Incidental Mutation 'IGL01585:Dbf4'
ID93357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbf4
Ensembl Gene ENSMUSG00000002297
Gene NameDBF4 zinc finger
SynonymsAsk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01585
Quality Score
Status
Chromosome5
Chromosomal Location8396973-8422716 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 8408492 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002368] [ENSMUST00000168500] [ENSMUST00000171808] [ENSMUST00000171808]
Predicted Effect probably null
Transcript: ENSMUST00000002368
SMART Domains Protein: ENSMUSP00000002368
Gene: ENSMUSG00000002297

DomainStartEndE-ValueType
Blast:BRCT 44 181 9e-85 BLAST
low complexity region 182 204 N/A INTRINSIC
ZnF_DBF 287 334 7.09e-28 SMART
low complexity region 643 657 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166364
Predicted Effect probably null
Transcript: ENSMUST00000168500
SMART Domains Protein: ENSMUSP00000132985
Gene: ENSMUSG00000002297

DomainStartEndE-ValueType
Pfam:BRCT 41 179 2e-7 PFAM
low complexity region 182 204 N/A INTRINSIC
PDB:4F9C|B 210 308 2e-42 PDB
Predicted Effect probably null
Transcript: ENSMUST00000171808
SMART Domains Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297

DomainStartEndE-ValueType
Blast:BRCT 44 181 9e-85 BLAST
low complexity region 182 204 N/A INTRINSIC
ZnF_DBF 288 335 7.09e-28 SMART
low complexity region 644 658 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000171808
SMART Domains Protein: ENSMUSP00000132906
Gene: ENSMUSG00000002297

DomainStartEndE-ValueType
Blast:BRCT 44 181 9e-85 BLAST
low complexity region 182 204 N/A INTRINSIC
ZnF_DBF 288 335 7.09e-28 SMART
low complexity region 644 658 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197442
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T G 7: 131,244,758 V637G probably damaging Het
Abca12 T C 1: 71,319,886 D587G probably benign Het
Adcy1 T A 11: 7,167,143 N1003K probably damaging Het
Alpk1 T C 3: 127,679,813 D847G probably benign Het
Atp5a1 T C 18: 77,781,058 V417A possibly damaging Het
Avp A C 2: 130,580,709 S159A probably benign Het
Brca2 C A 5: 150,539,516 A915D possibly damaging Het
Cdc42bpg G A 19: 6,320,432 R1185H possibly damaging Het
Clrn2 A G 5: 45,460,158 I124V probably benign Het
Cntn4 A T 6: 106,618,328 K469* probably null Het
Cxcl1 T A 5: 90,891,724 N70K probably damaging Het
Fbn1 A T 2: 125,360,110 V1281E probably damaging Het
Fgfr3 A T 5: 33,733,961 Q523L probably damaging Het
Golga5 A G 12: 102,479,695 K403R probably benign Het
Gpr22 A G 12: 31,709,337 I262T probably benign Het
Gstm3 G T 3: 107,966,158 Q166K probably benign Het
Ilf2 T A 3: 90,484,542 N183K probably damaging Het
Ip6k2 T A 9: 108,796,313 L40Q probably damaging Het
Itga8 A T 2: 12,160,312 probably benign Het
Lbr T A 1: 181,825,643 R70* probably null Het
Lilra6 T C 7: 3,914,499 T166A probably benign Het
Map3k4 T C 17: 12,248,959 K1063E probably damaging Het
Msi1 T C 5: 115,430,890 probably null Het
Pam A G 1: 97,864,472 V408A probably damaging Het
Plxna1 A G 6: 89,329,556 probably null Het
Ppp1r36 A T 12: 76,439,117 probably null Het
Prrt4 A G 6: 29,177,690 S27P probably benign Het
Psmg1 G A 16: 95,988,021 T112I possibly damaging Het
Rfx7 T G 9: 72,617,061 I511S probably benign Het
Ros1 G A 10: 52,155,102 T481M probably damaging Het
Scfd1 A G 12: 51,415,553 D397G probably damaging Het
Sel1l3 A G 5: 53,154,236 Y636H probably damaging Het
Sgms1 T G 19: 32,142,845 R220S probably damaging Het
Slc37a3 A T 6: 39,337,262 I472N probably damaging Het
Syne2 A G 12: 75,949,060 probably null Het
Tert T C 13: 73,634,344 V579A probably benign Het
Ush2a A T 1: 188,430,727 H1002L probably damaging Het
Other mutations in Dbf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Dbf4 APN 5 8403189 missense probably benign 0.09
IGL02582:Dbf4 APN 5 8403172 missense probably benign 0.32
IGL02711:Dbf4 APN 5 8408235 missense probably benign 0.08
PIT4362001:Dbf4 UTSW 5 8403664 missense probably benign 0.00
R1201:Dbf4 UTSW 5 8397498 missense possibly damaging 0.80
R1823:Dbf4 UTSW 5 8397539 missense probably benign 0.00
R1863:Dbf4 UTSW 5 8397375 nonsense probably null
R2237:Dbf4 UTSW 5 8408542 missense possibly damaging 0.51
R2276:Dbf4 UTSW 5 8421333 missense possibly damaging 0.91
R2279:Dbf4 UTSW 5 8421333 missense possibly damaging 0.91
R4774:Dbf4 UTSW 5 8403062 intron probably benign
R4839:Dbf4 UTSW 5 8408263 nonsense probably null
R4932:Dbf4 UTSW 5 8398039 missense probably benign
R6009:Dbf4 UTSW 5 8403718 missense probably damaging 0.99
R6141:Dbf4 UTSW 5 8408545 missense possibly damaging 0.92
R6236:Dbf4 UTSW 5 8398579 intron probably benign
R6583:Dbf4 UTSW 5 8398143 missense probably damaging 0.96
R6663:Dbf4 UTSW 5 8403184 missense probably benign 0.00
R7665:Dbf4 UTSW 5 8397867 missense probably damaging 0.99
Posted On2013-12-09