Incidental Mutation 'R6137:Styk1'
| ID |
488397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styk1
|
| Ensembl Gene |
ENSMUSG00000032899 |
| Gene Name |
serine/threonine/tyrosine kinase 1 |
| Synonyms |
|
| MMRRC Submission |
044284-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.341)
|
| Stock # |
R6137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
131299142-131353597 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 131311016 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 128
(G128D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049150]
[ENSMUST00000121078]
|
| AlphaFold |
Q6J9G1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049150
AA Change: G128D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899
AA Change: G128D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135859
|
| Meta Mutation Damage Score |
0.9349 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700092M07Rik |
A |
T |
19: 8,740,784 (GRCm38) |
D6V |
probably damaging |
Het |
| 2310057M21Rik |
G |
T |
7: 131,357,613 (GRCm38) |
H165Q |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,677,416 (GRCm38) |
F721Y |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,140,354 (GRCm38) |
D1517V |
probably damaging |
Het |
| Amigo3 |
T |
A |
9: 108,053,728 (GRCm38) |
S117T |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,201,411 (GRCm38) |
N34K |
probably damaging |
Het |
| Cacnb1 |
A |
C |
11: 98,005,782 (GRCm38) |
V351G |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,805,349 (GRCm38) |
|
probably null |
Het |
| Ccdc51 |
C |
T |
9: 109,089,415 (GRCm38) |
T24I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,434,512 (GRCm38) |
Y618F |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,758,688 (GRCm38) |
W1271R |
probably damaging |
Het |
| Dars |
T |
C |
1: 128,368,439 (GRCm38) |
T386A |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,765,106 (GRCm38) |
D834V |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,936,381 (GRCm38) |
V933E |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,025,654 (GRCm38) |
F4203S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,130,382 (GRCm38) |
L2000P |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,008,669 (GRCm38) |
H444Q |
probably benign |
Het |
| Fbxw14 |
T |
A |
9: 109,276,222 (GRCm38) |
T292S |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,559,206 (GRCm38) |
S237P |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 80,615,047 (GRCm38) |
I1323T |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,653,449 (GRCm38) |
F652L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,923,458 (GRCm38) |
M142L |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,619,060 (GRCm38) |
Q503R |
possibly damaging |
Het |
| Ighv5-17 |
A |
G |
12: 113,859,295 (GRCm38) |
Y69H |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,475,582 (GRCm38) |
N242S |
probably benign |
Het |
| Immp1l |
G |
C |
2: 105,964,208 (GRCm38) |
G117A |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,894,692 (GRCm38) |
V10A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,238,426 (GRCm38) |
K679E |
possibly damaging |
Het |
| Kng1 |
T |
C |
16: 23,074,645 (GRCm38) |
V256A |
possibly damaging |
Het |
| Lamc2 |
T |
G |
1: 153,166,153 (GRCm38) |
R78S |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,598,793 (GRCm38) |
F621S |
probably damaging |
Het |
| Lpl |
T |
A |
8: 68,892,747 (GRCm38) |
D134E |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,640,494 (GRCm38) |
Y329H |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,535,886 (GRCm38) |
D225G |
probably benign |
Het |
| Myo7b |
A |
G |
18: 31,999,974 (GRCm38) |
F441L |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,336,328 (GRCm38) |
M699L |
possibly damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,191,851 (GRCm38) |
M144K |
probably damaging |
Het |
| Olfr1040 |
A |
G |
2: 86,145,969 (GRCm38) |
V255A |
probably benign |
Het |
| Olfr1347 |
T |
C |
7: 6,488,845 (GRCm38) |
T3A |
probably benign |
Het |
| Olfr325 |
A |
T |
11: 58,581,068 (GRCm38) |
M75L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,871,543 (GRCm38) |
Y667N |
probably damaging |
Het |
| Prps1l3 |
A |
G |
12: 57,238,888 (GRCm38) |
I155V |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 150,100,993 (GRCm38) |
N24K |
probably benign |
Het |
| Ralgds |
A |
T |
2: 28,547,588 (GRCm38) |
M514L |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,026,283 (GRCm38) |
R326G |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,569,005 (GRCm38) |
V254D |
probably damaging |
Het |
| Selenot |
A |
T |
3: 58,585,284 (GRCm38) |
Q64L |
probably damaging |
Het |
| Sgsm2 |
G |
A |
11: 74,850,851 (GRCm38) |
R1037W |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,542,724 (GRCm38) |
V10A |
probably benign |
Het |
| Spem2 |
G |
T |
11: 69,816,696 (GRCm38) |
S481* |
probably null |
Het |
| Tmc6 |
A |
T |
11: 117,776,328 (GRCm38) |
L148Q |
probably damaging |
Het |
| Tmem138 |
A |
C |
19: 10,574,835 (GRCm38) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,555,268 (GRCm38) |
V772A |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,797,756 (GRCm38) |
F1483S |
possibly damaging |
Het |
| Tuba4a |
C |
A |
1: 75,216,055 (GRCm38) |
C305F |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,262 (GRCm38) |
F159V |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,849,016 (GRCm38) |
I129T |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 47,856,263 (GRCm38) |
M828K |
unknown |
Het |
| Zfp236 |
A |
T |
18: 82,671,794 (GRCm38) |
S187T |
possibly damaging |
Het |
|
| Other mutations in Styk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Styk1
|
APN |
6 |
131,301,662 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01370:Styk1
|
APN |
6 |
131,301,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01833:Styk1
|
APN |
6 |
131,302,366 (GRCm38) |
splice site |
probably benign |
|
|
IGL02705:Styk1
|
APN |
6 |
131,312,583 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03029:Styk1
|
APN |
6 |
131,300,560 (GRCm38) |
missense |
probably benign |
0.27 |
|
conviction
|
UTSW |
6 |
131,312,576 (GRCm38) |
missense |
probably benign |
0.01 |
|
will
|
UTSW |
6 |
131,312,917 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0201:Styk1
|
UTSW |
6 |
131,301,730 (GRCm38) |
splice site |
probably benign |
|
|
R2267:Styk1
|
UTSW |
6 |
131,312,576 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2268:Styk1
|
UTSW |
6 |
131,312,576 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2269:Styk1
|
UTSW |
6 |
131,312,576 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2919:Styk1
|
UTSW |
6 |
131,313,004 (GRCm38) |
start gained |
probably benign |
|
|
R3153:Styk1
|
UTSW |
6 |
131,310,012 (GRCm38) |
nonsense |
probably null |
|
|
R3154:Styk1
|
UTSW |
6 |
131,310,012 (GRCm38) |
nonsense |
probably null |
|
|
R4041:Styk1
|
UTSW |
6 |
131,312,917 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4650:Styk1
|
UTSW |
6 |
131,300,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4739:Styk1
|
UTSW |
6 |
131,300,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5079:Styk1
|
UTSW |
6 |
131,301,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5497:Styk1
|
UTSW |
6 |
131,304,707 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5637:Styk1
|
UTSW |
6 |
131,300,418 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6429:Styk1
|
UTSW |
6 |
131,310,064 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7522:Styk1
|
UTSW |
6 |
131,312,840 (GRCm38) |
splice site |
probably null |
|
|
R8188:Styk1
|
UTSW |
6 |
131,304,885 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9255:Styk1
|
UTSW |
6 |
131,309,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9704:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9705:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9712:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9714:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9715:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9725:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9725:Styk1
|
UTSW |
6 |
131,301,647 (GRCm38) |
small deletion |
probably benign |
|
|
R9750:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9751:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9752:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9753:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9771:Styk1
|
UTSW |
6 |
131,301,649 (GRCm38) |
small deletion |
probably benign |
|
|
R9778:Styk1
|
UTSW |
6 |
131,311,029 (GRCm38) |
nonsense |
probably null |
|
|
X0021:Styk1
|
UTSW |
6 |
131,307,069 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0026:Styk1
|
UTSW |
6 |
131,310,939 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCTGCATCAAGCTTCCC -3'
(R):5'- TGCCTCTGTACCTGCATCTAGG -3'
Sequencing Primer
(F):5'- CATGTGTGCTAATAGGCTTCTTAATG -3'
(R):5'- TGTACCTGCATCTAGGGGCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation