Incidental Mutation 'R4027:Dcun1d4'
ID 313025
Institutional Source Beutler Lab
Gene Symbol Dcun1d4
Ensembl Gene ENSMUSG00000051674
Gene Name defective in cullin neddylation 1 domain containing 4
Synonyms DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 73638353-73718137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73691980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000119983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063882] [ENSMUST00000087181] [ENSMUST00000113558] [ENSMUST00000133137] [ENSMUST00000134092] [ENSMUST00000136268] [ENSMUST00000145645]
AlphaFold Q8CCA0
Predicted Effect probably benign
Transcript: ENSMUST00000063882
AA Change: D149G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000067616
Gene: ENSMUSG00000051674
AA Change: D149G

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
Pfam:Cullin_binding 173 287 3.4e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087181
AA Change: D163G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084427
Gene: ENSMUSG00000051674
AA Change: D163G

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
Pfam:Cullin_binding 189 300 1.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113558
AA Change: D149G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109187
Gene: ENSMUSG00000051674
AA Change: D149G

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
Pfam:Cullin_binding 203 252 2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130087
SMART Domains Protein: ENSMUSP00000118392
Gene: ENSMUSG00000051674

DomainStartEndE-ValueType
PDB:3KEV|A 44 109 3e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000133137
SMART Domains Protein: ENSMUSP00000120055
Gene: ENSMUSG00000051674

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134092
SMART Domains Protein: ENSMUSP00000118710
Gene: ENSMUSG00000051674

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136268
AA Change: D89G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119983
Gene: ENSMUSG00000051674
AA Change: D89G

DomainStartEndE-ValueType
PDB:4GBA|B 42 104 2e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000145645
AA Change: D89G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122689
Gene: ENSMUSG00000051674
AA Change: D89G

DomainStartEndE-ValueType
PDB:4GBA|B 42 101 1e-7 PDB
Meta Mutation Damage Score 0.0795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign Het
Other mutations in Dcun1d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Dcun1d4 APN 5 73,638,544 (GRCm39) splice site probably benign
IGL02345:Dcun1d4 APN 5 73,668,495 (GRCm39) missense probably damaging 0.99
IGL03264:Dcun1d4 APN 5 73,677,572 (GRCm39) missense probably benign 0.00
PIT4402001:Dcun1d4 UTSW 5 73,668,276 (GRCm39) missense probably benign 0.09
R1184:Dcun1d4 UTSW 5 73,668,455 (GRCm39) splice site probably benign
R2266:Dcun1d4 UTSW 5 73,638,618 (GRCm39) splice site probably benign
R2267:Dcun1d4 UTSW 5 73,638,618 (GRCm39) splice site probably benign
R2268:Dcun1d4 UTSW 5 73,638,618 (GRCm39) splice site probably benign
R2269:Dcun1d4 UTSW 5 73,638,618 (GRCm39) splice site probably benign
R4029:Dcun1d4 UTSW 5 73,691,980 (GRCm39) missense probably damaging 0.97
R4031:Dcun1d4 UTSW 5 73,691,980 (GRCm39) missense probably damaging 0.97
R4788:Dcun1d4 UTSW 5 73,691,971 (GRCm39) missense probably damaging 1.00
R4961:Dcun1d4 UTSW 5 73,701,463 (GRCm39) nonsense probably null
R5245:Dcun1d4 UTSW 5 73,714,657 (GRCm39) missense probably benign 0.11
R5284:Dcun1d4 UTSW 5 73,680,025 (GRCm39) splice site probably null
R5457:Dcun1d4 UTSW 5 73,688,908 (GRCm39) missense probably damaging 1.00
R5728:Dcun1d4 UTSW 5 73,677,491 (GRCm39) missense possibly damaging 0.61
R6469:Dcun1d4 UTSW 5 73,691,957 (GRCm39) missense probably damaging 0.99
R6813:Dcun1d4 UTSW 5 73,678,300 (GRCm39) missense possibly damaging 0.90
R7165:Dcun1d4 UTSW 5 73,648,538 (GRCm39) splice site probably null
R7439:Dcun1d4 UTSW 5 73,648,879 (GRCm39) critical splice donor site probably null
R8706:Dcun1d4 UTSW 5 73,714,658 (GRCm39) missense probably damaging 1.00
R8730:Dcun1d4 UTSW 5 73,688,832 (GRCm39) splice site probably benign
R8768:Dcun1d4 UTSW 5 73,678,310 (GRCm39) missense probably benign 0.03
R9326:Dcun1d4 UTSW 5 73,680,018 (GRCm39) missense probably benign
R9496:Dcun1d4 UTSW 5 73,668,272 (GRCm39) missense probably damaging 0.98
X0063:Dcun1d4 UTSW 5 73,712,781 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGTCAAACCCAGACTCACTCAG -3'
(R):5'- AAGGGAGGCTTGCTACACTACC -3'

Sequencing Primer
(F):5'- AGACTCACTCAGTTTTGAAGCC -3'
(R):5'- ATGTCCTAAGTTCCCAGGAGC -3'
Posted On 2015-04-30