Incidental Mutation 'R1667:Dstyk'
ID |
187253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dstyk
|
Ensembl Gene |
ENSMUSG00000042046 |
Gene Name |
dual serine/threonine and tyrosine protein kinase |
Synonyms |
A930019K20Rik, C430014H23Rik |
MMRRC Submission |
039703-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R1667 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132384657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 717
(D717G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
AlphaFold |
Q6XUX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045110
AA Change: D717G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035358 Gene: ENSMUSG00000042046 AA Change: D717G
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
22 |
N/A |
INTRINSIC |
low complexity region
|
57 |
73 |
N/A |
INTRINSIC |
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
low complexity region
|
630 |
641 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
651 |
904 |
6.9e-37 |
PFAM |
Pfam:Pkinase
|
651 |
905 |
5.1e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188006
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188389
AA Change: D717G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139652 Gene: ENSMUSG00000042046 AA Change: D717G
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
22 |
N/A |
INTRINSIC |
low complexity region
|
57 |
73 |
N/A |
INTRINSIC |
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
low complexity region
|
630 |
641 |
N/A |
INTRINSIC |
S_TKc
|
650 |
859 |
2e-13 |
SMART |
|
Meta Mutation Damage Score |
0.8487 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
99% (76/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] PHENOTYPE: Homozygous knockout results in impaired spatial learning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
A |
7: 139,425,564 (GRCm39) |
A26T |
possibly damaging |
Het |
Adgrg3 |
T |
A |
8: 95,760,001 (GRCm39) |
Y73* |
probably null |
Het |
Alk |
A |
T |
17: 72,218,562 (GRCm39) |
V761E |
probably damaging |
Het |
Ankrd13a |
T |
C |
5: 114,924,794 (GRCm39) |
V93A |
possibly damaging |
Het |
Anks1b |
T |
C |
10: 90,347,046 (GRCm39) |
|
probably null |
Het |
Arb2a |
T |
A |
13: 77,907,635 (GRCm39) |
M1K |
probably null |
Het |
Ascl1 |
T |
C |
10: 87,328,655 (GRCm39) |
N99S |
probably benign |
Het |
Atm |
A |
T |
9: 53,412,232 (GRCm39) |
L972Q |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,309,996 (GRCm39) |
L566Q |
probably null |
Het |
Bank1 |
T |
A |
3: 135,799,057 (GRCm39) |
Y629F |
probably damaging |
Het |
Bod1l |
G |
T |
5: 41,974,118 (GRCm39) |
L2399I |
probably benign |
Het |
Bub1b |
G |
A |
2: 118,471,670 (GRCm39) |
G1010D |
probably benign |
Het |
Ces1b |
G |
A |
8: 93,783,532 (GRCm39) |
H563Y |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,454,225 (GRCm39) |
E853G |
probably benign |
Het |
Cfh |
T |
C |
1: 140,033,261 (GRCm39) |
E779G |
probably benign |
Het |
Cox7c |
A |
G |
13: 86,194,003 (GRCm39) |
S7P |
probably benign |
Het |
Cyp2c67 |
A |
G |
19: 39,632,034 (GRCm39) |
|
probably null |
Het |
Dhx30 |
G |
T |
9: 109,914,513 (GRCm39) |
L995I |
possibly damaging |
Het |
Dhx30 |
G |
C |
9: 109,914,514 (GRCm39) |
N957K |
possibly damaging |
Het |
Dsc3 |
T |
C |
18: 20,124,617 (GRCm39) |
T36A |
possibly damaging |
Het |
Dusp10 |
A |
G |
1: 183,769,055 (GRCm39) |
D7G |
probably damaging |
Het |
E230001N04Rik |
T |
G |
17: 28,742,935 (GRCm39) |
|
noncoding transcript |
Het |
Ece2 |
T |
C |
16: 20,456,588 (GRCm39) |
S330P |
possibly damaging |
Het |
Frmd5 |
ATAGTGGAATTGTTCAAACTC |
ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC |
2: 121,379,211 (GRCm39) |
|
probably null |
Het |
Gata3 |
T |
C |
2: 9,882,360 (GRCm39) |
H14R |
possibly damaging |
Het |
Ggta1 |
T |
A |
2: 35,304,295 (GRCm39) |
I75F |
possibly damaging |
Het |
Hcn1 |
A |
T |
13: 117,739,609 (GRCm39) |
I124F |
unknown |
Het |
Herpud1 |
A |
C |
8: 95,115,994 (GRCm39) |
D53A |
probably damaging |
Het |
Inhba |
T |
A |
13: 16,201,209 (GRCm39) |
L257Q |
possibly damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Jmy |
T |
A |
13: 93,634,878 (GRCm39) |
S313C |
probably damaging |
Het |
Lpo |
G |
A |
11: 87,698,067 (GRCm39) |
|
probably benign |
Het |
Lsg1 |
T |
C |
16: 30,390,170 (GRCm39) |
E315G |
probably damaging |
Het |
Lsm14a |
T |
A |
7: 34,065,079 (GRCm39) |
T167S |
possibly damaging |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map3k2 |
T |
C |
18: 32,336,845 (GRCm39) |
|
probably benign |
Het |
Mapk12 |
A |
T |
15: 89,024,344 (GRCm39) |
M81K |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,378,878 (GRCm39) |
C305S |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,653,978 (GRCm39) |
Y844H |
possibly damaging |
Het |
Mgat5b |
A |
G |
11: 116,838,203 (GRCm39) |
R281G |
probably benign |
Het |
Mon1b |
T |
G |
8: 114,368,589 (GRCm39) |
C497G |
probably damaging |
Het |
Mybbp1a |
A |
T |
11: 72,336,043 (GRCm39) |
H452L |
probably benign |
Het |
Mybl2 |
A |
G |
2: 162,917,616 (GRCm39) |
T41A |
probably damaging |
Het |
Ncoa5 |
A |
G |
2: 164,843,623 (GRCm39) |
V540A |
probably damaging |
Het |
Nup93 |
T |
A |
8: 95,019,315 (GRCm39) |
V47E |
possibly damaging |
Het |
Or10a4 |
A |
T |
7: 106,696,977 (GRCm39) |
M102L |
probably benign |
Het |
Or5j3 |
A |
G |
2: 86,129,080 (GRCm39) |
M307V |
probably null |
Het |
Orc6 |
T |
A |
8: 86,031,914 (GRCm39) |
C100S |
possibly damaging |
Het |
Otogl |
G |
T |
10: 107,649,826 (GRCm39) |
Y1176* |
probably null |
Het |
Patj |
A |
T |
4: 98,301,264 (GRCm39) |
D183V |
probably damaging |
Het |
Pik3r3 |
A |
G |
4: 116,079,514 (GRCm39) |
T4A |
probably damaging |
Het |
Pla2g4d |
G |
A |
2: 120,100,631 (GRCm39) |
|
probably benign |
Het |
Pla2r1 |
A |
G |
2: 60,250,601 (GRCm39) |
I1407T |
probably benign |
Het |
Pramel13 |
A |
T |
4: 144,119,606 (GRCm39) |
C320* |
probably null |
Het |
Prex2 |
A |
T |
1: 11,256,981 (GRCm39) |
H1231L |
probably benign |
Het |
Prkca |
A |
G |
11: 107,874,772 (GRCm39) |
V390A |
probably damaging |
Het |
Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
Rec8 |
T |
A |
14: 55,856,253 (GRCm39) |
N37K |
probably damaging |
Het |
Rnf207 |
C |
T |
4: 152,397,672 (GRCm39) |
E361K |
probably benign |
Het |
Serpina3f |
T |
A |
12: 104,183,699 (GRCm39) |
L187Q |
probably damaging |
Het |
Skint11 |
A |
T |
4: 114,051,978 (GRCm39) |
T109S |
probably damaging |
Het |
Slc7a8 |
A |
G |
14: 54,962,306 (GRCm39) |
S443P |
probably damaging |
Het |
Slc8b1 |
T |
A |
5: 120,659,147 (GRCm39) |
F197Y |
probably benign |
Het |
Sox2 |
T |
C |
3: 34,704,568 (GRCm39) |
Y2H |
probably damaging |
Het |
Speg |
T |
A |
1: 75,387,193 (GRCm39) |
|
probably benign |
Het |
Tlr3 |
T |
C |
8: 45,853,874 (GRCm39) |
N149D |
probably benign |
Het |
Trim60 |
A |
C |
8: 65,454,116 (GRCm39) |
D44E |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,657 (GRCm39) |
Y272C |
probably damaging |
Het |
Vmn1r4 |
T |
A |
6: 56,933,738 (GRCm39) |
Y81N |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,889 (GRCm39) |
C808S |
probably benign |
Het |
Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
Zfp672 |
T |
C |
11: 58,206,921 (GRCm39) |
T467A |
possibly damaging |
Het |
Zfp985 |
A |
T |
4: 147,668,407 (GRCm39) |
Q425L |
possibly damaging |
Het |
|
Other mutations in Dstyk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00950:Dstyk
|
APN |
1 |
132,387,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01753:Dstyk
|
APN |
1 |
132,390,677 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Dstyk
|
APN |
1 |
132,377,664 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02175:Dstyk
|
APN |
1 |
132,377,129 (GRCm39) |
nonsense |
probably null |
|
IGL02721:Dstyk
|
APN |
1 |
132,377,054 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03194:Dstyk
|
APN |
1 |
132,384,054 (GRCm39) |
splice site |
probably benign |
|
PIT4305001:Dstyk
|
UTSW |
1 |
132,383,634 (GRCm39) |
nonsense |
probably null |
|
PIT4791001:Dstyk
|
UTSW |
1 |
132,377,665 (GRCm39) |
missense |
probably benign |
0.00 |
R0135:Dstyk
|
UTSW |
1 |
132,390,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Dstyk
|
UTSW |
1 |
132,384,602 (GRCm39) |
splice site |
probably benign |
|
R0399:Dstyk
|
UTSW |
1 |
132,380,818 (GRCm39) |
splice site |
probably benign |
|
R0781:Dstyk
|
UTSW |
1 |
132,381,063 (GRCm39) |
splice site |
probably benign |
|
R1110:Dstyk
|
UTSW |
1 |
132,381,063 (GRCm39) |
splice site |
probably benign |
|
R1138:Dstyk
|
UTSW |
1 |
132,391,224 (GRCm39) |
missense |
probably benign |
0.00 |
R1300:Dstyk
|
UTSW |
1 |
132,377,651 (GRCm39) |
missense |
probably benign |
0.02 |
R1330:Dstyk
|
UTSW |
1 |
132,377,618 (GRCm39) |
missense |
probably benign |
0.25 |
R1509:Dstyk
|
UTSW |
1 |
132,384,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Dstyk
|
UTSW |
1 |
132,361,832 (GRCm39) |
splice site |
probably benign |
|
R1762:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1785:Dstyk
|
UTSW |
1 |
132,384,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1829:Dstyk
|
UTSW |
1 |
132,377,333 (GRCm39) |
missense |
probably benign |
0.06 |
R2031:Dstyk
|
UTSW |
1 |
132,380,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R2124:Dstyk
|
UTSW |
1 |
132,380,857 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2132:Dstyk
|
UTSW |
1 |
132,377,222 (GRCm39) |
missense |
probably null |
|
R2143:Dstyk
|
UTSW |
1 |
132,391,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Dstyk
|
UTSW |
1 |
132,391,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Dstyk
|
UTSW |
1 |
132,391,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R3804:Dstyk
|
UTSW |
1 |
132,377,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4277:Dstyk
|
UTSW |
1 |
132,383,151 (GRCm39) |
splice site |
probably null |
|
R4504:Dstyk
|
UTSW |
1 |
132,362,127 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4674:Dstyk
|
UTSW |
1 |
132,391,128 (GRCm39) |
missense |
probably benign |
0.42 |
R4697:Dstyk
|
UTSW |
1 |
132,377,225 (GRCm39) |
missense |
probably damaging |
0.98 |
R4828:Dstyk
|
UTSW |
1 |
132,361,875 (GRCm39) |
missense |
probably benign |
|
R4940:Dstyk
|
UTSW |
1 |
132,380,844 (GRCm39) |
missense |
probably damaging |
0.96 |
R5029:Dstyk
|
UTSW |
1 |
132,377,062 (GRCm39) |
missense |
probably benign |
0.01 |
R5678:Dstyk
|
UTSW |
1 |
132,381,029 (GRCm39) |
missense |
probably benign |
|
R5900:Dstyk
|
UTSW |
1 |
132,384,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Dstyk
|
UTSW |
1 |
132,381,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R5973:Dstyk
|
UTSW |
1 |
132,362,149 (GRCm39) |
missense |
probably damaging |
0.99 |
R6217:Dstyk
|
UTSW |
1 |
132,387,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6381:Dstyk
|
UTSW |
1 |
132,384,503 (GRCm39) |
splice site |
probably null |
|
R6429:Dstyk
|
UTSW |
1 |
132,377,542 (GRCm39) |
nonsense |
probably null |
|
R7038:Dstyk
|
UTSW |
1 |
132,381,847 (GRCm39) |
missense |
probably benign |
0.32 |
R7240:Dstyk
|
UTSW |
1 |
132,381,861 (GRCm39) |
missense |
probably benign |
0.02 |
R7411:Dstyk
|
UTSW |
1 |
132,345,404 (GRCm39) |
missense |
probably benign |
0.01 |
R7714:Dstyk
|
UTSW |
1 |
132,384,614 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8805:Dstyk
|
UTSW |
1 |
132,361,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Dstyk
|
UTSW |
1 |
132,362,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R9785:Dstyk
|
UTSW |
1 |
132,381,038 (GRCm39) |
missense |
probably damaging |
0.96 |
R9789:Dstyk
|
UTSW |
1 |
132,381,859 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGATCTGGTCCAGACATGCTCTTTC -3'
(R):5'- CTTGGAATGCAGAGCCTCTCAGTATC -3'
Sequencing Primer
(F):5'- TCTTAGTCACAAGGACTGTCAG -3'
(R):5'- tgtacatatacataAGGCAGTAAAGC -3'
|
Posted On |
2014-05-09 |