Incidental Mutation 'IGL01935:Dtymk'
ID180633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtymk
Ensembl Gene ENSMUSG00000026281
Gene Namedeoxythymidylate kinase
SynonymsD10Ertd203e, mtmk, TYPK, Tmk, CDC8
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.879) question?
Stock #IGL01935
Quality Score
Status
Chromosome1
Chromosomal Location93792576-93801934 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93794743 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 113 (K113E)
Ref Sequence ENSEMBL: ENSMUSP00000108514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000027503] [ENSMUST00000112893]
Predicted Effect probably benign
Transcript: ENSMUST00000027502
SMART Domains Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 39 335 4.4e-104 PFAM
low complexity region 375 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000027503
AA Change: K171E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027503
Gene: ENSMUSG00000026281
AA Change: K171E

DomainStartEndE-ValueType
Pfam:Thymidylate_kin 11 191 6.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112893
AA Change: K113E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108514
Gene: ENSMUSG00000026281
AA Change: K113E

DomainStartEndE-ValueType
Pfam:Thymidylate_kin 16 133 1.9e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144106
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,637,657 probably benign Het
Akr1c12 A T 13: 4,272,245 V266E probably damaging Het
Arhgef1 A G 7: 24,921,882 T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 T801A probably benign Het
Card11 T A 5: 140,883,546 I832F possibly damaging Het
Catsperg1 T C 7: 29,195,871 probably null Het
Ccdc180 A G 4: 45,906,889 T455A possibly damaging Het
Cfhr1 T A 1: 139,551,002 Y210F probably benign Het
Chrna5 T C 9: 55,004,843 V309A probably benign Het
Clstn2 A G 9: 97,463,468 V609A probably damaging Het
D230025D16Rik T C 8: 105,240,001 F127L probably damaging Het
Dnah6 T C 6: 73,060,143 D3372G probably benign Het
Eef2k T C 7: 120,885,831 F307S probably damaging Het
Flnc T A 6: 29,454,280 V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Herc2 A G 7: 56,153,793 Y2192C probably benign Het
Hkdc1 A T 10: 62,400,386 V459E probably damaging Het
Iqsec3 T C 6: 121,383,992 D969G probably damaging Het
Irf3 A G 7: 45,000,770 T237A probably benign Het
Jade2 G A 11: 51,828,384 T245I possibly damaging Het
Kctd8 A G 5: 69,340,364 I313T possibly damaging Het
Kdm5a T A 6: 120,408,323 S835R probably benign Het
Lama2 A C 10: 27,422,604 H165Q probably damaging Het
Lrp1b T A 2: 41,268,355 N1617Y probably damaging Het
Mcc C T 18: 44,519,516 probably null Het
Mfsd14b T A 13: 65,067,925 M405L probably benign Het
Myom3 T A 4: 135,788,381 F794I probably damaging Het
Napsa G T 7: 44,586,622 A362S probably benign Het
Ncf4 A T 15: 78,255,986 D195V probably damaging Het
Olfr738 T C 14: 50,413,555 F4L probably benign Het
Pank4 T G 4: 154,979,530 D659E probably damaging Het
Pcnx T A 12: 81,917,816 D252E probably benign Het
Pglyrp2 G A 17: 32,418,577 A159V probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Ppfia4 A G 1: 134,317,936 S627P probably benign Het
Ppp1r15b T C 1: 133,132,023 F93L probably benign Het
Pramef12 C T 4: 144,392,602 probably benign Het
Qrfpr A T 3: 36,181,051 probably null Het
Rapgef4 C A 2: 72,234,123 T623K probably benign Het
Rapgef6 A G 11: 54,610,842 T184A possibly damaging Het
Ssrp1 T C 2: 85,046,712 *709Q probably null Het
St7 T G 6: 17,930,823 I442S probably damaging Het
Syne2 T A 12: 75,925,313 H992Q probably damaging Het
Syt14 T C 1: 192,933,371 R436G probably damaging Het
Tbc1d5 A G 17: 50,963,765 probably benign Het
Thsd7a T A 6: 12,317,419 N1630I probably damaging Het
Tinagl1 T C 4: 130,168,001 K180R probably damaging Het
Tmed7 T C 18: 46,597,123 T54A probably benign Het
Tmprss2 A T 16: 97,578,595 Y48* probably null Het
Tns2 C T 15: 102,111,634 probably null Het
Unc13d T C 11: 116,069,751 M496V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zbtb39 A G 10: 127,742,366 T270A probably benign Het
Zfr T C 15: 12,180,712 S976P probably benign Het
Zscan29 A G 2: 121,170,057 F23S probably damaging Het
Other mutations in Dtymk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Dtymk APN 1 93794724 critical splice donor site probably null
IGL03342:Dtymk APN 1 93794819 missense probably benign 0.01
R0883:Dtymk UTSW 1 93801788 missense possibly damaging 0.64
R4765:Dtymk UTSW 1 93792909 missense probably damaging 1.00
R6799:Dtymk UTSW 1 93798492 missense probably benign
Posted On2014-05-07