Incidental Mutation 'IGL01753:Dstyk'
ID153154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dstyk
Ensembl Gene ENSMUSG00000042046
Gene Namedual serine/threonine and tyrosine protein kinase
SynonymsC430014H23Rik, A930019K20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01753
Quality Score
Status
Chromosome1
Chromosomal Location132417555-132466958 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132462939 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 830 (Y830H)
Ref Sequence ENSEMBL: ENSMUSP00000035358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045110] [ENSMUST00000188389]
Predicted Effect probably damaging
Transcript: ENSMUST00000045110
AA Change: Y830H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: Y830H

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000180835
Predicted Effect probably benign
Transcript: ENSMUST00000188389
SMART Domains Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191494
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,802,224 F163L probably benign Het
Ap2b1 A G 11: 83,321,973 T60A probably damaging Het
Casp3 A G 8: 46,629,741 probably benign Het
Ces1d T C 8: 93,192,810 Y118C probably damaging Het
Chuk T C 19: 44,098,576 probably benign Het
Clec4b2 A T 6: 123,202,210 Y157F possibly damaging Het
Dlg4 T A 11: 70,041,347 F480I probably damaging Het
Dock8 T A 19: 25,061,292 probably benign Het
Dsg1b T C 18: 20,397,849 probably benign Het
Gm9268 T A 7: 43,024,715 V399E probably damaging Het
Hook2 T C 8: 84,993,236 probably null Het
Ighv2-9-1 T C 12: 113,769,928 D91G probably damaging Het
Igkv12-41 T C 6: 69,858,526 R81G probably damaging Het
Ispd C T 12: 36,473,177 L202F probably damaging Het
Jmjd1c T A 10: 67,232,015 S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 V1670I probably benign Het
Naa15 T C 3: 51,442,853 F124L probably damaging Het
Nek2 C T 1: 191,825,486 Q187* probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pif1 G A 9: 65,593,308 G505D probably damaging Het
Plxna4 T A 6: 32,310,478 I495F probably benign Het
Ppp1r21 T C 17: 88,562,102 probably benign Het
Prex1 T C 2: 166,602,882 I282V probably benign Het
Pzp A T 6: 128,502,183 I669N possibly damaging Het
Sipa1l2 T A 8: 125,453,292 probably benign Het
Top2a T A 11: 99,007,274 T689S probably damaging Het
Trerf1 T A 17: 47,315,436 noncoding transcript Het
Uso1 T C 5: 92,152,918 probably null Het
Zcchc7 A G 4: 44,929,217 I390V probably benign Het
Zfp90 C T 8: 106,424,150 T165I probably benign Het
Other mutations in Dstyk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Dstyk APN 1 132459988 missense probably damaging 1.00
IGL02156:Dstyk APN 1 132449926 missense probably benign 0.27
IGL02175:Dstyk APN 1 132449391 nonsense probably null
IGL02721:Dstyk APN 1 132449316 missense probably benign 0.03
IGL03194:Dstyk APN 1 132456316 splice site probably benign
PIT4305001:Dstyk UTSW 1 132455896 nonsense probably null
PIT4791001:Dstyk UTSW 1 132449927 missense probably benign 0.00
R0135:Dstyk UTSW 1 132462934 missense probably damaging 1.00
R0309:Dstyk UTSW 1 132456864 splice site probably benign
R0399:Dstyk UTSW 1 132453080 splice site probably benign
R0781:Dstyk UTSW 1 132453325 splice site probably benign
R1110:Dstyk UTSW 1 132453325 splice site probably benign
R1138:Dstyk UTSW 1 132463486 missense probably benign 0.00
R1300:Dstyk UTSW 1 132449913 missense probably benign 0.02
R1330:Dstyk UTSW 1 132449880 missense probably benign 0.25
R1509:Dstyk UTSW 1 132456346 missense probably damaging 1.00
R1667:Dstyk UTSW 1 132456919 missense probably damaging 1.00
R1728:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1729:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1730:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1739:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1757:Dstyk UTSW 1 132434094 splice site probably benign
R1762:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1783:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1784:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1785:Dstyk UTSW 1 132456984 missense probably damaging 1.00
R1829:Dstyk UTSW 1 132449595 missense probably benign 0.06
R2031:Dstyk UTSW 1 132453191 missense probably damaging 0.99
R2124:Dstyk UTSW 1 132453119 missense possibly damaging 0.64
R2132:Dstyk UTSW 1 132449484 missense probably null
R2143:Dstyk UTSW 1 132463375 missense probably damaging 1.00
R2144:Dstyk UTSW 1 132463375 missense probably damaging 1.00
R2145:Dstyk UTSW 1 132463375 missense probably damaging 1.00
R3804:Dstyk UTSW 1 132449726 missense probably damaging 1.00
R4277:Dstyk UTSW 1 132455413 splice site probably null
R4504:Dstyk UTSW 1 132434389 missense possibly damaging 0.81
R4674:Dstyk UTSW 1 132463390 missense probably benign 0.42
R4697:Dstyk UTSW 1 132449487 missense probably damaging 0.98
R4828:Dstyk UTSW 1 132434137 missense probably benign
R4940:Dstyk UTSW 1 132453106 missense probably damaging 0.96
R5029:Dstyk UTSW 1 132449324 missense probably benign 0.01
R5678:Dstyk UTSW 1 132453291 missense probably benign
R5900:Dstyk UTSW 1 132456979 missense probably damaging 1.00
R5935:Dstyk UTSW 1 132454137 missense probably damaging 0.99
R5973:Dstyk UTSW 1 132434411 missense probably damaging 0.99
R6217:Dstyk UTSW 1 132459939 missense probably damaging 1.00
R6381:Dstyk UTSW 1 132456765 intron probably null
R6429:Dstyk UTSW 1 132449804 nonsense probably null
R7038:Dstyk UTSW 1 132454109 missense probably benign 0.32
R7240:Dstyk UTSW 1 132454123 missense probably benign 0.02
R7411:Dstyk UTSW 1 132417666 missense probably benign 0.01
R7714:Dstyk UTSW 1 132456876 missense possibly damaging 0.93
Posted On2014-02-04