Incidental Mutation 'IGL00418:Dpyd'
ID6764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpyd
Ensembl Gene ENSMUSG00000033308
Gene Namedihydropyrimidine dehydrogenase
SynonymsDPD, E330028L06Rik
Accession Numbers

Genbank: NM_170778; MGI: 2139667

Is this an essential gene? Possibly non essential (E-score: 0.329) question?
Stock #IGL00418
Quality Score
Status
Chromosome3
Chromosomal Location118562129-119432924 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 118944242 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 477 (F477L)
Ref Sequence ENSEMBL: ENSMUSP00000039429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039177]
Predicted Effect probably damaging
Transcript: ENSMUST00000039177
AA Change: F477L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: F477L

DomainStartEndE-ValueType
Pfam:Fer4_20 55 168 4.6e-35 PFAM
Pfam:Pyr_redox_2 188 499 1.5e-15 PFAM
Pfam:NAD_binding_8 193 249 5.5e-8 PFAM
Pfam:DHO_dh 532 838 8.1e-36 PFAM
Pfam:Dus 617 822 7.5e-8 PFAM
Pfam:Fer4_10 945 997 7.4e-9 PFAM
Pfam:Fer4_21 946 1004 1.3e-26 PFAM
SMART Domains
(Predicted Sequence)

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 189 487 2.6e-13 PFAM
Pfam:DHO_dh 532 838 5.6e-34 PFAM
Pfam:Dus 641 823 2e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,048,963 I238T probably damaging Het
Akap4 T C X: 7,076,490 V353A possibly damaging Het
Apex2 T C X: 150,572,052 K430E probably benign Het
Aqp9 C T 9: 71,132,731 A116T probably damaging Het
Asb15 T A 6: 24,558,643 probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Bspry G T 4: 62,496,105 D312Y probably benign Het
Cdh16 G A 8: 104,623,413 R5W probably benign Het
Ciz1 C T 2: 32,372,388 R461C probably damaging Het
Cldn14 T A 16: 93,919,301 D219V probably benign Het
Clpb A T 7: 101,787,745 T706S probably benign Het
Cyp2d11 A T 15: 82,392,468 M90K probably benign Het
Cyp2j8 T A 4: 96,444,616 I498F possibly damaging Het
Dnah2 A G 11: 69,495,066 probably benign Het
Dscaml1 C A 9: 45,670,200 S439* probably null Het
Faxc A G 4: 21,958,490 K216E possibly damaging Het
Fmo1 C T 1: 162,836,246 R238Q probably damaging Het
Gm14399 G A 2: 175,131,522 R147* probably null Het
H2-Ab1 G A 17: 34,267,575 V203M probably damaging Het
Heatr5b T C 17: 78,753,141 E2035G probably damaging Het
Hip1 A G 5: 135,426,346 I786T probably damaging Het
Homer1 T C 13: 93,387,688 probably benign Het
Igkv9-120 A G 6: 68,049,987 D2G possibly damaging Het
Irgm1 A T 11: 48,866,005 Y342* probably null Het
Kctd19 A T 8: 105,388,463 probably null Het
Large1 T C 8: 72,823,841 probably null Het
Mzf1 G A 7: 13,044,616 A287V possibly damaging Het
Nes A T 3: 87,976,254 K607* probably null Het
Pars2 T A 4: 106,654,050 V307E probably damaging Het
Pcsk5 T A 19: 17,511,421 I1012F possibly damaging Het
Pole T C 5: 110,303,565 probably benign Het
Rbm14 T C 19: 4,802,548 Y602C probably null Het
Scn2a A T 2: 65,764,522 Q1905L probably benign Het
Slc26a2 A G 18: 61,198,740 F540L probably benign Het
Slco2a1 T C 9: 103,079,441 probably benign Het
Tas2r106 T C 6: 131,677,959 probably null Het
Tmem175 T A 5: 108,645,866 D287E probably benign Het
Trappc12 T C 12: 28,737,836 K416R probably damaging Het
Trim2 A G 3: 84,208,289 L112P probably damaging Het
Vps13c T A 9: 67,876,262 N240K probably damaging Het
Wdr90 A C 17: 25,849,364 I1330S probably damaging Het
Wfdc6a A G 2: 164,584,994 probably null Het
Zc3h12c C T 9: 52,116,665 V466M probably damaging Het
Zswim8 A G 14: 20,718,475 T1025A probably damaging Het
Other mutations in Dpyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Dpyd APN 3 119064987 missense probably benign 0.06
IGL02113:Dpyd APN 3 118999219 missense probably benign 0.06
IGL02177:Dpyd APN 3 119064910 missense possibly damaging 0.76
IGL03001:Dpyd APN 3 118917242 missense probably benign 0.07
IGL03106:Dpyd APN 3 119195134 missense probably benign 0.03
IGL03399:Dpyd APN 3 119314777 missense probably damaging 0.98
F5770:Dpyd UTSW 3 118897126 nonsense probably null
F6893:Dpyd UTSW 3 118804134 critical splice donor site probably null
R0014:Dpyd UTSW 3 119141935 missense probably damaging 1.00
R0081:Dpyd UTSW 3 118944255 missense probably benign 0.00
R0267:Dpyd UTSW 3 118917272 missense probably benign
R0349:Dpyd UTSW 3 118917099 nonsense probably null
R0387:Dpyd UTSW 3 119427226 missense probably benign 0.21
R0523:Dpyd UTSW 3 118899203 missense probably benign
R0555:Dpyd UTSW 3 119431542 missense probably damaging 1.00
R0652:Dpyd UTSW 3 119427275 missense probably damaging 1.00
R0741:Dpyd UTSW 3 118674505 missense possibly damaging 0.79
R1313:Dpyd UTSW 3 118899161 splice acceptor site probably benign
R1554:Dpyd UTSW 3 119065046 splice site probably null
R1610:Dpyd UTSW 3 119065006 missense probably benign
R1710:Dpyd UTSW 3 118610443 critical splice acceptor site probably null
R1861:Dpyd UTSW 3 118917131 missense probably damaging 1.00
R2103:Dpyd UTSW 3 119064952 missense probably benign 0.02
R2130:Dpyd UTSW 3 118674568 missense probably benign
R2131:Dpyd UTSW 3 118674568 missense probably benign
R2882:Dpyd UTSW 3 119065030 missense probably damaging 0.99
R3771:Dpyd UTSW 3 119412278 critical splice donor site probably null
R3978:Dpyd UTSW 3 118897088 critical splice acceptor site probably benign
R3978:Dpyd UTSW 3 118897089 critical splice acceptor site probably benign
R4030:Dpyd UTSW 3 118897166 missense probably benign 0.03
R4065:Dpyd UTSW 3 118897089 critical splice acceptor site probably benign
R4066:Dpyd UTSW 3 118897089 critical splice acceptor site probably benign
R4234:Dpyd UTSW 3 119431584 missense probably damaging 1.00
R4502:Dpyd UTSW 3 118797537 missense probably damaging 1.00
R4638:Dpyd UTSW 3 119266077 missense probably benign 0.03
R4980:Dpyd UTSW 3 118917118 missense probably damaging 0.99
R5262:Dpyd UTSW 3 118797422 nonsense probably null
R5348:Dpyd UTSW 3 118781943 missense probably benign
R5587:Dpyd UTSW 3 119064951 missense probably damaging 1.00
R5611:Dpyd UTSW 3 119194293 missense probably benign
R5665:Dpyd UTSW 3 118917092 missense probably damaging 1.00
R5716:Dpyd UTSW 3 118899179 missense probably damaging 1.00
R5786:Dpyd UTSW 3 119427237 missense probably damaging 0.97
R6046:Dpyd UTSW 3 119431575 missense probably benign 0.01
R6404:Dpyd UTSW 3 119265957 missense probably benign 0.02
R6703:Dpyd UTSW 3 118897200 splice site probably null
V7581:Dpyd UTSW 3 118897126 nonsense probably null
V7582:Dpyd UTSW 3 118897126 nonsense probably null
V7583:Dpyd UTSW 3 118897126 nonsense probably null
Posted OnApr 20, 2012