Incidental Mutation 'R5093:Cdc5l'
ID 387966
Institutional Source Beutler Lab
Gene Symbol Cdc5l
Ensembl Gene ENSMUSG00000023932
Gene Name cell division cycle 5-like
Synonyms 1200002I02Rik, PCDC5RP
MMRRC Submission 042682-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5093 (G1)
Quality Score 92
Status Validated
Chromosome 17
Chromosomal Location 45702809-45744633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45703967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 752 (F752L)
Ref Sequence ENSEMBL: ENSMUSP00000024727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024727]
AlphaFold Q6A068
Predicted Effect possibly damaging
Transcript: ENSMUST00000024727
AA Change: F752L

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: F752L

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
Meta Mutation Damage Score 0.1206 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (90/91)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,610,573 (GRCm39) probably benign Het
Abca9 A T 11: 110,032,358 (GRCm39) L753Q probably damaging Het
Acvrl1 A G 15: 101,032,628 (GRCm39) probably null Het
Adgrv1 A T 13: 81,740,704 (GRCm39) N141K probably damaging Het
Aftph C T 11: 20,659,619 (GRCm39) probably null Het
Aifm1 C T X: 47,571,637 (GRCm39) G371S probably benign Het
Aldh3b2 A G 19: 4,029,433 (GRCm39) M269V probably benign Het
Ankrd44 T C 1: 54,802,877 (GRCm39) Y207C probably damaging Het
Arhgap15 G T 2: 44,212,767 (GRCm39) M412I probably damaging Het
Auts2 A C 5: 131,468,296 (GRCm39) L783R probably damaging Het
Baiap2l1 A T 5: 144,215,363 (GRCm39) Y381N probably damaging Het
Baiap3 T C 17: 25,469,243 (GRCm39) D180G probably damaging Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Catsperg2 T C 7: 29,416,423 (GRCm39) S330G probably benign Het
Ccdc73 A T 2: 104,848,111 (GRCm39) probably benign Het
Celsr2 G T 3: 108,320,689 (GRCm39) H708N possibly damaging Het
Cep170 T A 1: 176,596,896 (GRCm39) K487M possibly damaging Het
Cerkl A T 2: 79,163,867 (GRCm39) N66K probably damaging Het
Cilk1 G A 9: 78,047,303 (GRCm39) V68I probably benign Het
Clec11a C T 7: 43,954,150 (GRCm39) A268T probably damaging Het
Ctnna2 C A 6: 77,091,912 (GRCm39) probably null Het
Diaph3 C A 14: 87,222,236 (GRCm39) R416L probably damaging Het
Dnmbp T A 19: 43,838,315 (GRCm39) N1170I probably damaging Het
Erbb2 G T 11: 98,318,279 (GRCm39) C505F probably damaging Het
Ercc6 T A 14: 32,289,479 (GRCm39) F904L probably damaging Het
Exo5 C T 4: 120,779,514 (GRCm39) G117D probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Fbxl5 A G 5: 43,930,896 (GRCm39) Y64H probably damaging Het
Gabra4 T A 5: 71,798,207 (GRCm39) M207L probably damaging Het
Galnt15 T C 14: 31,771,786 (GRCm39) L277P probably damaging Het
Gclm T C 3: 122,049,261 (GRCm39) probably null Het
Gm5493 T A 17: 22,966,201 (GRCm39) C29S possibly damaging Het
Grik3 A G 4: 125,564,382 (GRCm39) T455A probably benign Het
Grm3 A G 5: 9,639,766 (GRCm39) V93A probably benign Het
Hdgfl2 C T 17: 56,406,217 (GRCm39) A535V possibly damaging Het
Hfm1 A T 5: 107,049,597 (GRCm39) S455T probably damaging Het
Hmcn1 T A 1: 150,613,007 (GRCm39) D1424V probably benign Het
Hsd3b6 C T 3: 98,715,120 (GRCm39) V91I probably benign Het
Igdcc4 G A 9: 65,030,039 (GRCm39) S363N possibly damaging Het
Intu T C 3: 40,647,347 (GRCm39) V740A probably benign Het
Itga2 C T 13: 114,992,717 (GRCm39) V838I probably benign Het
Kif9 A G 9: 110,318,965 (GRCm39) E143G probably damaging Het
Kmt2c T A 5: 25,614,205 (GRCm39) I172F probably benign Het
Kmt2d G A 15: 98,754,043 (GRCm39) R21W probably damaging Het
Mdh1b A T 1: 63,750,620 (GRCm39) D449E probably benign Het
Meis1 T C 11: 18,831,785 (GRCm39) I418V probably benign Het
Nags T A 11: 102,037,395 (GRCm39) M162K probably damaging Het
Nufip1 A G 14: 76,348,413 (GRCm39) D14G probably benign Het
Or2l13 T A 16: 19,306,227 (GRCm39) I213N probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or7g28 T G 9: 19,272,274 (GRCm39) I126L probably damaging Het
Osmr A C 15: 6,850,560 (GRCm39) V681G probably damaging Het
Paxip1 G T 5: 27,971,282 (GRCm39) Q356K unknown Het
Pcdhac1 T A 18: 37,223,595 (GRCm39) F136Y probably damaging Het
Pla2g6 A G 15: 79,171,328 (GRCm39) V699A probably benign Het
Plcb3 A T 19: 6,943,578 (GRCm39) V107E probably damaging Het
Plch1 T A 3: 63,681,136 (GRCm39) I164F probably damaging Het
Plpp3 A T 4: 105,052,077 (GRCm39) I73F probably damaging Het
Plscr5 G A 9: 92,080,574 (GRCm39) R20Q probably benign Het
Prdm10 G A 9: 31,252,779 (GRCm39) R504Q probably damaging Het
Prss58 T C 6: 40,874,751 (GRCm39) Y30C probably damaging Het
Psg19 T A 7: 18,530,894 (GRCm39) T87S probably benign Het
Ptpn22 T G 3: 103,789,418 (GRCm39) M294R probably benign Het
Rai1 T A 11: 60,079,482 (GRCm39) M1182K probably benign Het
Sez6 T A 11: 77,867,388 (GRCm39) V795D possibly damaging Het
Shcbp1 A G 8: 4,789,214 (GRCm39) V535A possibly damaging Het
Skint9 A G 4: 112,246,447 (GRCm39) Y222H probably benign Het
Slc13a3 T A 2: 165,253,816 (GRCm39) I446F probably damaging Het
Slc2a3 C T 6: 122,714,196 (GRCm39) R57H probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Spata31d1b A T 13: 59,863,838 (GRCm39) N329Y possibly damaging Het
Strbp C T 2: 37,517,499 (GRCm39) R192K probably damaging Het
Tctn3 A T 19: 40,600,548 (GRCm39) L14Q probably damaging Het
Tenm2 T A 11: 36,834,989 (GRCm39) D2V probably damaging Het
Tln2 T G 9: 67,241,596 (GRCm39) K1003T probably benign Het
Tmem63b T C 17: 45,971,800 (GRCm39) E805G probably damaging Het
Trhr A T 15: 44,060,980 (GRCm39) N167Y probably damaging Het
Trpc2 A G 7: 101,744,390 (GRCm39) R721G probably benign Het
Ttn C A 2: 76,701,267 (GRCm39) probably benign Het
Wdr91 A G 6: 34,869,288 (GRCm39) I412T probably damaging Het
Zcchc4 T A 5: 52,953,952 (GRCm39) S211T 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
IGL03113:Cdc5l APN 17 45,744,348 (GRCm39) missense possibly damaging 0.47
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
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
Predicted Primers PCR Primer
(F):5'- CTGAGAAGAGTCTTCAGAGCAGC -3'
(R):5'- CCAGATAAACAGGGGTCACATG -3'

Sequencing Primer
(F):5'- CTTCAGAGCAGCAATCGTTG -3'
(R):5'- ACAGGGGTCACATGACAAC -3'
Posted On 2016-06-06