Incidental Mutation 'R5029:Dstyk'
| ID |
391542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dstyk
|
| Ensembl Gene |
ENSMUSG00000042046 |
| Gene Name |
dual serine/threonine and tyrosine protein kinase |
| Synonyms |
A930019K20Rik, C430014H23Rik |
| MMRRC Submission |
042620-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
R5029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132377062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 223
(V223L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
| AlphaFold |
Q6XUX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045110
AA Change: V223L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: V223L
| 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: V223L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: V223L
| 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 |
0.0686 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (61/63) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Ank |
T |
C |
15: 27,590,439 (GRCm39) |
V341A |
probably benign |
Het |
| Bnip3 |
T |
A |
7: 138,499,848 (GRCm39) |
|
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,931 (GRCm39) |
K4E |
possibly damaging |
Het |
| Cbs |
T |
A |
17: 31,834,456 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,897 (GRCm39) |
H109R |
possibly damaging |
Het |
| Cdh4 |
T |
A |
2: 179,523,742 (GRCm39) |
V440D |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,054,962 (GRCm39) |
N109S |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,114 (GRCm39) |
S695R |
probably benign |
Het |
| Defa21 |
A |
T |
8: 21,516,381 (GRCm39) |
E75V |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,093,630 (GRCm39) |
D274G |
probably null |
Het |
| Dync1h1 |
T |
A |
12: 110,584,444 (GRCm39) |
S616T |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,515,769 (GRCm39) |
I1619F |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,926,341 (GRCm39) |
Y83F |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hpx |
T |
G |
7: 105,240,971 (GRCm39) |
Y434S |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,158,981 (GRCm39) |
D451G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,879,417 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
A |
1: 17,161,615 (GRCm39) |
N349I |
possibly damaging |
Het |
| Klrg1 |
A |
G |
6: 122,259,694 (GRCm39) |
L26P |
probably benign |
Het |
| M1ap |
A |
C |
6: 82,980,813 (GRCm39) |
D233A |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,393,946 (GRCm39) |
S2762P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,489 (GRCm39) |
Q1556L |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,972,123 (GRCm39) |
D1428G |
probably damaging |
Het |
| Ndc80 |
A |
C |
17: 71,815,760 (GRCm39) |
C342G |
probably benign |
Het |
| Nxn |
A |
C |
11: 76,165,356 (GRCm39) |
Y199* |
probably null |
Het |
| Or6c206 |
T |
A |
10: 129,097,707 (GRCm39) |
N292K |
probably benign |
Het |
| Or7c19 |
C |
T |
8: 85,957,835 (GRCm39) |
A237V |
probably benign |
Het |
| Or8j3b |
A |
G |
2: 86,205,234 (GRCm39) |
I174T |
probably damaging |
Het |
| Pacs1 |
A |
G |
19: 5,192,299 (GRCm39) |
F691L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,899,864 (GRCm39) |
V232A |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,936,113 (GRCm39) |
M773K |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,723 (GRCm39) |
Y1937H |
probably damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,693,304 (GRCm39) |
T603N |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,662 (GRCm39) |
Y119C |
probably damaging |
Het |
| Saraf |
G |
T |
8: 34,628,412 (GRCm39) |
R86L |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stpg3 |
T |
C |
2: 25,104,576 (GRCm39) |
N13S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,177,273 (GRCm39) |
D50E |
possibly damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,024 (GRCm39) |
N518Y |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,719,993 (GRCm39) |
|
probably null |
Het |
| Tomm70a |
T |
A |
16: 56,942,514 (GRCm39) |
L97Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,173 (GRCm39) |
V809E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,852 (GRCm39) |
I914V |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,097 (GRCm39) |
H291Q |
probably damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably 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 |
|
R1667:Dstyk
|
UTSW |
1 |
132,384,657 (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 |
|
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'- ATGCTTGCCTTTGTATGTCACAG -3'
(R):5'- AGCTGATTATCTCCAGCTTGG -3'
Sequencing Primer
(F):5'- CAGAAGTGAGTATTAGGAACCAAGG -3'
(R):5'- CTCCAGCTTGGGTACTTTGAAAAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation