Incidental Mutation 'IGL00336:Dcun1d1'
ID 6914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcun1d1
Ensembl Gene ENSMUSG00000027708
Gene Name DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
Synonyms SCCRO, Tes3, Rp42, pTes3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.665) question?
Stock # IGL00336
Quality Score
Status
Chromosome 3
Chromosomal Location 35892105-35937445 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35916306 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 130 (E130G)
Ref Sequence ENSEMBL: ENSMUSP00000143716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108182] [ENSMUST00000148465] [ENSMUST00000178098] [ENSMUST00000196270] [ENSMUST00000197489] [ENSMUST00000198362] [ENSMUST00000198389] [ENSMUST00000199173] [ENSMUST00000200661]
AlphaFold Q9QZ73
Predicted Effect possibly damaging
Transcript: ENSMUST00000108182
AA Change: E145G

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
AA Change: E145G

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 1.6e-12 PFAM
Pfam:Cullin_binding 136 247 2.2e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148465
AA Change: E130G

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
AA Change: E130G

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 2.5e-8 PFAM
Pfam:Cullin_binding 119 214 9.4e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178098
AA Change: E130G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
AA Change: E130G

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 probably benign
Transcript: ENSMUST00000196270
SMART Domains Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 8.8e-9 PFAM
PDB:3TDZ|B 47 115 3e-44 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000197489
SMART Domains Protein: ENSMUSP00000142690
Gene: ENSMUSG00000027708

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 7.5e-11 PFAM
PDB:3TDZ|B 62 89 9e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000197546
Predicted Effect probably benign
Transcript: ENSMUST00000198362
Predicted Effect possibly damaging
Transcript: ENSMUST00000198389
AA Change: E130G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
AA Change: E130G

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 3e-8 PFAM
Pfam:Cullin_binding 119 233 6.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199173
SMART Domains Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708

DomainStartEndE-ValueType
Pfam:UBA_4 1 35 8.8e-9 PFAM
PDB:3TDZ|B 47 115 3e-44 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000200661
AA Change: E130G

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
AA Change: E130G

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Dcun1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Dcun1d1 APN 3 35920965 splice site probably benign
IGL03092:Dcun1d1 APN 3 35920992 missense possibly damaging 0.88
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
R9049:Dcun1d1 UTSW 3 35897849 missense probably benign 0.02
R9351:Dcun1d1 UTSW 3 35921036 missense probably benign
X0018:Dcun1d1 UTSW 3 35921144 start codon destroyed probably null 0.99
Posted On 2012-04-20