Incidental Mutation 'R7240:Dstyk'
ID 563121
Institutional Source Beutler Lab
Gene Symbol Dstyk
Ensembl Gene ENSMUSG00000042046
Gene Name dual serine/threonine and tyrosine protein kinase
Synonyms C430014H23Rik, A930019K20Rik
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R7240 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 132417555-132466958 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132454123 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 538 (M538I)
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: M538I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000035358
Gene: ENSMUSG00000042046
AA Change: M538I

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: M538I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139652
Gene: ENSMUSG00000042046
AA Change: M538I

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
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,605,075 (GRCm38) I59T unknown Het
Aspm C T 1: 139,478,651 (GRCm38) Q1759* probably null Het
Atn1 A T 6: 124,747,898 (GRCm38) I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,397,572 (GRCm38) probably benign Het
Ccdc88c C T 12: 100,944,939 (GRCm38) V879M probably benign Het
Cd300c A G 11: 114,959,783 (GRCm38) C65R possibly damaging Het
Cd69 A T 6: 129,270,042 (GRCm38) S112T possibly damaging Het
Cdh19 T C 1: 110,893,407 (GRCm38) T534A probably benign Het
Cdk5rap2 T A 4: 70,291,908 (GRCm38) D701V probably damaging Het
D130052B06Rik A G 11: 33,623,874 (GRCm38) H157R possibly damaging Het
Dpf1 T A 7: 29,311,627 (GRCm38) F150L probably benign Het
Dsg1c T C 18: 20,283,109 (GRCm38) L689P probably damaging Het
E4f1 T A 17: 24,444,325 (GRCm38) I669F probably damaging Het
Gm7138 T C 10: 77,776,755 (GRCm38) T64A unknown Het
Gnai2 A C 9: 107,615,773 (GRCm38) D310E Het
Iqca A G 1: 90,070,550 (GRCm38) V567A possibly damaging Het
Iqgap1 A T 7: 80,759,839 (GRCm38) N249K probably benign Het
Lamc1 A G 1: 153,234,650 (GRCm38) V1093A possibly damaging Het
Mfap3 A G 11: 57,529,756 (GRCm38) K188E probably damaging Het
N4bp2 T A 5: 65,794,545 (GRCm38) V431D probably damaging Het
Notch4 A G 17: 34,576,471 (GRCm38) T792A probably benign Het
Ntn4 A G 10: 93,745,741 (GRCm38) H592R probably damaging Het
Ofcc1 A G 13: 40,208,841 (GRCm38) C202R probably benign Het
Olfr13 A G 6: 43,174,501 (GRCm38) K172E probably benign Het
Olfr418 T C 1: 173,270,994 (GRCm38) I273T probably benign Het
Olfr476 T C 7: 107,968,188 (GRCm38) S264P probably benign Het
Olfr497 A G 7: 108,422,933 (GRCm38) M121V probably damaging Het
Olfr922 A G 9: 38,815,713 (GRCm38) D70G probably benign Het
Olfr938 A T 9: 39,078,610 (GRCm38) M45K probably damaging Het
Parpbp G A 10: 88,124,940 (GRCm38) T228I probably damaging Het
Pcdhgb8 G A 18: 37,763,703 (GRCm38) V609M probably damaging Het
Pla2g4d T C 2: 120,270,349 (GRCm38) N543S probably damaging Het
Puf60 A G 15: 76,072,539 (GRCm38) probably benign Het
Rbm6 A T 9: 107,852,896 (GRCm38) D184E probably damaging Het
Rnase9 A C 14: 51,038,979 (GRCm38) S181A probably benign Het
Rnpc3 T A 3: 113,616,831 (GRCm38) R270S probably damaging Het
Rundc1 T C 11: 101,431,548 (GRCm38) probably null Het
Ryr1 T C 7: 29,052,015 (GRCm38) S3715G possibly damaging Het
Scn3a A T 2: 65,469,042 (GRCm38) D1373E possibly damaging Het
Serpina3k T G 12: 104,340,602 (GRCm38) I31S probably benign Het
Sipa1l2 A G 8: 125,469,860 (GRCm38) F712L probably damaging Het
Slc22a29 A G 19: 8,161,511 (GRCm38) V529A probably damaging Het
Tdrd3 A G 14: 87,458,803 (GRCm38) N58S probably benign Het
Tmc2 C T 2: 130,234,804 (GRCm38) T350I possibly damaging Het
Tpst2 T C 5: 112,307,678 (GRCm38) C28R probably benign Het
Trbv21 A T 6: 41,202,958 (GRCm38) K69N probably benign Het
Trpm2 A G 10: 77,935,876 (GRCm38) probably null Het
Ttn A G 2: 76,848,990 (GRCm38) V10796A unknown Het
Ush2a A G 1: 188,911,661 (GRCm38) T4407A possibly damaging Het
Vmn2r95 A G 17: 18,451,963 (GRCm38) H726R probably benign Het
Zfp777 A G 6: 48,044,449 (GRCm38) S80P probably benign Het
Other mutations in Dstyk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Dstyk APN 1 132,459,988 (GRCm38) missense probably damaging 1.00
IGL01753:Dstyk APN 1 132,462,939 (GRCm38) missense probably damaging 1.00
IGL02156:Dstyk APN 1 132,449,926 (GRCm38) missense probably benign 0.27
IGL02175:Dstyk APN 1 132,449,391 (GRCm38) nonsense probably null
IGL02721:Dstyk APN 1 132,449,316 (GRCm38) missense probably benign 0.03
IGL03194:Dstyk APN 1 132,456,316 (GRCm38) splice site probably benign
PIT4305001:Dstyk UTSW 1 132,455,896 (GRCm38) nonsense probably null
PIT4791001:Dstyk UTSW 1 132,449,927 (GRCm38) missense probably benign 0.00
R0135:Dstyk UTSW 1 132,462,934 (GRCm38) missense probably damaging 1.00
R0309:Dstyk UTSW 1 132,456,864 (GRCm38) splice site probably benign
R0399:Dstyk UTSW 1 132,453,080 (GRCm38) splice site probably benign
R0781:Dstyk UTSW 1 132,453,325 (GRCm38) splice site probably benign
R1110:Dstyk UTSW 1 132,453,325 (GRCm38) splice site probably benign
R1138:Dstyk UTSW 1 132,463,486 (GRCm38) missense probably benign 0.00
R1300:Dstyk UTSW 1 132,449,913 (GRCm38) missense probably benign 0.02
R1330:Dstyk UTSW 1 132,449,880 (GRCm38) missense probably benign 0.25
R1509:Dstyk UTSW 1 132,456,346 (GRCm38) missense probably damaging 1.00
R1667:Dstyk UTSW 1 132,456,919 (GRCm38) missense probably damaging 1.00
R1728:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1729:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1730:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1739:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1757:Dstyk UTSW 1 132,434,094 (GRCm38) splice site probably benign
R1762:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1783:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1784:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1785:Dstyk UTSW 1 132,456,984 (GRCm38) missense probably damaging 1.00
R1829:Dstyk UTSW 1 132,449,595 (GRCm38) missense probably benign 0.06
R2031:Dstyk UTSW 1 132,453,191 (GRCm38) missense probably damaging 0.99
R2124:Dstyk UTSW 1 132,453,119 (GRCm38) missense possibly damaging 0.64
R2132:Dstyk UTSW 1 132,449,484 (GRCm38) missense probably null
R2143:Dstyk UTSW 1 132,463,375 (GRCm38) missense probably damaging 1.00
R2144:Dstyk UTSW 1 132,463,375 (GRCm38) missense probably damaging 1.00
R2145:Dstyk UTSW 1 132,463,375 (GRCm38) missense probably damaging 1.00
R3804:Dstyk UTSW 1 132,449,726 (GRCm38) missense probably damaging 1.00
R4277:Dstyk UTSW 1 132,455,413 (GRCm38) splice site probably null
R4504:Dstyk UTSW 1 132,434,389 (GRCm38) missense possibly damaging 0.81
R4674:Dstyk UTSW 1 132,463,390 (GRCm38) missense probably benign 0.42
R4697:Dstyk UTSW 1 132,449,487 (GRCm38) missense probably damaging 0.98
R4828:Dstyk UTSW 1 132,434,137 (GRCm38) missense probably benign
R4940:Dstyk UTSW 1 132,453,106 (GRCm38) missense probably damaging 0.96
R5029:Dstyk UTSW 1 132,449,324 (GRCm38) missense probably benign 0.01
R5678:Dstyk UTSW 1 132,453,291 (GRCm38) missense probably benign
R5900:Dstyk UTSW 1 132,456,979 (GRCm38) missense probably damaging 1.00
R5935:Dstyk UTSW 1 132,454,137 (GRCm38) missense probably damaging 0.99
R5973:Dstyk UTSW 1 132,434,411 (GRCm38) missense probably damaging 0.99
R6217:Dstyk UTSW 1 132,459,939 (GRCm38) missense probably damaging 1.00
R6381:Dstyk UTSW 1 132,456,765 (GRCm38) splice site probably null
R6429:Dstyk UTSW 1 132,449,804 (GRCm38) nonsense probably null
R7038:Dstyk UTSW 1 132,454,109 (GRCm38) missense probably benign 0.32
R7411:Dstyk UTSW 1 132,417,666 (GRCm38) missense probably benign 0.01
R7714:Dstyk UTSW 1 132,456,876 (GRCm38) missense possibly damaging 0.93
R8805:Dstyk UTSW 1 132,434,225 (GRCm38) missense probably damaging 1.00
R9564:Dstyk UTSW 1 132,434,285 (GRCm38) missense probably damaging 1.00
R9785:Dstyk UTSW 1 132,453,300 (GRCm38) missense probably damaging 0.96
R9789:Dstyk UTSW 1 132,454,121 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGTTTGGGCAAGCAGAAGG -3'
(R):5'- AGGCTGAGTCTTTACTGTCTTTAC -3'

Sequencing Primer
(F):5'- CTTGCTATATAGAACAGGCTGGCC -3'
(R):5'- ACCTAATGATGTAGAATTTTGTGGC -3'
Posted On 2019-06-26