Incidental Mutation 'R7381:Cdc5l'
ID 572764
Institutional Source Beutler Lab
Gene Symbol Cdc5l
Ensembl Gene ENSMUSG00000023932
Gene Name cell division cycle 5-like
Synonyms 1200002I02Rik, PCDC5RP
MMRRC Submission 045463-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7381 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 45702809-45744633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45722849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 437 (A437T)
Ref Sequence ENSEMBL: ENSMUSP00000024727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024727]
AlphaFold Q6A068
Predicted Effect probably benign
Transcript: ENSMUST00000024727
AA Change: A437T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: A437T

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (88/90)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,323,122 (GRCm39) Y53H probably damaging Het
Abca8a A T 11: 109,920,913 (GRCm39) probably null Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Acsm3 A G 7: 119,380,049 (GRCm39) D462G probably damaging Het
Adam39 T A 8: 41,279,000 (GRCm39) C464S probably damaging Het
Adgra3 A G 5: 50,216,116 (GRCm39) M1T probably null Het
AI182371 T C 2: 34,975,371 (GRCm39) Y276C probably damaging Het
Ank2 T A 3: 126,730,277 (GRCm39) H719L possibly damaging Het
Ano7 G A 1: 93,323,057 (GRCm39) V466I probably benign Het
Art5 A G 7: 101,747,377 (GRCm39) L134P probably damaging Het
Atcay A G 10: 81,046,431 (GRCm39) Y298H possibly damaging Het
Atp1a4 A T 1: 172,067,682 (GRCm39) F527Y possibly damaging Het
Bpifb2 A T 2: 153,734,268 (GRCm39) M428L probably benign Het
Brinp2 A C 1: 158,073,913 (GRCm39) V736G probably benign Het
Cdx2 G A 5: 147,243,440 (GRCm39) P118L possibly damaging Het
Chpt1 G A 10: 88,311,193 (GRCm39) probably null Het
Creb3l2 T A 6: 37,312,783 (GRCm39) E417V probably damaging Het
Csnk2a1 A G 2: 152,100,614 (GRCm39) T129A probably benign Het
Dennd6b A T 15: 89,070,376 (GRCm39) L431Q possibly damaging Het
Dgkz C T 2: 91,775,180 (GRCm39) A260T probably benign Het
Dhx34 T A 7: 15,949,373 (GRCm39) T352S probably benign Het
Elp4 C T 2: 105,622,652 (GRCm39) R349Q not run Het
Emsy A C 7: 98,240,010 (GRCm39) F1228V probably damaging Het
Eps8l1 T A 7: 4,473,437 (GRCm39) probably null Het
Faf1 T A 4: 109,719,134 (GRCm39) D413E probably damaging Het
Fat3 T C 9: 16,158,283 (GRCm39) Y1109C probably damaging Het
Fbp1 T C 13: 63,012,867 (GRCm39) K314E probably benign Het
Fbxl20 A G 11: 97,981,614 (GRCm39) V358A probably benign Het
Fbxo34 C G 14: 47,767,992 (GRCm39) R502G probably benign Het
Fxr2 G A 11: 69,532,875 (GRCm39) C151Y possibly damaging Het
Garin5b C A 7: 4,760,681 (GRCm39) R677L Het
Gja8 T C 3: 96,827,338 (GRCm39) D108G probably benign Het
Gm10722 C A 9: 3,001,235 (GRCm39) L104I probably benign Het
Grsf1 A G 5: 88,813,666 (GRCm39) V361A probably benign Het
Gsap T A 5: 21,431,785 (GRCm39) I228N probably damaging Het
Hagh T C 17: 25,075,686 (GRCm39) I131T probably damaging Het
Heca A T 10: 17,791,272 (GRCm39) Y261* probably null Het
Hipk3 A G 2: 104,269,696 (GRCm39) F498L probably damaging Het
Hps4 T A 5: 112,523,324 (GRCm39) I614N possibly damaging Het
Icam1 T C 9: 20,938,886 (GRCm39) S450P probably benign Het
Il22 G A 10: 118,041,069 (GRCm39) M58I possibly damaging Het
Khdrbs2 T A 1: 32,372,883 (GRCm39) S186T not run Het
Kif16b A G 2: 142,699,343 (GRCm39) F79S probably damaging Het
Kntc1 C A 5: 123,948,971 (GRCm39) F1905L probably benign Het
Liat1 A T 11: 75,893,833 (GRCm39) D70V probably damaging Het
Lrp1b C T 2: 40,692,929 (GRCm39) G3423D Het
Lrp5 G T 19: 3,643,588 (GRCm39) Q1346K probably benign Het
Map3k21 A C 8: 126,671,717 (GRCm39) T1002P possibly damaging Het
Mdga2 G T 12: 66,615,670 (GRCm39) R646S probably benign Het
Mex3b G T 7: 82,518,073 (GRCm39) M129I possibly damaging Het
Mfsd10 G T 5: 34,793,770 (GRCm39) N85K probably damaging Het
Mios A G 6: 8,216,064 (GRCm39) D420G probably damaging Het
Mogs C A 6: 83,092,613 (GRCm39) P18T unknown Het
Mrgpre A G 7: 143,335,150 (GRCm39) C118R probably damaging Het
Muc4 A T 16: 32,601,285 (GRCm39) H1321L Het
Nkapl T C 13: 21,651,759 (GRCm39) K285E probably damaging Het
Nphp4 C T 4: 152,583,460 (GRCm39) P200S possibly damaging Het
Piezo1 A G 8: 123,228,397 (GRCm39) F297L Het
Pkhd1 T G 1: 20,271,197 (GRCm39) S3119R probably damaging Het
Pla2g15 G A 8: 106,889,576 (GRCm39) V283I probably benign Het
Ppp1r13l T A 7: 19,102,786 (GRCm39) probably null Het
Prex1 A G 2: 166,429,047 (GRCm39) Y849H probably damaging Het
Psg27 C A 7: 18,301,008 (GRCm39) W15L probably benign Het
Ptar1 A T 19: 23,686,334 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,135 (GRCm39) R264C probably damaging Het
Ptprb A G 10: 116,177,038 (GRCm39) I988V probably benign Het
Ptpro G A 6: 137,376,559 (GRCm39) V680I possibly damaging Het
Rnf170 C T 8: 26,613,876 (GRCm39) P28S probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Rtel1 C T 2: 180,972,608 (GRCm39) R29* probably null Het
Rtkn T C 6: 83,128,726 (GRCm39) L26P probably damaging Het
Sdk2 A C 11: 113,729,315 (GRCm39) S1087R probably damaging Het
Sema7a C T 9: 57,860,852 (GRCm39) P71L probably benign Het
Sgpp1 C T 12: 75,763,038 (GRCm39) C381Y probably damaging Het
Sis A T 3: 72,820,625 (GRCm39) probably null Het
Slc24a5 A C 2: 124,910,869 (GRCm39) D100A probably benign Het
Slc25a23 A T 17: 57,360,587 (GRCm39) I251K probably damaging Het
Slc6a5 T A 7: 49,579,804 (GRCm39) L394H probably damaging Het
Slc7a4 A T 16: 17,392,920 (GRCm39) M293K probably damaging Het
Syne2 T A 12: 75,973,263 (GRCm39) S1089T probably benign Het
Tanc1 A T 2: 59,615,670 (GRCm39) T226S probably damaging Het
Tdrd6 T C 17: 43,936,984 (GRCm39) T1355A probably benign Het
Tmem101 A G 11: 102,044,176 (GRCm39) M237T possibly damaging Het
Ttn G A 2: 76,749,359 (GRCm39) H3897Y possibly damaging Het
Tubb4a C T 17: 57,387,698 (GRCm39) V443M unknown Het
Ucp2 G A 7: 100,147,576 (GRCm39) R185H possibly damaging Het
Vmn1r116 G T 7: 20,606,436 (GRCm39) E86* probably null Het
Vmn2r37 T C 7: 9,213,032 (GRCm39) E530G probably benign Het
Vwa8 A G 14: 79,333,125 (GRCm39) T1293A probably benign Het
Zfc3h1 T A 10: 115,260,535 (GRCm39) Y1711N probably benign Het
Zfp873 A T 10: 81,896,805 (GRCm39) E512V probably damaging Het
Zfyve16 T A 13: 92,657,654 (GRCm39) K752N probably damaging Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly 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
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'- GGATCTGTACTTGATTTTGGTAGAGA -3'
(R):5'- TGTGCTCACCAAACTGAACTTC -3'

Sequencing Primer
(F):5'- ATGGCTCCGTTACTAAGAGC -3'
(R):5'- TCAGTCTTAATCAACATAACACAGTG -3'
Posted On 2019-09-13