Incidental Mutation 'IGL03342:Dtymk'
ID 417280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtymk
Ensembl Gene ENSMUSG00000026281
Gene Name deoxythymidylate kinase
Synonyms mtmk, CDC8, D10Ertd203e, TYPK, Tmk
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL03342
Quality Score
Status
Chromosome 1
Chromosomal Location 93720298-93729656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 93722541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 87 (E87D)
Ref Sequence ENSEMBL: ENSMUSP00000108514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000027503] [ENSMUST00000112893]
AlphaFold P97930
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: E145D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027503
Gene: ENSMUSG00000026281
AA Change: E145D

DomainStartEndE-ValueType
Pfam:Thymidylate_kin 11 191 6.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112893
AA Change: E87D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000108514
Gene: ENSMUSG00000026281
AA Change: E87D

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,178,517 (GRCm39) T1152M possibly damaging Het
Abcg2 G T 6: 58,642,120 (GRCm39) R136I probably damaging Het
Acap2 A G 16: 30,924,310 (GRCm39) V641A probably damaging Het
Afg3l2 A T 18: 67,540,390 (GRCm39) D706E probably benign Het
Bbs1 A T 19: 4,947,621 (GRCm39) L311Q probably damaging Het
Cacna1e A G 1: 154,342,690 (GRCm39) probably null Het
Car2 A T 3: 14,960,629 (GRCm39) D129V probably benign Het
Catsper2 T C 2: 121,237,217 (GRCm39) I228V probably damaging Het
Cdhr3 C A 12: 33,101,054 (GRCm39) R452M probably benign Het
Chrm1 A T 19: 8,656,672 (GRCm39) Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 (GRCm39) probably benign Het
Coa7 A G 4: 108,189,426 (GRCm39) D42G probably damaging Het
Ctsz T C 2: 174,270,933 (GRCm39) Y187C possibly damaging Het
Cxcr6 C T 9: 123,639,472 (GRCm39) Q165* probably null Het
Cyp3a11 G A 5: 145,791,927 (GRCm39) P489S probably damaging Het
Cyp4f15 A T 17: 32,916,910 (GRCm39) I276F probably damaging Het
Dsg1b T A 18: 20,542,517 (GRCm39) M1008K probably benign Het
Dsg4 T A 18: 20,584,880 (GRCm39) I198N probably damaging Het
Dysf T A 6: 84,167,854 (GRCm39) D1749E probably benign Het
Dzip3 G T 16: 48,749,986 (GRCm39) Q1050K probably damaging Het
Echs1 C T 7: 139,690,026 (GRCm39) probably benign Het
Enc1 T A 13: 97,382,978 (GRCm39) I496N possibly damaging Het
Epc2 A T 2: 49,426,658 (GRCm39) Y139F probably benign Het
Exo1 A T 1: 175,719,693 (GRCm39) N246I probably benign Het
Flg2 A G 3: 93,108,542 (GRCm39) K190R probably damaging Het
Gm5424 A T 10: 61,907,971 (GRCm39) noncoding transcript Het
Gpbp1l1 A C 4: 116,431,740 (GRCm39) T133P probably benign Het
Gpr155 A G 2: 73,180,022 (GRCm39) F146S probably damaging Het
Grm1 T A 10: 10,955,715 (GRCm39) I190L probably benign Het
Hif3a C T 7: 16,775,047 (GRCm39) R515H possibly damaging Het
Itprid2 G A 2: 79,490,796 (GRCm39) M971I probably damaging Het
Kdm5b G A 1: 134,530,314 (GRCm39) D442N probably benign Het
Manba A T 3: 135,223,748 (GRCm39) I212F possibly damaging Het
Map3k13 A G 16: 21,710,981 (GRCm39) E88G possibly damaging Het
Mapk7 A G 11: 61,382,216 (GRCm39) L163P probably damaging Het
Med1 A T 11: 98,080,006 (GRCm39) probably null Het
Mtrf1 T A 14: 79,653,312 (GRCm39) probably null Het
Mtrf1 A G 14: 79,653,420 (GRCm39) D365G possibly damaging Het
Mtrf1 C T 14: 79,653,311 (GRCm39) probably benign Het
Myadm C T 7: 3,345,403 (GRCm39) T55I possibly damaging Het
Nlgn1 A T 3: 26,187,411 (GRCm39) I158N probably damaging Het
Nlrc4 A G 17: 74,752,313 (GRCm39) L690P probably damaging Het
Nlrp1a A T 11: 71,013,617 (GRCm39) D544E probably benign Het
Nlrp2 A T 7: 5,320,482 (GRCm39) L20Q probably damaging Het
Or1e30 T A 11: 73,678,309 (GRCm39) S182T probably benign Het
Or8k21 A T 2: 86,145,579 (GRCm39) I17N possibly damaging Het
Or9i16 A G 19: 13,864,801 (GRCm39) Y258H probably damaging Het
Padi3 G A 4: 140,537,909 (GRCm39) Q4* probably null Het
Pfkl A T 10: 77,841,309 (GRCm39) I13K possibly damaging Het
Pinx1 A G 14: 64,157,018 (GRCm39) D315G probably benign Het
Prickle3 A G X: 7,529,735 (GRCm39) D47G probably benign Het
Psmd10 A T X: 139,857,403 (GRCm39) V5E probably damaging Het
Rasgrf2 C A 13: 92,136,098 (GRCm39) V605F probably damaging Het
Smarca1 G T X: 46,981,146 (GRCm39) A84D probably damaging Het
Sp2 A G 11: 96,852,588 (GRCm39) V112A probably damaging Het
Srgap3 G A 6: 112,752,648 (GRCm39) R279C probably damaging Het
Trav21-dv12 T C 14: 54,113,501 (GRCm39) L10P unknown Het
Vmn1r236 A T 17: 21,507,236 (GRCm39) H118L probably benign Het
Vmn2r120 A G 17: 57,816,372 (GRCm39) M661T probably benign Het
Vmn2r17 A T 5: 109,575,782 (GRCm39) I218F probably damaging Het
Vmn2r41 G T 7: 8,141,682 (GRCm39) A594D probably damaging Het
Zc2hc1a A G 3: 7,589,283 (GRCm39) E103G possibly damaging Het
Zfp62 G T 11: 49,106,298 (GRCm39) G130* probably null Het
Other mutations in Dtymk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Dtymk APN 1 93,722,446 (GRCm39) critical splice donor site probably null
IGL01935:Dtymk APN 1 93,722,465 (GRCm39) missense probably benign 0.00
R0883:Dtymk UTSW 1 93,729,510 (GRCm39) missense possibly damaging 0.64
R4765:Dtymk UTSW 1 93,720,631 (GRCm39) missense probably damaging 1.00
R6799:Dtymk UTSW 1 93,726,214 (GRCm39) missense probably benign
R8767:Dtymk UTSW 1 93,728,635 (GRCm39) unclassified probably benign
R8850:Dtymk UTSW 1 93,729,543 (GRCm39) missense probably benign
Posted On 2016-08-02