Incidental Mutation 'R9771:Styk1'
ID |
733443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Styk1
|
Ensembl Gene |
ENSMUSG00000032899 |
Gene Name |
serine/threonine/tyrosine kinase 1 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R9771 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
131276096-131330532 bp(-) (GRCm39) |
Type of Mutation |
small deletion (4 aa in frame mutation) |
DNA Base Change (assembly) |
CTCTTCATGATTTTCTT to CTCTT
at 131278612 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
G |
3: 146,356,743 (GRCm39) |
I55T |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,310 (GRCm39) |
T866A |
probably benign |
Het |
Alg12 |
A |
T |
15: 88,700,373 (GRCm39) |
V21E |
probably damaging |
Het |
Bod1l |
C |
A |
5: 41,949,206 (GRCm39) |
R2972L |
probably damaging |
Het |
Card6 |
T |
A |
15: 5,129,693 (GRCm39) |
I568F |
probably benign |
Het |
Ccdc89 |
A |
G |
7: 90,075,810 (GRCm39) |
T7A |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,573,517 (GRCm39) |
|
probably benign |
Het |
Dnmbp |
T |
C |
19: 43,855,031 (GRCm39) |
I297M |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,066,833 (GRCm39) |
E200G |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,811,537 (GRCm39) |
S1575P |
probably benign |
Het |
Gm18596 |
A |
C |
10: 77,577,962 (GRCm39) |
S171A |
unknown |
Het |
Gmip |
T |
A |
8: 70,266,718 (GRCm39) |
C278S |
probably benign |
Het |
Gngt2 |
G |
T |
11: 95,728,124 (GRCm39) |
|
probably benign |
Het |
Gnptab |
G |
A |
10: 88,268,485 (GRCm39) |
D531N |
probably damaging |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Kcnh7 |
A |
G |
2: 62,569,719 (GRCm39) |
C726R |
probably damaging |
Het |
Map4k4 |
T |
C |
1: 40,025,877 (GRCm39) |
I289T |
unknown |
Het |
Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nol11 |
C |
A |
11: 107,069,914 (GRCm39) |
W312L |
probably damaging |
Het |
Or11i1 |
A |
T |
3: 106,729,060 (GRCm39) |
Y272N |
possibly damaging |
Het |
Or1p1c |
G |
A |
11: 74,160,635 (GRCm39) |
R140H |
probably benign |
Het |
Osbpl10 |
G |
A |
9: 114,896,356 (GRCm39) |
R30Q |
probably benign |
Het |
Osbpl6 |
T |
C |
2: 76,423,771 (GRCm39) |
L878P |
possibly damaging |
Het |
Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,358,883 (GRCm39) |
H364R |
probably benign |
Het |
Polr1f |
A |
G |
12: 33,487,828 (GRCm39) |
T248A |
probably benign |
Het |
Prss56 |
T |
C |
1: 87,113,365 (GRCm39) |
I231T |
possibly damaging |
Het |
Ptcd3 |
G |
A |
6: 71,872,903 (GRCm39) |
R263* |
probably null |
Het |
Ptprq |
T |
A |
10: 107,521,085 (GRCm39) |
I696F |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 142,082,624 (GRCm39) |
I1341F |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,613,207 (GRCm39) |
Y428C |
probably damaging |
Het |
Sh3tc1 |
A |
C |
5: 35,873,654 (GRCm39) |
F217C |
probably damaging |
Het |
Sptb |
G |
A |
12: 76,650,353 (GRCm39) |
T1788I |
probably damaging |
Het |
Stard13 |
G |
A |
5: 150,983,048 (GRCm39) |
P672L |
probably damaging |
Het |
Tada3 |
A |
C |
6: 113,349,319 (GRCm39) |
S244A |
probably benign |
Het |
Tnc |
T |
A |
4: 63,925,600 (GRCm39) |
I979F |
probably damaging |
Het |
Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
Vmn1r177 |
T |
C |
7: 23,565,657 (GRCm39) |
N73S |
probably damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,997,559 (GRCm39) |
E405G |
possibly damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,042,079 (GRCm39) |
H212R |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,000,195 (GRCm39) |
L3015P |
probably damaging |
Het |
Wdr11 |
T |
C |
7: 129,206,851 (GRCm39) |
S255P |
probably damaging |
Het |
Ypel3 |
T |
C |
7: 126,379,226 (GRCm39) |
Y100H |
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 |
|
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 |
|
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'- GTGAACAAACTAAGTGCTCCTG -3'
(R):5'- CCCATGGTTATGCTTTAGAGGC -3'
Sequencing Primer
(F):5'- CTGCACCATAATGGAACTGTG -3'
(R):5'- AGAGGCTGCTTTTCAGGTCACAG -3'
|
Posted On |
2022-11-14 |