Incidental Mutation 'R7240:Dstyk'
| ID |
563121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dstyk
|
| Ensembl Gene |
ENSMUSG00000042046 |
| Gene Name |
dual serine/threonine and tyrosine protein kinase |
| Synonyms |
C430014H23Rik, A930019K20Rik |
| MMRRC Submission |
045347-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R7240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132417555-132466958 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132454123 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 538
(M538I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
| AlphaFold |
Q6XUX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045110
AA Change: M538I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: M538I
| 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 |
probably benign
Transcript: ENSMUST00000187092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188389
AA Change: M538I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: M538I
| 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 |
0.1078 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,605,075 (GRCm38) |
I59T |
unknown |
Het |
| Aspm |
C |
T |
1: 139,478,651 (GRCm38) |
Q1759* |
probably null |
Het |
| Atn1 |
A |
T |
6: 124,747,898 (GRCm38) |
I124K |
unknown |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,397,572 (GRCm38) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,944,939 (GRCm38) |
V879M |
probably benign |
Het |
| Cd300c |
A |
G |
11: 114,959,783 (GRCm38) |
C65R |
possibly damaging |
Het |
| Cd69 |
A |
T |
6: 129,270,042 (GRCm38) |
S112T |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,893,407 (GRCm38) |
T534A |
probably benign |
Het |
| Cdk5rap2 |
T |
A |
4: 70,291,908 (GRCm38) |
D701V |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,623,874 (GRCm38) |
H157R |
possibly damaging |
Het |
| Dpf1 |
T |
A |
7: 29,311,627 (GRCm38) |
F150L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,283,109 (GRCm38) |
L689P |
probably damaging |
Het |
| E4f1 |
T |
A |
17: 24,444,325 (GRCm38) |
I669F |
probably damaging |
Het |
| Gm7138 |
T |
C |
10: 77,776,755 (GRCm38) |
T64A |
unknown |
Het |
| Gnai2 |
A |
C |
9: 107,615,773 (GRCm38) |
D310E |
|
Het |
| Iqca |
A |
G |
1: 90,070,550 (GRCm38) |
V567A |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,759,839 (GRCm38) |
N249K |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,234,650 (GRCm38) |
V1093A |
possibly damaging |
Het |
| Mfap3 |
A |
G |
11: 57,529,756 (GRCm38) |
K188E |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,794,545 (GRCm38) |
V431D |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,576,471 (GRCm38) |
T792A |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,745,741 (GRCm38) |
H592R |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,208,841 (GRCm38) |
C202R |
probably benign |
Het |
| Olfr13 |
A |
G |
6: 43,174,501 (GRCm38) |
K172E |
probably benign |
Het |
| Olfr418 |
T |
C |
1: 173,270,994 (GRCm38) |
I273T |
probably benign |
Het |
| Olfr476 |
T |
C |
7: 107,968,188 (GRCm38) |
S264P |
probably benign |
Het |
| Olfr497 |
A |
G |
7: 108,422,933 (GRCm38) |
M121V |
probably damaging |
Het |
| Olfr922 |
A |
G |
9: 38,815,713 (GRCm38) |
D70G |
probably benign |
Het |
| Olfr938 |
A |
T |
9: 39,078,610 (GRCm38) |
M45K |
probably damaging |
Het |
| Parpbp |
G |
A |
10: 88,124,940 (GRCm38) |
T228I |
probably damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,763,703 (GRCm38) |
V609M |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,270,349 (GRCm38) |
N543S |
probably damaging |
Het |
| Puf60 |
A |
G |
15: 76,072,539 (GRCm38) |
|
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,852,896 (GRCm38) |
D184E |
probably damaging |
Het |
| Rnase9 |
A |
C |
14: 51,038,979 (GRCm38) |
S181A |
probably benign |
Het |
| Rnpc3 |
T |
A |
3: 113,616,831 (GRCm38) |
R270S |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,431,548 (GRCm38) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 29,052,015 (GRCm38) |
S3715G |
possibly damaging |
Het |
| Scn3a |
A |
T |
2: 65,469,042 (GRCm38) |
D1373E |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,340,602 (GRCm38) |
I31S |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 125,469,860 (GRCm38) |
F712L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,161,511 (GRCm38) |
V529A |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,458,803 (GRCm38) |
N58S |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,234,804 (GRCm38) |
T350I |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,307,678 (GRCm38) |
C28R |
probably benign |
Het |
| Trbv21 |
A |
T |
6: 41,202,958 (GRCm38) |
K69N |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,935,876 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,848,990 (GRCm38) |
V10796A |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,911,661 (GRCm38) |
T4407A |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,451,963 (GRCm38) |
H726R |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,044,449 (GRCm38) |
S80P |
probably benign |
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 |
|
R4697:Dstyk
|
UTSW |
1 |
132,449,487 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TTGTTTGGGCAAGCAGAAGG -3'
(R):5'- AGGCTGAGTCTTTACTGTCTTTAC -3'
Sequencing Primer
(F):5'- CTTGCTATATAGAACAGGCTGGCC -3'
(R):5'- ACCTAATGATGTAGAATTTTGTGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation