (GRCm39) |
C933W |
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 |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCTTGCAGGTCTCAGG -3'
(R):5'- TGCGTTAGAGCCATTTGGATTATTC -3'
Sequencing Primer
(F):5'- CTTGCAGGTCTCAGGAGAAGC -3'
(R):5'- GTTTGGTAATCCTCAGCCAAAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation