Incidental Mutation 'IGL03194:Dstyk'
| ID |
412759 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dstyk
|
| Ensembl Gene |
ENSMUSG00000042046 |
| Gene Name |
dual serine/threonine and tyrosine protein kinase |
| Synonyms |
A930019K20Rik, C430014H23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
IGL03194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 132384054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
| AlphaFold |
Q6XUX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045110
|
| SMART Domains |
Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
| 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 |
noncoding transcript
Transcript: ENSMUST00000188006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188389
|
| SMART Domains |
Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
C |
8: 84,460,647 (GRCm39) |
S64G |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,522 (GRCm39) |
V306A |
probably damaging |
Het |
| Clec4b2 |
G |
A |
6: 123,177,946 (GRCm39) |
G87D |
probably benign |
Het |
| Disp2 |
A |
T |
2: 118,618,110 (GRCm39) |
R219W |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,314,048 (GRCm39) |
D317E |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,240 (GRCm39) |
S451G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,201,821 (GRCm39) |
T418S |
probably benign |
Het |
| Fto |
G |
A |
8: 92,136,415 (GRCm39) |
D228N |
probably damaging |
Het |
| Gins4 |
A |
T |
8: 23,724,762 (GRCm39) |
|
probably benign |
Het |
| Gm10220 |
T |
A |
5: 26,326,231 (GRCm39) |
R40W |
probably damaging |
Het |
| Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
T |
G |
11: 48,786,364 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,132,190 (GRCm39) |
M59T |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,404,554 (GRCm39) |
V1989D |
probably damaging |
Het |
| Ltc4s |
T |
C |
11: 50,127,398 (GRCm39) |
*151W |
probably null |
Het |
| Map3k21 |
A |
G |
8: 126,650,801 (GRCm39) |
T268A |
possibly damaging |
Het |
| Mdp1 |
A |
G |
14: 55,896,444 (GRCm39) |
L164P |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,483,388 (GRCm39) |
T650A |
probably damaging |
Het |
| Mss51 |
T |
C |
14: 20,535,165 (GRCm39) |
N202D |
probably benign |
Het |
| Mtus2 |
G |
A |
5: 148,043,913 (GRCm39) |
A834T |
probably damaging |
Het |
| Nalf1 |
T |
C |
8: 9,282,975 (GRCm39) |
D358G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,257,788 (GRCm39) |
M585T |
possibly damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Npvf |
A |
C |
6: 50,627,878 (GRCm39) |
D180E |
possibly damaging |
Het |
| Nup188 |
A |
T |
2: 30,194,346 (GRCm39) |
Y173F |
possibly damaging |
Het |
| Oas3 |
C |
A |
5: 120,897,018 (GRCm39) |
A868S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,381,531 (GRCm39) |
T1086A |
probably damaging |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Rara |
T |
C |
11: 98,862,490 (GRCm39) |
M297T |
possibly damaging |
Het |
| Tmc1 |
T |
C |
19: 20,782,017 (GRCm39) |
E567G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,914,921 (GRCm39) |
Q1970* |
probably null |
Het |
| Usp11 |
T |
C |
X: 20,578,656 (GRCm39) |
I162T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,282,173 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,521,359 (GRCm39) |
E827G |
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 |
|
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 |
|
R9785:Dstyk
|
UTSW |
1 |
132,381,038 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9789:Dstyk
|
UTSW |
1 |
132,381,859 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation