Incidental Mutation 'R3153:Styk1'
| ID |
264465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Styk1
|
| Ensembl Gene |
ENSMUSG00000032899 |
| Gene Name |
serine/threonine/tyrosine kinase 1 |
| Synonyms |
|
| MMRRC Submission |
040604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R3153 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
131276096-131330532 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 131286975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 84
(Y84*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049150]
[ENSMUST00000121078]
|
| AlphaFold |
Q6J9G1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049150
AA Change: Y173*
|
| SMART Domains |
Protein: ENSMUSP00000044098
Gene: ENSMUSG00000032899
AA Change: Y173*
| 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 null
Transcript: ENSMUST00000121078
AA Change: Y84*
|
| SMART Domains |
Protein: ENSMUSP00000112900
Gene: ENSMUSG00000032899
AA Change: Y84*
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
| Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
| Abhd12 |
A |
G |
2: 150,676,275 (GRCm39) |
F361L |
probably benign |
Het |
| Abr |
A |
T |
11: 76,377,295 (GRCm39) |
I59N |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,944 (GRCm39) |
E681G |
probably damaging |
Het |
| B3gnt4 |
G |
T |
5: 123,648,716 (GRCm39) |
R27L |
probably benign |
Het |
| Cct8l1 |
A |
C |
5: 25,722,137 (GRCm39) |
E284A |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cndp2 |
C |
A |
18: 84,686,722 (GRCm39) |
M433I |
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col20a1 |
C |
T |
2: 180,650,386 (GRCm39) |
P1074L |
probably damaging |
Het |
| Coq6 |
G |
A |
12: 84,418,309 (GRCm39) |
V298M |
probably damaging |
Het |
| Cpt1a |
A |
G |
19: 3,406,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,474,798 (GRCm39) |
I321F |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,350,987 (GRCm39) |
F166L |
probably benign |
Het |
| Gatc |
T |
C |
5: 115,473,546 (GRCm39) |
E131G |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,575,770 (GRCm39) |
P385L |
probably damaging |
Het |
| Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,759,980 (GRCm39) |
D337G |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
| Kank1 |
T |
A |
19: 25,388,052 (GRCm39) |
V575E |
possibly damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,916,339 (GRCm39) |
D95V |
probably damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,764,243 (GRCm39) |
Y125* |
probably null |
Het |
| Lce1h |
C |
T |
3: 92,670,982 (GRCm39) |
G57R |
unknown |
Het |
| Lgalsl |
A |
G |
11: 20,776,487 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,192,526 (GRCm39) |
M147V |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,545,618 (GRCm39) |
E23G |
possibly damaging |
Het |
| Mthfd1 |
C |
A |
12: 76,358,737 (GRCm39) |
Q67K |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,019,870 (GRCm39) |
L755P |
probably damaging |
Het |
| Or5m13b |
T |
C |
2: 85,754,074 (GRCm39) |
V154A |
probably benign |
Het |
| Orc3 |
A |
G |
4: 34,575,124 (GRCm39) |
F587L |
probably damaging |
Het |
| Pcdhb7 |
C |
T |
18: 37,476,126 (GRCm39) |
P421S |
probably damaging |
Het |
| Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
| Pkd1l1 |
A |
C |
11: 8,817,207 (GRCm39) |
S1364A |
probably benign |
Het |
| Rin3 |
A |
C |
12: 102,334,800 (GRCm39) |
E157A |
unknown |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,111,440 (GRCm39) |
T47A |
probably damaging |
Het |
| Sap18 |
T |
C |
14: 58,039,402 (GRCm39) |
M68T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,577 (GRCm39) |
T246A |
probably benign |
Het |
| Slc18a3 |
A |
G |
14: 32,185,228 (GRCm39) |
V385A |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,315 (GRCm39) |
W819* |
probably null |
Het |
| Smap1 |
A |
T |
1: 23,892,630 (GRCm39) |
D111E |
probably damaging |
Het |
| Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
| Sv2a |
T |
A |
3: 96,092,574 (GRCm39) |
D91E |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,275,264 (GRCm39) |
I77T |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,182,580 (GRCm39) |
C149S |
probably damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,570,302 (GRCm39) |
K261E |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,119,734 (GRCm39) |
L179P |
probably benign |
Het |
| Zkscan5 |
T |
A |
5: 145,149,437 (GRCm39) |
S251R |
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 |
|
|
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 |
|
|
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'- TGACGTGTGAAACACTAACCAAAG -3'
(R):5'- AGCATTACTGTCTTCTAGGTGGTC -3'
Sequencing Primer
(F):5'- CAAAGCTTTTCCTTACTAGTGTAGC -3'
(R):5'- AGGTGGTCCTCCCTTCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation