Incidental Mutation 'IGL02721:Dstyk'
ID305008
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: 0.220) question?
Stock #IGL02721
Quality Score
Status
Chromosome1
Chromosomal Location132417555-132466958 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 132449316 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 220 (V220G)
Ref Sequence ENSEMBL: ENSMUSP00000035358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045110] [ENSMUST00000188389]
Predicted Effect probably benign
Transcript: ENSMUST00000045110
AA Change: V220G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: V220G

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 probably benign
Transcript: ENSMUST00000187092
Predicted Effect probably benign
Transcript: ENSMUST00000188389
AA Change: V220G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: V220G

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,980,840 I398L probably benign Het
4931414P19Rik A G 14: 54,585,745 S332P probably damaging Het
Abca7 T C 10: 80,013,635 S1877P possibly damaging Het
Adora2b G T 11: 62,265,105 A127S probably damaging Het
Ahnak A G 19: 9,009,707 K2785R probably benign Het
Anapc2 G A 2: 25,274,668 W21* probably null Het
Atp7b A G 8: 22,022,477 S457P probably benign Het
Catsperb A G 12: 101,625,297 Q1046R probably null Het
Comp A T 8: 70,376,081 N188Y probably damaging Het
Crnkl1 A T 2: 145,923,881 I423K possibly damaging Het
Crtap A T 9: 114,381,639 V289E probably damaging Het
Ctnna2 T C 6: 76,981,869 N454S probably damaging Het
Dnah5 A T 15: 28,234,243 probably null Het
E230025N22Rik C T 18: 36,695,611 V5M probably damaging Het
Fam111a T G 19: 12,586,972 N28K probably benign Het
Fbxo32 A G 15: 58,182,962 I284T possibly damaging Het
Fgb A C 3: 83,043,367 V360G possibly damaging Het
Gm3404 A T 5: 146,526,928 R128* probably null Het
Gm5152 T C 5: 10,243,916 K106E probably damaging Het
Hal G T 10: 93,507,498 G535* probably null Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Igsf5 T A 16: 96,391,022 S274T probably damaging Het
Kdm7a C T 6: 39,173,437 A134T possibly damaging Het
Klhl25 G T 7: 75,866,900 W518L probably damaging Het
Map1a A T 2: 121,304,037 D1778V probably benign Het
Nif3l1 A G 1: 58,457,849 D311G probably damaging Het
Numa1 A G 7: 101,999,911 T950A probably benign Het
Nup54 A T 5: 92,417,857 I406N possibly damaging Het
Olfr1389 T A 11: 49,430,641 L55* probably null Het
Olfr509 G T 7: 108,646,375 S67* probably null Het
Olfr800 C T 10: 129,659,955 P50S probably benign Het
Olfr801 A T 10: 129,670,123 I132N probably benign Het
Pcdhb18 T A 18: 37,490,031 M138K probably benign Het
Pik3c2g A G 6: 139,736,973 T27A probably benign Het
Plekhb2 A G 1: 34,869,364 N163S probably benign Het
Ros1 G A 10: 52,172,831 probably benign Het
Sh3gl1 A G 17: 56,017,577 L357P possibly damaging Het
Skint5 T A 4: 113,942,549 D141V probably damaging Het
Slc10a5 A G 3: 10,334,535 V355A probably benign Het
Ssh2 G T 11: 77,454,725 G1179* probably null Het
Syde2 A G 3: 146,002,004 N566S probably damaging Het
Sytl1 T C 4: 133,258,878 R149G probably benign Het
Tnpo2 A G 8: 85,054,690 probably null Het
Top2b T C 14: 16,409,236 L793P probably damaging Het
U2surp T A 9: 95,474,435 E789D probably benign Het
Vps13c G A 9: 67,964,149 probably benign Het
Zbtb34 C T 2: 33,411,258 G424R probably damaging Het
Zfhx4 A G 3: 5,243,307 D531G possibly damaging Het
Zfp787 C T 7: 6,132,464 probably null Het
Other mutations in Dstyk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Dstyk APN 1 132459988 missense probably damaging 1.00
IGL01753:Dstyk APN 1 132462939 missense probably damaging 1.00
IGL02156:Dstyk APN 1 132449926 missense probably benign 0.27
IGL02175:Dstyk APN 1 132449391 nonsense probably null
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 On2015-04-16