Incidental Mutation 'R9751:Styk1'
| ID |
732512 |
| 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 # |
R9751 (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: 99.5%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,881,126 (GRCm39) |
N514D |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,757,101 (GRCm39) |
R786H |
probably null |
Het |
| Ankrd7 |
G |
A |
6: 18,868,024 (GRCm39) |
V97I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,889 (GRCm39) |
I54M |
|
Het |
| Bmper |
C |
T |
9: 23,318,009 (GRCm39) |
P543S |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,795,015 (GRCm39) |
M2233K |
possibly damaging |
Het |
| C1s2 |
G |
T |
6: 124,602,553 (GRCm39) |
P553T |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,823,438 (GRCm39) |
V497I |
possibly damaging |
Het |
| Cacng4 |
A |
G |
11: 107,626,019 (GRCm39) |
S191P |
probably damaging |
Het |
| Cd109 |
C |
A |
9: 78,605,442 (GRCm39) |
T1015K |
probably damaging |
Het |
| Clstn2 |
A |
G |
9: 97,339,703 (GRCm39) |
L756P |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,377,887 (GRCm39) |
D1122E |
possibly damaging |
Het |
| Csf2 |
A |
T |
11: 54,140,420 (GRCm39) |
L6* |
probably null |
Het |
| Csnk1g2 |
T |
A |
10: 80,473,745 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 90,564,731 (GRCm39) |
H116N |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,619,610 (GRCm39) |
S3978L |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 64,960,453 (GRCm39) |
T328I |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,205,403 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,783,911 (GRCm39) |
G2754E |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,538 (GRCm39) |
V26F |
probably damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,526 (GRCm39) |
N11S |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,565,992 (GRCm39) |
Y414F |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,818,241 (GRCm39) |
I4658T |
probably benign |
Het |
| Hycc1 |
C |
T |
5: 24,196,748 (GRCm39) |
E47K |
probably benign |
Het |
| Igflr1 |
A |
T |
7: 30,266,653 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,979,168 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
A |
G |
14: 56,297,511 (GRCm39) |
I215T |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,189,984 (GRCm39) |
Y975C |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,566,419 (GRCm39) |
Y678* |
probably null |
Het |
| Myof |
T |
C |
19: 37,924,818 (GRCm39) |
T1190A |
probably benign |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,195 (GRCm39) |
V796A |
probably damaging |
Het |
| Or4c10b |
C |
T |
2: 89,711,956 (GRCm39) |
T262I |
probably benign |
Het |
| Or4c119 |
C |
T |
2: 88,986,782 (GRCm39) |
V246M |
possibly damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,614 (GRCm39) |
I250L |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,260 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or5p68 |
T |
C |
7: 107,945,645 (GRCm39) |
Y181C |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,824,188 (GRCm39) |
S515P |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,165,436 (GRCm39) |
V257A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,717,414 (GRCm39) |
S1401F |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,777,964 (GRCm39) |
K1043E |
probably benign |
Het |
| Rtn4rl2 |
T |
G |
2: 84,711,039 (GRCm39) |
N75T |
probably damaging |
Het |
| Slc35f4 |
A |
G |
14: 49,536,291 (GRCm39) |
I448T |
possibly damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,918 (GRCm39) |
I11T |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,680 (GRCm39) |
V351A |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,971,570 (GRCm39) |
D195E |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,021,564 (GRCm39) |
A90S |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,765 (GRCm39) |
V1100I |
possibly damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
| Ube2g2 |
G |
A |
10: 77,480,307 (GRCm39) |
V138I |
probably benign |
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 |
|
|
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'- GCATGTGAACAAACTAAGTGCTC -3'
(R):5'- CCCATGGTTATGCTTTAGAGGC -3'
Sequencing Primer
(F):5'- CTGCACCATAATGGAACTGTG -3'
(R):5'- AGAGGCTGCTTTTCAGGTCACAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation