Incidental Mutation 'IGL03092:Dcun1d1'
ID418411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcun1d1
Ensembl Gene ENSMUSG00000027708
Gene NameDCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
SynonymsSCCRO, Tes3, Rp42, pTes3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.735) question?
Stock #IGL03092
Quality Score
Status
Chromosome3
Chromosomal Location35892105-35937445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 35920992 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 52 (Q52K)
Ref Sequence ENSEMBL: ENSMUSP00000142384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108182] [ENSMUST00000148465] [ENSMUST00000178098] [ENSMUST00000196270] [ENSMUST00000197489] [ENSMUST00000198362] [ENSMUST00000198389] [ENSMUST00000199173] [ENSMUST00000200661]
Predicted Effect probably benign
Transcript: ENSMUST00000108182
AA Change: Q67K

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
AA Change: Q67K

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 1.6e-12 PFAM
Pfam:Cullin_binding 136 247 2.2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148465
AA Change: Q52K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
AA Change: Q52K

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 2.5e-8 PFAM
Pfam:Cullin_binding 119 214 9.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178098
AA Change: Q52K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
AA Change: Q52K

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 3e-8 PFAM
Pfam:Cullin_binding 119 233 6.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196263
Predicted Effect possibly damaging
Transcript: ENSMUST00000196270
AA Change: Q52K

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708
AA Change: Q52K

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 8.8e-9 PFAM
PDB:3TDZ|B 47 115 3e-44 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000197489
AA Change: Q67K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142690
Gene: ENSMUSG00000027708
AA Change: Q67K

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 7.5e-11 PFAM
PDB:3TDZ|B 62 89 9e-12 PDB
Predicted Effect unknown
Transcript: ENSMUST00000197546
AA Change: Q66K
Predicted Effect probably benign
Transcript: ENSMUST00000198362
Predicted Effect probably benign
Transcript: ENSMUST00000198389
AA Change: Q52K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
AA Change: Q52K

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 3e-8 PFAM
Pfam:Cullin_binding 119 233 6.7e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199173
AA Change: Q52K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708
AA Change: Q52K

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 8.8e-9 PFAM
PDB:3TDZ|B 47 115 3e-44 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000200661
AA Change: Q52K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
AA Change: Q52K

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 5e-9 PFAM
Pfam:Cullin_binding 121 220 9.9e-31 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,406,470 L491P probably damaging Het
5430419D17Rik G T 7: 131,201,798 probably null Het
Abcc6 T A 7: 45,986,470 D1051V probably damaging Het
Aqr T A 2: 114,158,943 E133V probably benign Het
Bag6 A G 17: 35,145,627 N911D probably damaging Het
BC024978 T C 7: 27,201,136 M180T probably damaging Het
Ces4a C T 8: 105,148,204 probably benign Het
Clec3b A T 9: 123,151,035 probably benign Het
Cnot1 T C 8: 95,769,615 probably benign Het
Ctsg T A 14: 56,099,960 *262L probably null Het
Cyp17a1 T A 19: 46,672,611 H78L possibly damaging Het
Dcaf13 C A 15: 39,127,976 probably benign Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dock1 A G 7: 134,765,216 probably benign Het
Dsel A G 1: 111,860,063 L914P probably damaging Het
Fbxo31 A G 8: 121,560,018 F174L probably benign Het
Gm9116 A G 3: 93,910,206 noncoding transcript Het
Gspt1 C T 16: 11,238,899 V211I probably benign Het
Hmgb1 A T 5: 149,050,698 S14T probably benign Het
Igsf8 A G 1: 172,312,529 probably benign Het
Klf13 A G 7: 63,891,669 F237L probably damaging Het
Mon2 A T 10: 123,018,100 I962N probably damaging Het
Nfx1 A G 4: 41,024,851 D1108G probably damaging Het
Nr2e1 T C 10: 42,571,482 Y178C probably damaging Het
Olfr1426 C A 19: 12,087,866 E309* probably null Het
Olfr646 A T 7: 104,106,647 I123F probably damaging Het
Pde3b A T 7: 114,523,348 H717L probably damaging Het
Polr1b T C 2: 129,123,129 Y712H probably damaging Het
Pramef25 C A 4: 143,950,197 K112N probably damaging Het
Rnf157 T A 11: 116,347,969 probably null Het
Ros1 T C 10: 52,098,806 E1561G probably damaging Het
Serpina6 A G 12: 103,653,895 probably null Het
St18 A G 1: 6,768,894 probably benign Het
Ugp2 A G 11: 21,329,722 probably benign Het
Vmn1r70 T C 7: 10,634,259 S225P probably benign Het
Zfp641 T C 15: 98,290,516 D161G probably damaging Het
Other mutations in Dcun1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Dcun1d1 APN 3 35916306 missense possibly damaging 0.80
IGL00927:Dcun1d1 APN 3 35920965 splice site probably benign
IGL03214:Dcun1d1 APN 3 35919071 missense probably damaging 1.00
deacon UTSW 3 35897785 splice site probably benign
Preacher UTSW 3 35897791 critical splice donor site probably null
LCD18:Dcun1d1 UTSW 3 35938005 unclassified probably benign
R0575:Dcun1d1 UTSW 3 35897785 splice site probably benign
R1006:Dcun1d1 UTSW 3 35897781 splice site probably benign
R1820:Dcun1d1 UTSW 3 35919004 nonsense probably null
R4714:Dcun1d1 UTSW 3 35895670 missense probably damaging 1.00
R5849:Dcun1d1 UTSW 3 35916184 intron probably benign
R6681:Dcun1d1 UTSW 3 35895670 missense probably damaging 1.00
R7312:Dcun1d1 UTSW 3 35897791 critical splice donor site probably null
R8344:Dcun1d1 UTSW 3 35897554 missense probably benign 0.05
X0018:Dcun1d1 UTSW 3 35921144 start codon destroyed probably null 0.99
Posted On2016-08-02