Incidental Mutation 'R9785:Dstyk'
ID |
734266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dstyk
|
Ensembl Gene |
ENSMUSG00000042046 |
Gene Name |
dual serine/threonine and tyrosine protein kinase |
Synonyms |
A930019K20Rik, C430014H23Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R9785 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 132381038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 511
(T511I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
AlphaFold |
Q6XUX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045110
AA Change: T511I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035358 Gene: ENSMUSG00000042046 AA Change: T511I
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 damaging
Transcript: ENSMUST00000188389
AA Change: T511I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139652 Gene: ENSMUSG00000042046 AA Change: T511I
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: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
Armt1 |
T |
A |
10: 4,389,606 (GRCm39) |
W88R |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
Gabra5 |
C |
T |
7: 57,140,584 (GRCm39) |
V38I |
probably benign |
Het |
Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
Jam2 |
T |
C |
16: 84,571,397 (GRCm39) |
L8P |
unknown |
Het |
Klhdc7b |
G |
T |
15: 89,272,621 (GRCm39) |
D510Y |
probably damaging |
Het |
Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
Selenon |
C |
T |
4: 134,270,374 (GRCm39) |
G326D |
probably damaging |
Het |
Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
Srl |
A |
G |
16: 4,314,718 (GRCm39) |
V308A |
probably benign |
Het |
Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
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 |
|
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 |
R9789:Dstyk
|
UTSW |
1 |
132,381,859 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATTGTCCCTGAGAATGGAG -3'
(R):5'- CTCATTAGCATGTCCCTCAGG -3'
Sequencing Primer
(F):5'- TTGTCCCTGAGAATGGAGAAACAATC -3'
(R):5'- ATGTCCCTCAGGCAGTAGC -3'
|
Posted On |
2022-11-14 |