Incidental Mutation 'R4697:Dstyk'
| ID |
355743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dstyk
|
| Ensembl Gene |
ENSMUSG00000042046 |
| Gene Name |
dual serine/threonine and tyrosine protein kinase |
| Synonyms |
C430014H23Rik, A930019K20Rik |
| MMRRC Submission |
041947-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
R4697 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132417555-132466958 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132449487 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 277
(F277Y)
|
| 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: F277Y
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: F277Y
| 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 |
unknown
Transcript: ENSMUST00000187092
AA Change: F30Y
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188389
AA Change: F277Y
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: F277Y
| 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 |
0.2369 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (75/78) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
T |
A |
7: 118,791,448 (GRCm38) |
I455N |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,638,284 (GRCm38) |
M1T |
probably null |
Het |
| Aatf |
T |
A |
11: 84,449,138 (GRCm38) |
D449V |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,721,944 (GRCm38) |
|
probably benign |
Het |
| Bicc1 |
T |
A |
10: 70,953,484 (GRCm38) |
I366F |
possibly damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,649,749 (GRCm38) |
S184P |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,525,485 (GRCm38) |
V401A |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 121,873,753 (GRCm38) |
T540A |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,791,684 (GRCm38) |
E966* |
probably null |
Het |
| Dpp7 |
A |
G |
2: 25,354,919 (GRCm38) |
Y209H |
probably benign |
Het |
| Dtx1 |
A |
T |
5: 120,694,408 (GRCm38) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,047,060 (GRCm38) |
|
noncoding transcript |
Het |
| Ednra |
T |
C |
8: 77,664,995 (GRCm38) |
H422R |
probably benign |
Het |
| Erlec1 |
T |
A |
11: 30,952,640 (GRCm38) |
I67F |
probably benign |
Het |
| Fam161b |
G |
A |
12: 84,348,558 (GRCm38) |
|
probably benign |
Het |
| Gata5 |
A |
T |
2: 180,327,379 (GRCm38) |
C345* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,328,274 (GRCm38) |
V47A |
probably damaging |
Het |
| Gm9762 |
T |
A |
3: 78,966,550 (GRCm38) |
|
noncoding transcript |
Het |
| Gnas |
A |
T |
2: 174,298,080 (GRCm38) |
D14V |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 31,017,329 (GRCm38) |
S53G |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,548,466 (GRCm38) |
V527M |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,694,187 (GRCm38) |
L281* |
probably null |
Het |
| Kif16b |
T |
G |
2: 142,690,694 (GRCm38) |
Y1175S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,576,846 (GRCm38) |
S204P |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,778,734 (GRCm38) |
I320N |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,708,147 (GRCm38) |
R693Q |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 71,025,326 (GRCm38) |
K62E |
possibly damaging |
Het |
| Mlc1 |
A |
G |
15: 88,974,777 (GRCm38) |
C102R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,857,361 (GRCm38) |
I1348T |
unknown |
Het |
| Myh7b |
A |
G |
2: 155,629,322 (GRCm38) |
E1130G |
probably damaging |
Het |
| Nat8f4 |
T |
C |
6: 85,901,386 (GRCm38) |
T52A |
probably benign |
Het |
| Nxpe2 |
C |
A |
9: 48,320,521 (GRCm38) |
V379L |
probably benign |
Het |
| Or10ad1c |
G |
A |
15: 98,186,868 (GRCm38) |
R310W |
probably damaging |
Het |
| Or4c1 |
C |
A |
2: 89,302,902 (GRCm38) |
S230I |
possibly damaging |
Het |
| Or4c1 |
T |
A |
2: 89,302,903 (GRCm38) |
S230C |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,313,717 (GRCm38) |
D189E |
probably benign |
Het |
| Or5b12 |
C |
T |
19: 12,919,934 (GRCm38) |
C125Y |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,717,208 (GRCm38) |
Y756F |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,959,241 (GRCm38) |
Y284N |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,126,347 (GRCm38) |
V1367A |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,375,071 (GRCm38) |
N484K |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 78,961,171 (GRCm38) |
V572I |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,787,183 (GRCm38) |
S1005G |
probably benign |
Het |
| Radil |
G |
T |
5: 142,486,801 (GRCm38) |
D951E |
probably benign |
Het |
| Ripk1 |
C |
T |
13: 34,027,942 (GRCm38) |
R352* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,212,747 (GRCm38) |
F4081L |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,315,085 (GRCm38) |
V11A |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,934,587 (GRCm38) |
F536I |
probably damaging |
Het |
| Slc45a1 |
A |
G |
4: 150,638,284 (GRCm38) |
L381P |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,052,641 (GRCm38) |
P71L |
probably benign |
Het |
| Spns1 |
T |
A |
7: 126,377,037 (GRCm38) |
D14V |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 95,986,018 (GRCm38) |
I417F |
possibly damaging |
Het |
| Tas2r113 |
T |
A |
6: 132,893,516 (GRCm38) |
M169K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,705,681 (GRCm38) |
N567K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,522,240 (GRCm38) |
K1543E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,395,461 (GRCm38) |
R76Q |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,853,791 (GRCm38) |
V1340A |
probably benign |
Het |
| Tspan18 |
A |
T |
2: 93,312,030 (GRCm38) |
|
probably null |
Het |
| Txndc11 |
C |
T |
16: 11,084,314 (GRCm38) |
V679I |
probably damaging |
Het |
| Usf1 |
G |
T |
1: 171,416,964 (GRCm38) |
G144V |
possibly damaging |
Het |
| Vmn1r59 |
T |
C |
7: 5,454,452 (GRCm38) |
Y103C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,741,826 (GRCm38) |
I713F |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 87,037,960 (GRCm38) |
I850F |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 25,855,363 (GRCm38) |
R676H |
probably benign |
Het |
| Zfp867 |
G |
A |
11: 59,463,661 (GRCm38) |
R281W |
probably damaging |
Het |
| Zfp939 |
T |
C |
7: 39,472,942 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Dstyk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Dstyk
|
APN |
1 |
132,459,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01753:Dstyk
|
APN |
1 |
132,462,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02156:Dstyk
|
APN |
1 |
132,449,926 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02175:Dstyk
|
APN |
1 |
132,449,391 (GRCm38) |
nonsense |
probably null |
|
|
IGL02721:Dstyk
|
APN |
1 |
132,449,316 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03194:Dstyk
|
APN |
1 |
132,456,316 (GRCm38) |
splice site |
probably benign |
|
|
PIT4305001:Dstyk
|
UTSW |
1 |
132,455,896 (GRCm38) |
nonsense |
probably null |
|
|
PIT4791001:Dstyk
|
UTSW |
1 |
132,449,927 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0135:Dstyk
|
UTSW |
1 |
132,462,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0309:Dstyk
|
UTSW |
1 |
132,456,864 (GRCm38) |
splice site |
probably benign |
|
|
R0399:Dstyk
|
UTSW |
1 |
132,453,080 (GRCm38) |
splice site |
probably benign |
|
|
R0781:Dstyk
|
UTSW |
1 |
132,453,325 (GRCm38) |
splice site |
probably benign |
|
|
R1110:Dstyk
|
UTSW |
1 |
132,453,325 (GRCm38) |
splice site |
probably benign |
|
|
R1138:Dstyk
|
UTSW |
1 |
132,463,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1300:Dstyk
|
UTSW |
1 |
132,449,913 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1330:Dstyk
|
UTSW |
1 |
132,449,880 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1509:Dstyk
|
UTSW |
1 |
132,456,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1667:Dstyk
|
UTSW |
1 |
132,456,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1728:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1729:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1730:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1739:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1757:Dstyk
|
UTSW |
1 |
132,434,094 (GRCm38) |
splice site |
probably benign |
|
|
R1762:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1783:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1784:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1785:Dstyk
|
UTSW |
1 |
132,456,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1829:Dstyk
|
UTSW |
1 |
132,449,595 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2031:Dstyk
|
UTSW |
1 |
132,453,191 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2124:Dstyk
|
UTSW |
1 |
132,453,119 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2132:Dstyk
|
UTSW |
1 |
132,449,484 (GRCm38) |
missense |
probably null |
|
|
R2143:Dstyk
|
UTSW |
1 |
132,463,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Dstyk
|
UTSW |
1 |
132,463,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2145:Dstyk
|
UTSW |
1 |
132,463,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3804:Dstyk
|
UTSW |
1 |
132,449,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4277:Dstyk
|
UTSW |
1 |
132,455,413 (GRCm38) |
splice site |
probably null |
|
|
R4504:Dstyk
|
UTSW |
1 |
132,434,389 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4674:Dstyk
|
UTSW |
1 |
132,463,390 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4828:Dstyk
|
UTSW |
1 |
132,434,137 (GRCm38) |
missense |
probably benign |
|
|
R4940:Dstyk
|
UTSW |
1 |
132,453,106 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5029:Dstyk
|
UTSW |
1 |
132,449,324 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5678:Dstyk
|
UTSW |
1 |
132,453,291 (GRCm38) |
missense |
probably benign |
|
|
R5900:Dstyk
|
UTSW |
1 |
132,456,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5935:Dstyk
|
UTSW |
1 |
132,454,137 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5973:Dstyk
|
UTSW |
1 |
132,434,411 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6217:Dstyk
|
UTSW |
1 |
132,459,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6381:Dstyk
|
UTSW |
1 |
132,456,765 (GRCm38) |
splice site |
probably null |
|
|
R6429:Dstyk
|
UTSW |
1 |
132,449,804 (GRCm38) |
nonsense |
probably null |
|
|
R7038:Dstyk
|
UTSW |
1 |
132,454,109 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7240:Dstyk
|
UTSW |
1 |
132,454,123 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7411:Dstyk
|
UTSW |
1 |
132,417,666 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7714:Dstyk
|
UTSW |
1 |
132,456,876 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8805:Dstyk
|
UTSW |
1 |
132,434,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9564:Dstyk
|
UTSW |
1 |
132,434,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9785:Dstyk
|
UTSW |
1 |
132,453,300 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9789:Dstyk
|
UTSW |
1 |
132,454,121 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGACAAAGATGGGTTCTGTCC -3'
(R):5'- TCCACCAACATGCTCTGAGC -3'
Sequencing Primer
(F):5'- ATGAAGTGCTGATCTGACCC -3'
(R):5'- AGCTTTACAGTCCTGGTCAGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation