Incidental Mutation 'IGL01629:Cdc5l'
ID92876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc5l
Ensembl Gene ENSMUSG00000023932
Gene Namecell division cycle 5-like (S. pombe)
SynonymsPCDC5RP, 1200002I02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL01629
Quality Score
Status
Chromosome17
Chromosomal Location45391892-45433707 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45413190 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 391 (D391E)
Ref Sequence ENSEMBL: ENSMUSP00000024727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024727]
Predicted Effect probably benign
Transcript: ENSMUST00000024727
AA Change: D391E

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: D391E

DomainStartEndE-ValueType
SANT 7 56 4.41e-15 SMART
SANT 59 106 6.29e-11 SMART
coiled coil region 150 181 N/A INTRINSIC
Blast:SANT 187 233 5e-23 BLAST
low complexity region 258 271 N/A INTRINSIC
Pfam:Myb_Cef 404 655 3.1e-85 PFAM
low complexity region 706 718 N/A INTRINSIC
coiled coil region 764 802 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik T A 8: 3,381,942 C168S possibly damaging Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Adm2 T A 15: 89,323,402 probably null Het
Alox12 G A 11: 70,242,834 P555S probably damaging Het
Alpk2 A G 18: 65,300,042 S1798P probably damaging Het
Amfr T A 8: 93,987,508 probably null Het
Atxn7l3 A T 11: 102,292,494 probably benign Het
Ccdc191 A G 16: 43,959,300 K707E possibly damaging Het
Cmtm2b T C 8: 104,329,788 S110P possibly damaging Het
Cyp2j8 T C 4: 96,499,603 D207G probably damaging Het
Ddhd2 A G 8: 25,735,828 F501L possibly damaging Het
Dnah1 C T 14: 31,292,320 V1823M probably damaging Het
Gjb4 T C 4: 127,351,626 D174G possibly damaging Het
Gm10471 C T 5: 26,085,702 S157N probably damaging Het
Gm45213 A G 7: 66,062,214 D58G probably damaging Het
Hes1 C T 16: 30,066,158 probably benign Het
Krt33b T A 11: 100,029,560 Q89L probably benign Het
Llcfc1 C A 6: 41,684,525 S3Y possibly damaging Het
Ltf A G 9: 111,035,806 N569S probably damaging Het
Mknk1 T A 4: 115,875,534 W320R probably damaging Het
Mrgprx3-ps T A 7: 47,309,605 K213* probably null Het
Mslnl T G 17: 25,744,775 V388G possibly damaging Het
Nfkb1 T C 3: 135,601,467 I566V probably benign Het
Npy1r G A 8: 66,704,221 V98I probably benign Het
Phf1 G T 17: 26,934,273 A22S probably benign Het
Pih1d3 T A 1: 31,222,933 probably null Het
Plcg1 T G 2: 160,758,010 F897V possibly damaging Het
Ric1 A T 19: 29,603,981 E1367D probably benign Het
Slc24a3 T C 2: 145,640,210 probably benign Het
Sorl1 A G 9: 42,057,269 probably null Het
Spink5 T C 18: 43,996,610 probably benign Het
Syne2 A G 12: 76,004,603 I4036V possibly damaging Het
Taok1 A T 11: 77,538,204 M890K possibly damaging Het
Tenm2 A T 11: 36,864,884 Y96N probably damaging Het
Ttll10 T A 4: 156,046,894 T233S probably benign Het
Vps39 G T 2: 120,323,598 L628M probably benign Het
Zfp563 G A 17: 33,104,626 R105H probably damaging Het
Other mutations in Cdc5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Cdc5l APN 17 45404676 missense probably damaging 0.98
IGL02596:Cdc5l APN 17 45424604 splice site probably benign
IGL02973:Cdc5l APN 17 45404647 missense probably benign 0.31
IGL03102:Cdc5l APN 17 45407931 missense probably damaging 0.99
IGL03113:Cdc5l APN 17 45433422 missense possibly damaging 0.47
R0255:Cdc5l UTSW 17 45415684 missense probably damaging 1.00
R0333:Cdc5l UTSW 17 45393216 splice site probably benign
R0432:Cdc5l UTSW 17 45415684 missense probably damaging 1.00
R0532:Cdc5l UTSW 17 45415684 missense probably damaging 1.00
R0551:Cdc5l UTSW 17 45415684 missense probably damaging 1.00
R0839:Cdc5l UTSW 17 45393147 missense probably benign 0.10
R1462:Cdc5l UTSW 17 45408362 missense possibly damaging 0.77
R1462:Cdc5l UTSW 17 45408362 missense possibly damaging 0.77
R1483:Cdc5l UTSW 17 45408364 missense possibly damaging 0.79
R1634:Cdc5l UTSW 17 45404706 missense probably damaging 0.99
R1751:Cdc5l UTSW 17 45407805 missense probably benign
R1954:Cdc5l UTSW 17 45426516 splice site probably null
R1955:Cdc5l UTSW 17 45426516 splice site probably null
R2197:Cdc5l UTSW 17 45407819 missense probably benign 0.00
R2229:Cdc5l UTSW 17 45407846 missense probably benign 0.04
R4060:Cdc5l UTSW 17 45410890 missense probably benign 0.00
R4061:Cdc5l UTSW 17 45410890 missense probably benign 0.00
R4064:Cdc5l UTSW 17 45410890 missense probably benign 0.00
R4172:Cdc5l UTSW 17 45419772 missense probably damaging 1.00
R4334:Cdc5l UTSW 17 45410786 missense probably benign 0.00
R5093:Cdc5l UTSW 17 45393041 missense possibly damaging 0.50
R5268:Cdc5l UTSW 17 45415585 missense probably damaging 0.99
R5729:Cdc5l UTSW 17 45426569 missense probably benign 0.39
R6190:Cdc5l UTSW 17 45408017 missense probably benign 0.08
R6462:Cdc5l UTSW 17 45393049 missense probably benign
R6540:Cdc5l UTSW 17 45426644 missense probably damaging 1.00
R7232:Cdc5l UTSW 17 45427937 critical splice donor site probably null
R7381:Cdc5l UTSW 17 45411923 missense probably benign 0.00
R7589:Cdc5l UTSW 17 45410781 missense probably benign 0.41
R8120:Cdc5l UTSW 17 45407870 missense probably benign 0.00
R8424:Cdc5l UTSW 17 45415600 missense probably benign 0.27
Posted On2013-12-09