Incidental Mutation 'R9622:Cdc5l'
ID 724909
Institutional Source Beutler Lab
Gene Symbol Cdc5l
Ensembl Gene ENSMUSG00000023932
Gene Name cell division cycle 5-like
Synonyms 1200002I02Rik, PCDC5RP
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R9622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 45702809-45744633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45715709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 634 (D634E)
Ref Sequence ENSEMBL: ENSMUSP00000024727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024727]
AlphaFold Q6A068
Predicted Effect probably benign
Transcript: ENSMUST00000024727
AA Change: D634E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: D634E

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 36,006,889 (GRCm39) K435E probably damaging Het
Acly T C 11: 100,395,785 (GRCm39) T412A probably damaging Het
Aldh3b2 T A 19: 4,029,489 (GRCm39) D287E probably benign Het
Asphd1 G A 7: 126,547,974 (GRCm39) P110S Het
Atg7 T C 6: 114,654,993 (GRCm39) L142P probably benign Het
Atp13a4 T C 16: 29,239,277 (GRCm39) I796V Het
Bbx A G 16: 50,095,022 (GRCm39) V98A probably damaging Het
Brca2 T C 5: 150,480,410 (GRCm39) S2727P probably damaging Het
Camk1 T A 6: 113,318,850 (GRCm39) D21V possibly damaging Het
Cfap418 T C 4: 10,893,304 (GRCm39) I141T possibly damaging Het
Cyfip1 A T 7: 55,528,853 (GRCm39) D275V possibly damaging Het
Cyp4a30b A G 4: 115,328,162 (GRCm39) E477G probably damaging Het
Cyp4f16 C T 17: 32,769,246 (GRCm39) P379S probably damaging Het
Dchs2 C T 3: 83,263,766 (GRCm39) Q3345* probably null Het
Dnaaf1 A G 8: 120,315,001 (GRCm39) T270A possibly damaging Het
Dnah3 A G 7: 119,561,356 (GRCm39) V334A Het
Dnhd1 T C 7: 105,353,342 (GRCm39) F2832L probably benign Het
Dock8 A G 19: 25,098,545 (GRCm39) N623S probably null Het
Eif4enif1 T C 11: 3,165,714 (GRCm39) I97T probably benign Het
Elmo1 C G 13: 20,392,310 (GRCm39) P29A probably benign Het
Erich6 G C 3: 58,544,162 (GRCm39) P142A possibly damaging Het
Fam135b T C 15: 71,397,686 (GRCm39) R125G probably damaging Het
Fcrla T A 1: 170,749,808 (GRCm39) H83L probably damaging Het
Flt3 C T 5: 147,303,841 (GRCm39) E366K possibly damaging Het
Gabbr2 C T 4: 46,724,283 (GRCm39) probably null Het
Gigyf1 T A 5: 137,522,926 (GRCm39) L809* probably null Het
Glg1 C T 8: 111,899,133 (GRCm39) G711R probably damaging Het
Gp1bb T C 16: 18,439,527 (GRCm39) E189G probably benign Het
H2-Q1 A T 17: 35,542,532 (GRCm39) I326F probably benign Het
Hoxb3 A T 11: 96,235,420 (GRCm39) K116* probably null Het
Kcnb1 T C 2: 167,030,161 (GRCm39) Y128C probably damaging Het
Kif5b G A 18: 6,225,672 (GRCm39) R171C probably damaging Het
Lcn4 G A 2: 26,561,228 (GRCm39) Q18* probably null Het
Lrp1b G A 2: 40,779,354 (GRCm39) Q2677* probably null Het
Map4k3 T A 17: 80,958,538 (GRCm39) T145S probably damaging Het
Mas1 T C 17: 13,060,898 (GRCm39) E175G probably benign Het
Metap2 T C 10: 93,707,366 (GRCm39) T202A probably benign Het
Mras A T 9: 99,275,054 (GRCm39) M131K probably benign Het
Mtor T C 4: 148,568,169 (GRCm39) V1092A probably damaging Het
Mug2 T C 6: 122,028,751 (GRCm39) S582P probably benign Het
Myo5b A G 18: 74,848,017 (GRCm39) N1085S probably damaging Het
Nav3 T C 10: 109,603,103 (GRCm39) T1149A probably benign Het
Nipbl A T 15: 8,366,373 (GRCm39) S1239T probably benign Het
Nkpd1 C A 7: 19,257,867 (GRCm39) R549S probably benign Het
Or10a3m T A 7: 108,312,677 (GRCm39) M39K probably benign Het
Or10p1 G A 10: 129,444,084 (GRCm39) H89Y probably benign Het
Or1j1 A G 2: 36,702,621 (GRCm39) L161P probably damaging Het
Or51i2 T A 7: 103,689,522 (GRCm39) V173D probably damaging Het
Pcdh18 T C 3: 49,711,229 (GRCm39) N29D probably benign Het
Pdzrn4 T C 15: 92,294,949 (GRCm39) W52R probably benign Het
Plekhb1 T C 7: 100,304,588 (GRCm39) K39E probably damaging Het
Pramel28 A G 4: 143,692,348 (GRCm39) S218P probably benign Het
Psmb4 C A 3: 94,792,285 (GRCm39) E212D probably benign Het
Rcc1l A G 5: 134,205,348 (GRCm39) L69P probably damaging Het
Robo2 T C 16: 73,729,952 (GRCm39) R1082G probably benign Het
Rorb T C 19: 18,955,115 (GRCm39) Y167C probably damaging Het
Sanbr T A 11: 23,534,590 (GRCm39) K589I probably damaging Het
Sbsn GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG GG 7: 30,452,067 (GRCm39) probably benign Het
Scaf8 T A 17: 3,248,170 (GRCm39) F1164L probably benign Het
Scn10a A T 9: 119,438,046 (GRCm39) M1940K probably benign Het
Serpinb2 A G 1: 107,452,298 (GRCm39) N292S probably benign Het
Sparcl1 C A 5: 104,234,998 (GRCm39) V506L possibly damaging Het
Stt3a A G 9: 36,661,025 (GRCm39) V262A possibly damaging Het
Syt17 C A 7: 118,036,191 (GRCm39) M58I probably benign Het
Tas2r134 A C 2: 51,518,358 (GRCm39) N279T possibly damaging Het
Tbc1d2 T C 4: 46,609,065 (GRCm39) E724G probably damaging Het
Teddm1b T A 1: 153,750,620 (GRCm39) L143Q Het
Tlk1 T A 2: 70,617,281 (GRCm39) R66S probably damaging Het
Tmem139 A T 6: 42,240,176 (GRCm39) probably null Het
Tom1l2 T C 11: 60,151,942 (GRCm39) Y155C possibly damaging Het
Trmt1l C A 1: 151,304,710 (GRCm39) S28* probably null Het
Ttf2 T C 3: 100,859,918 (GRCm39) I679V probably benign Het
Unc13b T G 4: 43,172,513 (GRCm39) F1114V Het
Vmn2r25 T A 6: 123,816,579 (GRCm39) D334V probably damaging Het
Vps13c T G 9: 67,856,715 (GRCm39) Y2581D probably damaging Het
Xkr5 A G 8: 18,984,247 (GRCm39) S432P probably benign Het
Zc2hc1b G A 10: 13,043,677 (GRCm39) P73S possibly damaging Het
Zfhx2 A C 14: 55,303,483 (GRCm39) F1500L probably benign Het
Zfp3 T G 11: 70,662,739 (GRCm39) S233A possibly damaging Het
Zmat5 T C 11: 4,687,453 (GRCm39) W169R probably damaging 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
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
R9716:Cdc5l UTSW 17 45,744,500 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACCAACCTCAAGTCTCTTTTCAAG -3'
(R):5'- GGCTGAACTATAGGCACATGG -3'

Sequencing Primer
(F):5'- ACCTCAAGTCTCTTTTCAAGTGATTC -3'
(R):5'- AGTAGCTACTCTTACCCATGGAG -3'
Posted On 2022-09-12