Incidental Mutation 'PIT4305001:Dstyk'
ID |
554528 |
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 # |
PIT4305001 (G1)
|
Quality Score |
197.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132345293-132394696 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 132383634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 617
(E617*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045110]
[ENSMUST00000188389]
|
AlphaFold |
Q6XUX1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045110
AA Change: E617*
|
SMART Domains |
Protein: ENSMUSP00000035358 Gene: ENSMUSG00000042046 AA Change: E617*
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 null
Transcript: ENSMUST00000188389
AA Change: E617*
|
SMART Domains |
Protein: ENSMUSP00000139652 Gene: ENSMUSG00000042046 AA Change: E617*
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: 93.4%
- 3x: 91.3%
- 10x: 86.8%
- 20x: 76.6%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
A |
G |
1: 171,086,610 (GRCm39) |
N801D |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,826,721 (GRCm39) |
K661R |
probably benign |
Het |
Akap1 |
A |
T |
11: 88,735,204 (GRCm39) |
M486K |
probably benign |
Het |
Arhgap40 |
T |
A |
2: 158,373,825 (GRCm39) |
I202N |
probably benign |
Het |
C1qtnf2 |
T |
A |
11: 43,382,022 (GRCm39) |
L248Q |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,306,135 (GRCm39) |
H340L |
probably benign |
Het |
Cd5 |
A |
G |
19: 10,703,750 (GRCm39) |
V104A |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,785,138 (GRCm39) |
E3032V |
possibly damaging |
Het |
Cts7 |
A |
G |
13: 61,504,386 (GRCm39) |
I59T |
probably damaging |
Het |
Cutc |
G |
T |
19: 43,756,708 (GRCm39) |
A267S |
probably damaging |
Het |
Dmwd |
A |
G |
7: 18,814,643 (GRCm39) |
Q431R |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,042,738 (GRCm39) |
N3280S |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,412,508 (GRCm39) |
N4039I |
probably damaging |
Het |
Dnaja4 |
T |
C |
9: 54,617,918 (GRCm39) |
I260T |
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,927 (GRCm39) |
F307L |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,179,300 (GRCm39) |
S256N |
probably damaging |
Het |
Dusp15 |
G |
A |
2: 152,787,396 (GRCm39) |
H72Y |
probably benign |
Het |
Dysf |
C |
T |
6: 84,077,216 (GRCm39) |
R660* |
probably null |
Het |
Fbxl13 |
T |
A |
5: 21,727,146 (GRCm39) |
I584L |
probably benign |
Het |
Gsap |
T |
C |
5: 21,391,407 (GRCm39) |
L16P |
probably damaging |
Het |
Hgsnat |
C |
T |
8: 26,435,227 (GRCm39) |
A636T |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,335,147 (GRCm39) |
T161A |
|
Het |
Hspg2 |
T |
C |
4: 137,277,684 (GRCm39) |
S2928P |
possibly damaging |
Het |
Ifi214 |
G |
A |
1: 173,355,485 (GRCm39) |
P108S |
probably benign |
Het |
Il17ra |
A |
T |
6: 120,458,367 (GRCm39) |
Y506F |
probably damaging |
Het |
Il9r |
T |
A |
11: 32,144,734 (GRCm39) |
Q53L |
probably benign |
Het |
Irf2bp2 |
C |
T |
8: 127,319,398 (GRCm39) |
G260R |
probably damaging |
Het |
Jdp2 |
T |
A |
12: 85,685,626 (GRCm39) |
I129N |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,305,249 (GRCm39) |
|
probably null |
Het |
Klrd1 |
A |
G |
6: 129,573,670 (GRCm39) |
T120A |
unknown |
Het |
Lfng |
A |
G |
5: 140,598,283 (GRCm39) |
N202D |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,802,095 (GRCm39) |
E757G |
probably damaging |
Het |
Ltn1 |
G |
A |
16: 87,217,211 (GRCm39) |
P342L |
probably damaging |
Het |
Lum |
A |
C |
10: 97,404,738 (GRCm39) |
Y211S |
probably damaging |
Het |
Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
Nlrc4 |
T |
C |
17: 74,753,304 (GRCm39) |
T360A |
probably damaging |
Het |
Or4c1 |
T |
C |
2: 89,133,727 (GRCm39) |
I70V |
probably benign |
Het |
Or7g32 |
T |
C |
9: 19,389,357 (GRCm39) |
Y63C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,638,029 (GRCm39) |
T22K |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,438,036 (GRCm39) |
D1035G |
probably benign |
Het |
Phf20l1 |
A |
T |
15: 66,484,901 (GRCm39) |
K322I |
possibly damaging |
Het |
Pik3r3 |
A |
C |
4: 116,149,323 (GRCm39) |
N349T |
probably benign |
Het |
Poc1a |
A |
G |
9: 106,227,028 (GRCm39) |
Q420R |
|
Het |
Prl7d1 |
A |
T |
13: 27,898,320 (GRCm39) |
M63K |
possibly damaging |
Het |
Rap1gds1 |
C |
A |
3: 138,662,061 (GRCm39) |
M398I |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,570,203 (GRCm39) |
V1192D |
probably damaging |
Het |
Rif1 |
T |
C |
2: 52,001,970 (GRCm39) |
V166A |
|
Het |
Robo4 |
T |
C |
9: 37,322,687 (GRCm39) |
Y847H |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,118,326 (GRCm39) |
N468S |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,628,345 (GRCm39) |
T553A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,001,976 (GRCm39) |
Y247H |
probably damaging |
Het |
Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
Ston2 |
G |
T |
12: 91,615,276 (GRCm39) |
D377E |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,283,023 (GRCm39) |
S1557P |
probably damaging |
Het |
Syt6 |
C |
T |
3: 103,482,769 (GRCm39) |
R26W |
possibly damaging |
Het |
Tep1 |
C |
T |
14: 51,066,684 (GRCm39) |
G2305R |
possibly damaging |
Het |
Ticrr |
A |
G |
7: 79,328,771 (GRCm39) |
T637A |
possibly damaging |
Het |
Tnn |
A |
T |
1: 159,913,647 (GRCm39) |
F1546Y |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,315,888 (GRCm39) |
D2055G |
possibly damaging |
Het |
Trim39 |
A |
G |
17: 36,579,862 (GRCm39) |
V31A |
possibly damaging |
Het |
Trpc7 |
G |
T |
13: 57,035,321 (GRCm39) |
T204K |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,996 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,994,590 (GRCm39) |
I6K |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCATGACTGTTGACATCTC -3'
(R):5'- TGAGGCAGCTTTGCAAGGAG -3'
Sequencing Primer
(F):5'- GCATGACTGTTGACATCTCACTGC -3'
(R):5'- TTTGCAAGGAGGCCGGAGTC -3'
|
Posted On |
2019-06-07 |