Incidental Mutation 'R1462:Cdc5l'
ID 186352
Institutional Source Beutler Lab
Gene Symbol Cdc5l
Ensembl Gene ENSMUSG00000023932
Gene Name cell division cycle 5-like
Synonyms 1200002I02Rik, PCDC5RP
MMRRC Submission 039516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R1462 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 45702809-45744633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45719288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 542 (Q542K)
Ref Sequence ENSEMBL: ENSMUSP00000024727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024727]
AlphaFold Q6A068
Predicted Effect possibly damaging
Transcript: ENSMUST00000024727
AA Change: Q542K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: Q542K

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 0.0701 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,642,370 (GRCm39) S104* probably null Het
A430093F15Rik A T 19: 10,762,845 (GRCm39) probably benign Het
Abca13 T A 11: 9,433,924 (GRCm39) probably benign Het
Abca9 T C 11: 110,051,342 (GRCm39) D118G probably benign Het
Adamts16 A G 13: 70,984,253 (GRCm39) F137L probably benign Het
Adamts3 T C 5: 90,009,208 (GRCm39) I152V probably benign Het
Adcy4 T A 14: 56,015,765 (GRCm39) E441D possibly damaging Het
Adgra1 T A 7: 139,455,745 (GRCm39) Y458N probably damaging Het
Atpaf1 C T 4: 115,642,150 (GRCm39) probably benign Het
Bhlhe22 C G 3: 18,109,946 (GRCm39) S332C probably damaging Het
Card19 T A 13: 49,358,760 (GRCm39) Q71L probably benign Het
Ccdc12 T C 9: 110,485,662 (GRCm39) L11P probably damaging Het
Cdadc1 A G 14: 59,813,307 (GRCm39) Y367H probably damaging Het
Ceacam23 T G 7: 17,649,516 (GRCm39) noncoding transcript Het
Cep170 T C 1: 176,584,211 (GRCm39) K723E possibly damaging Het
Cep70 A G 9: 99,145,773 (GRCm39) I147V probably benign Het
Cfap58 A T 19: 47,950,869 (GRCm39) H410L probably damaging Het
Chat T C 14: 32,142,735 (GRCm39) K418R probably damaging Het
Cic T G 7: 24,971,032 (GRCm39) D254E probably damaging Het
Ckap4 T C 10: 84,363,431 (GRCm39) E544G probably damaging Het
Crnkl1 C T 2: 145,763,739 (GRCm39) A500T probably damaging Het
Cyp2c38 T C 19: 39,380,632 (GRCm39) N418D probably damaging Het
Daam1 A T 12: 71,990,916 (GRCm39) I177L unknown Het
Dnah1 T C 14: 30,990,738 (GRCm39) probably benign Het
Ercc5 A G 1: 44,219,784 (GRCm39) T1019A probably damaging Het
F13b T A 1: 139,435,374 (GRCm39) V173E probably damaging Het
Fam135b A G 15: 71,493,845 (GRCm39) probably benign Het
Fam20a A C 11: 109,568,143 (GRCm39) F316V probably damaging Het
Flrt2 T C 12: 95,746,112 (GRCm39) V150A probably damaging Het
Fnta A C 8: 26,489,599 (GRCm39) probably null Het
Ghsr A G 3: 27,426,025 (GRCm39) D27G probably benign Het
Glis3 G T 19: 28,239,918 (GRCm39) probably benign Het
Gtpbp1 A G 15: 79,592,086 (GRCm39) N96D probably damaging Het
H1f7 A T 15: 98,154,454 (GRCm39) W232R unknown Het
Hycc1 A G 5: 24,190,730 (GRCm39) probably benign Het
Ibtk A T 9: 85,606,198 (GRCm39) I443N probably damaging Het
Ifi207 T C 1: 173,552,513 (GRCm39) H968R probably damaging Het
Ifit2 A G 19: 34,550,586 (GRCm39) D42G probably null Het
Il17rc A T 6: 113,455,950 (GRCm39) D265V probably damaging Het
Ints10 G A 8: 69,260,296 (GRCm39) probably benign Het
Itfg2 T C 6: 128,401,691 (GRCm39) D29G probably damaging Het
Itprid1 A G 6: 55,952,649 (GRCm39) H864R probably damaging Het
Kcng3 A T 17: 83,938,492 (GRCm39) C186S probably damaging Het
Lrrc1 A G 9: 77,349,547 (GRCm39) F295L probably benign Het
Mrps28 T A 3: 8,965,184 (GRCm39) H85L possibly damaging Het
Mtpn T A 6: 35,499,693 (GRCm39) K37M possibly damaging Het
Mug1 C T 6: 121,859,588 (GRCm39) H1196Y probably benign Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Musk A G 4: 58,286,204 (GRCm39) probably benign Het
Mybl2 T C 2: 162,914,628 (GRCm39) S249P probably benign Het
Naip6 A G 13: 100,436,748 (GRCm39) Y592H possibly damaging Het
Nrp1 A G 8: 129,229,279 (GRCm39) N919S probably benign Het
Nudt9 C T 5: 104,212,904 (GRCm39) Q326* probably null Het
Or5w13 A T 2: 87,523,720 (GRCm39) C169S probably damaging Het
Or6c76b A G 10: 129,693,100 (GRCm39) T238A probably damaging Het
Or7g17 T A 9: 18,768,407 (GRCm39) M162K probably benign Het
Or9k7 T A 10: 130,046,592 (GRCm39) I136F probably benign Het
Pcsk4 T C 10: 80,161,815 (GRCm39) E142G probably damaging Het
Pde3a C A 6: 141,405,560 (GRCm39) P471T probably benign Het
Pign A T 1: 105,512,727 (GRCm39) V652E possibly damaging Het
Prkcb T A 7: 122,181,672 (GRCm39) M420K probably damaging Het
Prr14 T A 7: 127,073,160 (GRCm39) probably null Het
Rchy1 T A 5: 92,105,741 (GRCm39) Q69L probably damaging Het
Sccpdh A C 1: 179,509,125 (GRCm39) probably benign Het
Sec23ip T G 7: 128,367,862 (GRCm39) S625A probably benign Het
Smpdl3b A G 4: 132,473,925 (GRCm39) S47P probably damaging Het
Speer4a3 T A 5: 26,156,623 (GRCm39) I119F possibly damaging Het
Stil G A 4: 114,881,161 (GRCm39) M568I probably benign Het
Syt3 T A 7: 44,045,434 (GRCm39) V558E probably damaging Het
Sytl3 A G 17: 6,973,430 (GRCm39) probably benign Het
Szt2 A G 4: 118,231,164 (GRCm39) V2533A unknown Het
Tenm4 A G 7: 96,353,360 (GRCm39) Y384C probably damaging Het
Tfam T C 10: 71,071,380 (GRCm39) E94G probably damaging Het
Tmbim7 A G 5: 3,714,304 (GRCm39) T14A probably damaging Het
Tmtc2 A T 10: 105,409,566 (GRCm39) Y15* probably null Het
Uhrf1 C T 17: 56,625,035 (GRCm39) A526V probably damaging Het
Vmn2r67 T C 7: 84,805,046 (GRCm39) D22G probably benign Het
Vmn2r96 A G 17: 18,817,660 (GRCm39) I412M possibly damaging Het
Vmn2r-ps69 T A 7: 84,959,560 (GRCm39) noncoding transcript Het
Wdr17 A T 8: 55,123,363 (GRCm39) I479K probably damaging Het
Wt1 T C 2: 104,997,176 (GRCm39) V371A probably damaging Het
Zfp536 G T 7: 37,178,735 (GRCm39) S226Y probably damaging Het
Zfp827 T C 8: 79,803,108 (GRCm39) V560A 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
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
Predicted Primers PCR Primer
(F):5'- AGACACATCTGCAATATCCTGTGCC -3'
(R):5'- TGTGTTGCCACAGAGGGTCAAG -3'

Sequencing Primer
(F):5'- GCAATATTTTCAAGACGACCTGAG -3'
(R):5'- AATAGATTGATTCCTGGAGCCTCG -3'
Posted On 2014-05-09