Incidental Mutation 'PIT4791001:Dstyk'
ID |
556951 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4791001 (G1)
|
Quality Score |
186.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132377665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 424
(T424A)
|
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: T424A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000035358 Gene: ENSMUSG00000042046 AA Change: T424A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188389
AA Change: T424A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139652 Gene: ENSMUSG00000042046 AA Change: T424A
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: 93.5%
- 3x: 90.8%
- 10x: 83.3%
- 20x: 68.6%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
G |
A |
15: 72,993,089 (GRCm39) |
T472I |
possibly damaging |
Het |
Ambp |
T |
A |
4: 63,072,298 (GRCm39) |
|
probably benign |
Het |
As3mt |
T |
A |
19: 46,708,788 (GRCm39) |
F261I |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,458,579 (GRCm39) |
L561P |
probably damaging |
Het |
Cnr2 |
A |
G |
4: 135,644,263 (GRCm39) |
T114A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,408,178 (GRCm39) |
Y1885H |
probably damaging |
Het |
Dcn |
A |
G |
10: 97,343,604 (GRCm39) |
N188S |
probably benign |
Het |
Dennd6b |
A |
C |
15: 89,070,955 (GRCm39) |
|
probably null |
Het |
Gabrr3 |
A |
G |
16: 59,250,298 (GRCm39) |
|
probably null |
Het |
Gnai3 |
A |
G |
3: 108,025,621 (GRCm39) |
S153P |
probably benign |
Het |
Igkv2-112 |
T |
A |
6: 68,197,599 (GRCm39) |
S90R |
probably damaging |
Het |
Lxn |
T |
C |
3: 67,365,979 (GRCm39) |
D173G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,342,307 (GRCm39) |
I1600N |
probably damaging |
Het |
Myof |
A |
T |
19: 37,971,406 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
T |
C |
17: 90,762,931 (GRCm39) |
|
probably benign |
Het |
Oaz3 |
A |
G |
3: 94,340,852 (GRCm39) |
Y232H |
unknown |
Het |
Or5aq1b |
A |
T |
2: 86,902,046 (GRCm39) |
M144K |
possibly damaging |
Het |
Pkdcc |
C |
T |
17: 83,527,577 (GRCm39) |
R252* |
probably null |
Het |
Plcl1 |
A |
G |
1: 55,741,090 (GRCm39) |
N907S |
probably benign |
Het |
Plscr1 |
T |
A |
9: 92,145,150 (GRCm39) |
Y53* |
probably null |
Het |
Pm20d2 |
T |
C |
4: 33,174,756 (GRCm39) |
T377A |
probably benign |
Het |
Ptchd3 |
T |
A |
11: 121,722,875 (GRCm39) |
V321D |
probably damaging |
Het |
Ranbp3l |
T |
C |
15: 9,060,829 (GRCm39) |
I366T |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,087,660 (GRCm39) |
E737G |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,853,975 (GRCm39) |
F326S |
possibly damaging |
Het |
Scn1a |
T |
C |
2: 66,103,626 (GRCm39) |
E1878G |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,552,072 (GRCm39) |
V872A |
possibly damaging |
Het |
Sugp2 |
C |
T |
8: 70,713,195 (GRCm39) |
Q1054* |
probably null |
Het |
Syne3 |
T |
C |
12: 104,929,438 (GRCm39) |
T261A |
probably benign |
Het |
Tgif2 |
T |
C |
2: 156,695,232 (GRCm39) |
S126P |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,319,386 (GRCm39) |
V457A |
possibly damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,113,635 (GRCm39) |
I299V |
probably benign |
Het |
Tnks1bp1 |
A |
G |
2: 84,892,902 (GRCm39) |
E943G |
probably benign |
Het |
Tpd52l2 |
T |
A |
2: 181,141,681 (GRCm39) |
F21L |
probably benign |
Het |
Tpm2 |
A |
G |
4: 43,519,263 (GRCm39) |
L176P |
probably benign |
Het |
Trim34a |
C |
A |
7: 103,909,691 (GRCm39) |
T293K |
probably benign |
Het |
Ttc23 |
A |
T |
7: 67,312,135 (GRCm39) |
D14V |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,236,706 (GRCm39) |
E108G |
probably benign |
Het |
Txndc15 |
C |
T |
13: 55,869,507 (GRCm39) |
A220V |
probably benign |
Het |
Vmn1r183 |
A |
G |
7: 23,754,266 (GRCm39) |
Q23R |
probably damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,028 (GRCm39) |
V279A |
probably damaging |
Het |
Vmo1 |
A |
C |
11: 70,404,661 (GRCm39) |
C113W |
probably damaging |
Het |
Zfp984 |
A |
G |
4: 147,840,603 (GRCm39) |
S83P |
probably benign |
Het |
Zik1 |
A |
C |
7: 10,226,256 (GRCm39) |
L37R |
probably benign |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTACAGAACCGCCTAGTGGATG -3'
(R):5'- AGAGGCCATCTCATCTCAGTG -3'
Sequencing Primer
(F):5'- AGCCAAGGCCCTGAATGTG -3'
(R):5'- TCATCTCAGTGACTAAAGGTGCC -3'
|
Posted On |
2019-06-07 |