Incidental Mutation 'R9725:Styk1'
| ID |
730987 |
| 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 # |
R9725 (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) |
GTCTCTTCATGATT to GT
at 131278610 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,290,797 (GRCm39) |
I1469S |
possibly damaging |
Het |
| Aff1 |
A |
T |
5: 103,994,931 (GRCm39) |
D1043V |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,607 (GRCm39) |
I4297N |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,634 (GRCm39) |
N465S |
possibly damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,548 (GRCm39) |
S545P |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,432,561 (GRCm39) |
Q121L |
probably benign |
Het |
| Cfap221 |
G |
T |
1: 119,862,352 (GRCm39) |
Q577K |
probably benign |
Het |
| Dlg1 |
T |
G |
16: 31,665,683 (GRCm39) |
L680R |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,304 (GRCm39) |
E301G |
probably benign |
Het |
| Fn3k |
T |
A |
11: 121,341,191 (GRCm39) |
L282H |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,289 (GRCm39) |
S175P |
probably damaging |
Het |
| Gm12695 |
A |
G |
4: 96,616,466 (GRCm39) |
S456P |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,844 (GRCm39) |
T95A |
probably benign |
Het |
| Kcnj13 |
G |
T |
1: 87,314,737 (GRCm39) |
T83K |
probably benign |
Het |
| Kif19b |
G |
A |
5: 140,460,651 (GRCm39) |
R439H |
probably benign |
Het |
| Klra10 |
C |
T |
6: 130,252,849 (GRCm39) |
G142R |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,097,902 (GRCm39) |
N127S |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,968,775 (GRCm39) |
M323V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,147 (GRCm39) |
D484G |
probably benign |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,788 (GRCm39) |
C505R |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,280,729 (GRCm39) |
S610T |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,856,841 (GRCm39) |
N1282S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,784 (GRCm39) |
D817E |
possibly damaging |
Het |
| Ndufs2 |
A |
G |
1: 171,074,629 (GRCm39) |
L10P |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,169,362 (GRCm39) |
D139G |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,612 (GRCm39) |
T166A |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,272 (GRCm39) |
T132I |
possibly damaging |
Het |
| Or6aa1 |
A |
C |
7: 86,043,973 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,794 (GRCm39) |
V164F |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,992 (GRCm39) |
T417A |
probably damaging |
Het |
| Prcp |
G |
T |
7: 92,567,035 (GRCm39) |
|
probably null |
Het |
| Rasgrp2 |
A |
G |
19: 6,454,694 (GRCm39) |
Y178C |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,463,907 (GRCm39) |
N535S |
probably benign |
Het |
| Rgs20 |
G |
T |
1: 4,980,793 (GRCm39) |
Y208* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,223 (GRCm39) |
C798R |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,265 (GRCm39) |
S172P |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,881 (GRCm39) |
I622N |
probably damaging |
Het |
| Trav16n |
A |
G |
14: 53,588,559 (GRCm39) |
S5G |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,849,304 (GRCm39) |
R645H |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,114 (GRCm39) |
D649G |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,922,287 (GRCm39) |
V79I |
possibly damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,036,506 (GRCm39) |
I54V |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,577 (GRCm39) |
F279S |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,135 (GRCm39) |
W589R |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
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 |
|
|
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'- GTGAACAAACTAAGTGCTCCTG -3'
(R):5'- AGAGGCTGCTTTTCAGGTC -3'
Sequencing Primer
(F):5'- CTGCACCATAATGGAACTGTG -3'
(R):5'- CTGCTTTTCAGGTCACAGGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation