Incidental Mutation 'R6037:Dcun1d3'
ID479261
Institutional Source Beutler Lab
Gene Symbol Dcun1d3
Ensembl Gene ENSMUSG00000048787
Gene NameDCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)
Synonyms
MMRRC Submission 043258-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #R6037 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location119852796-119896298 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119857742 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 249 (F249S)
Ref Sequence ENSEMBL: ENSMUSP00000147253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059851] [ENSMUST00000098080] [ENSMUST00000106519] [ENSMUST00000137888] [ENSMUST00000142120] [ENSMUST00000207233]
Predicted Effect probably damaging
Transcript: ENSMUST00000059851
AA Change: F249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058968
Gene: ENSMUSG00000048787
AA Change: F249S

DomainStartEndE-ValueType
Pfam:Cullin_binding 161 277 6.5e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098080
AA Change: F249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095686
Gene: ENSMUSG00000048787
AA Change: F249S

DomainStartEndE-ValueType
Pfam:Cullin_binding 159 278 1.8e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106519
AA Change: F249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102129
Gene: ENSMUSG00000048787
AA Change: F249S

DomainStartEndE-ValueType
Pfam:Cullin_binding 159 278 1.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137888
Predicted Effect probably benign
Transcript: ENSMUST00000142120
SMART Domains Protein: ENSMUSP00000118439
Gene: ENSMUSG00000048787

DomainStartEndE-ValueType
PDB:4GBA|B 86 165 8e-53 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000207233
AA Change: F249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.4%
  • 20x: 72.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,426,349 V173M probably damaging Het
Abi2 C A 1: 60,464,579 P212T probably damaging Het
Ano4 A G 10: 89,317,246 F68S possibly damaging Het
Art5 C A 7: 102,098,384 A63S probably benign Het
Asgr1 T A 11: 70,056,421 S96R probably benign Het
Bdp1 A T 13: 100,027,449 V2248D possibly damaging Het
Cacna1s C T 1: 136,070,967 A200V possibly damaging Het
Cacna2d2 A G 9: 107,513,539 K357E probably damaging Het
Cfap52 C T 11: 67,946,300 G212R probably benign Het
Ece2 A G 16: 20,630,362 Y17C probably damaging Het
Efemp1 C T 11: 28,921,760 T425I probably damaging Het
Eprs A G 1: 185,396,109 E562G probably damaging Het
Fbn2 T C 18: 58,044,223 T2001A probably benign Het
Flt4 G A 11: 49,637,040 R940H probably damaging Het
Fry T A 5: 150,428,179 M1716K probably benign Het
Gm10684 T A 9: 45,107,741 probably benign Het
Gm281 T C 14: 13,864,282 N348S probably damaging Het
Hivep1 G A 13: 42,157,940 V1219I probably damaging Het
Hyls1 G A 9: 35,561,184 S312F probably benign Het
Il23r C T 6: 67,478,954 V177M probably damaging Het
Klf12 T C 14: 99,900,214 S299G probably benign Het
Lama5 G A 2: 180,207,013 R265C probably damaging Het
Lifr A G 15: 7,186,943 T800A probably damaging Het
Megf8 T C 7: 25,364,406 L2729P probably damaging Het
Mki67 A C 7: 135,696,803 S2167R possibly damaging Het
Mus81 T C 19: 5,484,004 K400E probably damaging Het
Nomo1 T A 7: 46,062,999 I656N possibly damaging Het
Oas3 T C 5: 120,769,319 T418A probably benign Het
Olfr1034 T C 2: 86,046,584 M34T probably benign Het
Olfr1066 T A 2: 86,455,789 I161L probably benign Het
Olfr147 T A 9: 38,403,305 C144S probably benign Het
Olfr301 C T 7: 86,413,270 L303F probably benign Het
Olfr936 A G 9: 39,047,107 V104A probably damaging Het
Olr1 A G 6: 129,493,541 L221P probably damaging Het
Pih1d1 C T 7: 45,156,314 A69V probably damaging Het
Pkdrej A C 15: 85,819,766 S656R probably damaging Het
Polr3f A G 2: 144,536,023 D171G probably damaging Het
Rasal1 T C 5: 120,649,501 V11A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,579,909 probably benign Het
Sptbn4 T A 7: 27,364,170 Y2277F probably damaging Het
St6galnac6 A G 2: 32,612,228 Q7R probably damaging Het
Thrsp T G 7: 97,417,292 D71A possibly damaging Het
Vmn2r1 C A 3: 64,081,729 Q30K probably benign Het
Vmn2r125 C A 4: 156,351,101 A258D probably benign Het
Wipf2 C T 11: 98,896,179 P345S probably benign Het
Zeb2 G T 2: 44,988,640 S1170* probably null Het
Zfp947 A G 17: 22,147,434 Y38H probably damaging Het
Other mutations in Dcun1d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0432:Dcun1d3 UTSW 7 119857950 nonsense probably null
R1219:Dcun1d3 UTSW 7 119859408 missense probably damaging 0.99
R1344:Dcun1d3 UTSW 7 119857935 missense probably damaging 1.00
R1418:Dcun1d3 UTSW 7 119857935 missense probably damaging 1.00
R4115:Dcun1d3 UTSW 7 119859734 missense probably benign
R4654:Dcun1d3 UTSW 7 119859519 missense probably damaging 1.00
R4784:Dcun1d3 UTSW 7 119857664 missense probably damaging 1.00
R5112:Dcun1d3 UTSW 7 119858027 missense probably damaging 0.98
R5732:Dcun1d3 UTSW 7 119858033 missense probably benign 0.06
R5935:Dcun1d3 UTSW 7 119859576 missense probably benign
R6037:Dcun1d3 UTSW 7 119857742 missense probably damaging 1.00
R6224:Dcun1d3 UTSW 7 119859491 nonsense probably null
R7289:Dcun1d3 UTSW 7 119859641 missense possibly damaging 0.56
R7311:Dcun1d3 UTSW 7 119859511 missense probably damaging 0.96
R7658:Dcun1d3 UTSW 7 119857668 missense probably damaging 1.00
RF007:Dcun1d3 UTSW 7 119859503 missense possibly damaging 0.72
Predicted Primers
Posted On2017-06-26