Incidental Mutation 'IGL03113:Cdc5l'
ID 419295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc5l
Ensembl Gene ENSMUSG00000023932
Gene Name cell division cycle 5-like
Synonyms 1200002I02Rik, PCDC5RP
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL03113
Quality Score
Status
Chromosome 17
Chromosomal Location 45702809-45744633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45744348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 5 (M5K)
Ref Sequence ENSEMBL: ENSMUSP00000024727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024727]
AlphaFold Q6A068
Predicted Effect possibly damaging
Transcript: ENSMUST00000024727
AA Change: M5K

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: M5K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181149
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,105,568 (GRCm39) V241M probably benign Het
Arhgef10 T A 8: 15,004,505 (GRCm39) I91N probably damaging Het
Arhgef17 G A 7: 100,578,938 (GRCm39) T670I probably benign Het
Barhl1 T C 2: 28,805,468 (GRCm39) D75G probably benign Het
Capn13 T C 17: 73,638,108 (GRCm39) T432A probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc175 C A 12: 72,191,557 (GRCm39) V340L probably benign Het
Cgn A G 3: 94,686,544 (GRCm39) F253L probably benign Het
Csmd1 T C 8: 16,078,712 (GRCm39) K2003R probably benign Het
Disp2 T A 2: 118,621,259 (GRCm39) probably null Het
Dnah7a T C 1: 53,472,163 (GRCm39) N3535D possibly damaging Het
Exoc3 G A 13: 74,341,232 (GRCm39) Q191* probably null Het
Fstl5 T A 3: 76,337,099 (GRCm39) Y219* probably null Het
Gad2 T A 2: 22,571,367 (GRCm39) L435Q probably benign Het
Gcnt3 A G 9: 69,941,983 (GRCm39) V195A probably damaging Het
Haus6 G A 4: 86,501,343 (GRCm39) Q843* probably null Het
Hivep2 T A 10: 14,006,395 (GRCm39) F998I probably damaging Het
Hsf5 A T 11: 87,548,190 (GRCm39) E624D probably benign Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klhl6 T A 16: 19,776,001 (GRCm39) S186C possibly damaging Het
Klk15 T C 7: 43,587,805 (GRCm39) F78L probably benign Het
Ldlr A G 9: 21,651,124 (GRCm39) E514G possibly damaging Het
Map9 T A 3: 82,267,285 (GRCm39) probably benign Het
Miga2 A T 2: 30,274,022 (GRCm39) I99F possibly damaging Het
Morc4 T C X: 138,758,605 (GRCm39) E189G probably benign Het
Nhlrc3 A T 3: 53,365,984 (GRCm39) Y170N possibly damaging Het
Or3a1b G A 11: 74,012,529 (GRCm39) R138Q probably benign Het
Or4c111 A G 2: 88,844,379 (GRCm39) F10L probably damaging Het
Or51b6b A T 7: 103,309,851 (GRCm39) V202D possibly damaging Het
Or52u1 A T 7: 104,237,940 (GRCm39) R310W probably benign Het
Or5o1 T A X: 48,815,939 (GRCm39) N291Y probably damaging Het
Or5w15 T C 2: 87,568,506 (GRCm39) Q54R probably benign Het
Or8g32 A C 9: 39,305,981 (GRCm39) K295T probably damaging Het
Pkd1l1 G A 11: 8,784,793 (GRCm39) T1997I probably benign Het
Poln A G 5: 34,274,206 (GRCm39) S377P probably benign Het
Rab22a T A 2: 173,503,265 (GRCm39) V26E probably damaging Het
Rhbdl3 T C 11: 80,244,439 (GRCm39) V382A possibly damaging Het
Slitrk3 G T 3: 72,957,723 (GRCm39) Q350K probably benign Het
Sult1d1 A T 5: 87,707,738 (GRCm39) Y127* probably null Het
Vmn1r73 A T 7: 11,490,527 (GRCm39) Y115F probably benign Het
Zfp128 T A 7: 12,624,314 (GRCm39) D227E probably benign Het
Other mutations in Cdc5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Cdc5l APN 17 45,715,602 (GRCm39) missense probably damaging 0.98
IGL01629:Cdc5l APN 17 45,724,116 (GRCm39) missense probably benign 0.26
IGL02596:Cdc5l APN 17 45,735,530 (GRCm39) splice site probably benign
IGL02973:Cdc5l APN 17 45,715,573 (GRCm39) missense probably benign 0.31
IGL03102:Cdc5l APN 17 45,718,857 (GRCm39) missense probably damaging 0.99
R0255:Cdc5l UTSW 17 45,726,610 (GRCm39) missense probably damaging 1.00
R0333:Cdc5l UTSW 17 45,704,142 (GRCm39) splice site probably benign
R0432:Cdc5l UTSW 17 45,726,610 (GRCm39) missense probably damaging 1.00
R0532:Cdc5l UTSW 17 45,726,610 (GRCm39) missense probably damaging 1.00
R0551:Cdc5l UTSW 17 45,726,610 (GRCm39) missense probably damaging 1.00
R0839:Cdc5l UTSW 17 45,704,073 (GRCm39) missense probably benign 0.10
R1462:Cdc5l UTSW 17 45,719,288 (GRCm39) missense possibly damaging 0.77
R1462:Cdc5l UTSW 17 45,719,288 (GRCm39) missense possibly damaging 0.77
R1483:Cdc5l UTSW 17 45,719,290 (GRCm39) missense possibly damaging 0.79
R1634:Cdc5l UTSW 17 45,715,632 (GRCm39) missense probably damaging 0.99
R1751:Cdc5l UTSW 17 45,718,731 (GRCm39) missense probably benign
R1954:Cdc5l UTSW 17 45,737,442 (GRCm39) splice site probably null
R1955:Cdc5l UTSW 17 45,737,442 (GRCm39) splice site probably null
R2197:Cdc5l UTSW 17 45,718,745 (GRCm39) missense probably benign 0.00
R2229:Cdc5l UTSW 17 45,718,772 (GRCm39) missense probably benign 0.04
R4060:Cdc5l UTSW 17 45,721,816 (GRCm39) missense probably benign 0.00
R4061:Cdc5l UTSW 17 45,721,816 (GRCm39) missense probably benign 0.00
R4064:Cdc5l UTSW 17 45,721,816 (GRCm39) missense probably benign 0.00
R4172:Cdc5l UTSW 17 45,730,698 (GRCm39) missense probably damaging 1.00
R4334:Cdc5l UTSW 17 45,721,712 (GRCm39) missense probably benign 0.00
R5093:Cdc5l UTSW 17 45,703,967 (GRCm39) missense possibly damaging 0.50
R5268:Cdc5l UTSW 17 45,726,511 (GRCm39) missense probably damaging 0.99
R5729:Cdc5l UTSW 17 45,737,495 (GRCm39) missense probably benign 0.39
R6190:Cdc5l UTSW 17 45,718,943 (GRCm39) missense probably benign 0.08
R6462:Cdc5l UTSW 17 45,703,975 (GRCm39) missense probably benign
R6540:Cdc5l UTSW 17 45,737,570 (GRCm39) missense probably damaging 1.00
R7232:Cdc5l UTSW 17 45,738,863 (GRCm39) critical splice donor site probably null
R7381:Cdc5l UTSW 17 45,722,849 (GRCm39) missense probably benign 0.00
R7589:Cdc5l UTSW 17 45,721,707 (GRCm39) missense probably benign 0.41
R8120:Cdc5l UTSW 17 45,718,796 (GRCm39) missense probably benign 0.00
R8424:Cdc5l UTSW 17 45,726,526 (GRCm39) missense probably benign 0.27
R8495:Cdc5l UTSW 17 45,737,449 (GRCm39) missense probably damaging 1.00
R8875:Cdc5l UTSW 17 45,703,915 (GRCm39) splice site probably benign
R8884:Cdc5l UTSW 17 45,744,467 (GRCm39) start gained probably benign
R8927:Cdc5l UTSW 17 45,721,839 (GRCm39) missense
R8928:Cdc5l UTSW 17 45,721,839 (GRCm39) missense
R8958:Cdc5l UTSW 17 45,704,127 (GRCm39) missense probably benign 0.00
R8974:Cdc5l UTSW 17 45,715,621 (GRCm39) missense possibly damaging 0.83
R9259:Cdc5l UTSW 17 45,736,817 (GRCm39) missense possibly damaging 0.69
R9622:Cdc5l UTSW 17 45,715,709 (GRCm39) missense probably benign
R9716:Cdc5l UTSW 17 45,744,500 (GRCm39) start gained probably benign
Posted On 2016-08-02