Incidental Mutation 'R6429:Dstyk'
ID |
518409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dstyk
|
Ensembl Gene |
ENSMUSG00000042046 |
Gene Name |
dual serine/threonine and tyrosine protein kinase |
Synonyms |
A930019K20Rik, C430014H23Rik |
MMRRC Submission |
044567-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R6429 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 132377542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 383
(Q383*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
AlphaFold |
Q6XUX1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045110
AA Change: Q383*
|
SMART Domains |
Protein: ENSMUSP00000035358 Gene: ENSMUSG00000042046 AA Change: Q383*
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 null
Transcript: ENSMUST00000187092
AA Change: Q136*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188006
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188389
AA Change: Q383*
|
SMART Domains |
Protein: ENSMUSP00000139652 Gene: ENSMUSG00000042046 AA Change: Q383*
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
A |
5: 114,366,652 (GRCm39) |
E1565K |
probably damaging |
Het |
Amy1 |
T |
C |
3: 113,363,158 (GRCm39) |
N63S |
probably damaging |
Het |
Arhgef15 |
G |
T |
11: 68,838,622 (GRCm39) |
N591K |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,511,910 (GRCm39) |
S34P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,081,298 (GRCm39) |
D127G |
probably damaging |
Het |
Ccdc87 |
T |
A |
19: 4,891,263 (GRCm39) |
V585E |
probably benign |
Het |
Cemip2 |
T |
C |
19: 21,779,272 (GRCm39) |
C361R |
probably benign |
Het |
Cul2 |
T |
C |
18: 3,421,345 (GRCm39) |
I223T |
probably damaging |
Het |
Dgkq |
C |
T |
5: 108,801,574 (GRCm39) |
V495M |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,295,330 (GRCm39) |
I570T |
possibly damaging |
Het |
Emilin2 |
C |
A |
17: 71,617,951 (GRCm39) |
|
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,406,393 (GRCm39) |
I1163M |
probably damaging |
Het |
Fryl |
C |
T |
5: 73,248,094 (GRCm39) |
E1008K |
possibly damaging |
Het |
Gm35315 |
A |
T |
5: 110,226,525 (GRCm39) |
Y305N |
possibly damaging |
Het |
Grhl3 |
T |
A |
4: 135,284,507 (GRCm39) |
D195V |
probably damaging |
Het |
Ift56 |
T |
A |
6: 38,375,248 (GRCm39) |
S250T |
possibly damaging |
Het |
Il33 |
T |
C |
19: 29,929,400 (GRCm39) |
F41S |
probably benign |
Het |
Il4 |
A |
G |
11: 53,504,736 (GRCm39) |
S15P |
possibly damaging |
Het |
Inf2 |
C |
T |
12: 112,570,690 (GRCm39) |
P410S |
probably benign |
Het |
Kalrn |
T |
A |
16: 34,152,534 (GRCm39) |
D349V |
possibly damaging |
Het |
Krt4 |
A |
G |
15: 101,831,229 (GRCm39) |
M224T |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,291,631 (GRCm39) |
S3516N |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,295,387 (GRCm39) |
|
probably null |
Het |
Msr1 |
G |
A |
8: 40,068,858 (GRCm39) |
P213S |
probably damaging |
Het |
Nptx1 |
G |
T |
11: 119,435,547 (GRCm39) |
C256* |
probably null |
Het |
Nr1d1 |
T |
C |
11: 98,662,840 (GRCm39) |
Y51C |
probably damaging |
Het |
Or4c11c |
G |
A |
2: 88,661,869 (GRCm39) |
R136Q |
probably benign |
Het |
Panx3 |
T |
C |
9: 37,572,461 (GRCm39) |
D363G |
probably damaging |
Het |
Pira13 |
A |
T |
7: 3,825,345 (GRCm39) |
H432Q |
possibly damaging |
Het |
Prkag1 |
A |
G |
15: 98,712,404 (GRCm39) |
F143L |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,272,478 (GRCm39) |
K72R |
possibly damaging |
Het |
Pvrig-ps |
A |
G |
5: 138,340,312 (GRCm39) |
T28A |
probably benign |
Het |
Rhod |
C |
T |
19: 4,476,133 (GRCm39) |
C206Y |
probably benign |
Het |
Rngtt |
C |
A |
4: 33,320,606 (GRCm39) |
S51* |
probably null |
Het |
Rreb1 |
T |
G |
13: 38,116,105 (GRCm39) |
S1155A |
probably benign |
Het |
Scn9a |
A |
C |
2: 66,357,307 (GRCm39) |
I998S |
possibly damaging |
Het |
Sfmbt1 |
T |
A |
14: 30,495,868 (GRCm39) |
F50L |
probably damaging |
Het |
Six4 |
A |
T |
12: 73,150,247 (GRCm39) |
V766D |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,206,135 (GRCm39) |
I421T |
probably damaging |
Het |
Son |
T |
A |
16: 91,455,054 (GRCm39) |
M1267K |
probably benign |
Het |
Styk1 |
T |
A |
6: 131,287,027 (GRCm39) |
D156V |
possibly damaging |
Het |
Supt3 |
A |
G |
17: 45,430,030 (GRCm39) |
E361G |
probably benign |
Het |
Tbx3 |
T |
A |
5: 119,812,256 (GRCm39) |
Y185* |
probably null |
Het |
Trpm1 |
A |
T |
7: 63,918,252 (GRCm39) |
T531S |
probably benign |
Het |
Tspan32 |
T |
A |
7: 142,572,479 (GRCm39) |
W172R |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,559,318 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
T |
A |
7: 85,208,276 (GRCm39) |
I734F |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,243,175 (GRCm39) |
T618A |
probably benign |
Het |
Wac |
T |
A |
18: 7,920,163 (GRCm39) |
V339E |
probably damaging |
Het |
Wrn |
G |
A |
8: 33,833,024 (GRCm39) |
T156M |
probably damaging |
Het |
Zeb1 |
T |
A |
18: 5,770,498 (GRCm39) |
C884S |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,984,214 (GRCm39) |
|
probably benign |
Het |
Zmpste24 |
A |
G |
4: 120,952,867 (GRCm39) |
V10A |
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 |
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 |
|
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'- TGACCAGGACTGTAAAGCTCAG -3'
(R):5'- AAGAGAGTCCTAGAGTGCCAGC -3'
Sequencing Primer
(F):5'- CTCAGAGCATGTTGGTGGAGC -3'
(R):5'- GCACTCCAGAAGCTCGCTAG -3'
|
Posted On |
2018-05-24 |