Incidental Mutation 'R3112:Cdc7'
ID 263728
Institutional Source Beutler Lab
Gene Symbol Cdc7
Ensembl Gene ENSMUSG00000029283
Gene Name cell division cycle 7 (S. cerevisiae)
Synonyms Cdc7, muCdc7, Cdc7l1
MMRRC Submission 040585-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3112 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 106964322-106984432 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 106974698 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031221] [ENSMUST00000076467] [ENSMUST00000117196] [ENSMUST00000118261] [ENSMUST00000129938]
AlphaFold Q9Z0H0
Predicted Effect probably null
Transcript: ENSMUST00000031221
SMART Domains Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283

Pfam:Pkinase_Tyr 52 212 1.7e-14 PFAM
Pfam:Pkinase 52 216 4.4e-27 PFAM
Pfam:Pkinase 351 559 1.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076467
SMART Domains Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283

Pfam:Pkinase_Tyr 52 214 1.7e-14 PFAM
Pfam:Pkinase 52 227 1.1e-25 PFAM
Pfam:Pkinase 314 520 2.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117196
SMART Domains Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283

Pfam:Pkinase_Tyr 52 214 1e-14 PFAM
Pfam:Pkinase 52 227 6.6e-26 PFAM
Pfam:Pkinase 313 527 4.5e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000118261
SMART Domains Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283

Pfam:Pkinase_Tyr 52 214 1.2e-14 PFAM
Pfam:Pkinase 52 227 7.4e-26 PFAM
Pfam:Pkinase 345 559 5.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123546
Predicted Effect probably benign
Transcript: ENSMUST00000129938
SMART Domains Protein: ENSMUSP00000119612
Gene: ENSMUSG00000029283

Pfam:Pkinase_Tyr 52 214 5.4e-15 PFAM
Pfam:Pkinase 52 227 3.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199223
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5-E6.5. In conjunction with a Trp53-null allele, double homozygous mutant embryos survive up to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T G 2: 111,228,054 (GRCm38) L131F probably damaging Het
Abca6 T A 11: 110,178,829 (GRCm38) K1554* probably null Het
Acads T C 5: 115,117,698 (GRCm38) H26R probably benign Het
Acer1 G A 17: 56,958,406 (GRCm38) T141I probably damaging Het
Adam15 C G 3: 89,347,457 (GRCm38) V99L probably benign Het
Ankrd13b A G 11: 77,477,505 (GRCm38) V97A possibly damaging Het
Anpep T C 7: 79,841,972 (GRCm38) T94A probably benign Het
Atp1a3 T C 7: 24,994,694 (GRCm38) N345S probably damaging Het
Btn1a1 T A 13: 23,461,551 (GRCm38) N216I possibly damaging Het
Cacna1s G A 1: 136,075,093 (GRCm38) W62* probably null Het
Ccdc141 C T 2: 77,039,486 (GRCm38) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm38) I278K possibly damaging Het
Cpb1 C T 3: 20,265,357 (GRCm38) V188M probably damaging Het
Dock5 A G 14: 67,857,922 (GRCm38) I101T possibly damaging Het
Dqx1 T C 6: 83,058,972 (GRCm38) V95A probably damaging Het
Dvl1 T A 4: 155,853,666 (GRCm38) D90E probably damaging Het
Fam135b T C 15: 71,464,030 (GRCm38) I438M probably benign Het
Fam57a A G 11: 76,202,231 (GRCm38) D33G probably benign Het
Fpr1 A T 17: 17,876,635 (GRCm38) M364K probably benign Het
Gm14139 C G 2: 150,192,221 (GRCm38) P185R probably damaging Het
Gm7030 T C 17: 36,129,146 (GRCm38) Y32C probably damaging Het
Gpat4 G A 8: 23,180,155 (GRCm38) P286L probably damaging Het
Gpx7 C A 4: 108,403,273 (GRCm38) V109F probably damaging Het
Grhl2 T C 15: 37,336,347 (GRCm38) probably null Het
Grn A G 11: 102,433,243 (GRCm38) T53A probably benign Het
Hist1h1e T C 13: 23,621,846 (GRCm38) probably benign Het
Hmgxb3 T C 18: 61,147,382 (GRCm38) N683S probably damaging Het
Iigp1 T C 18: 60,390,911 (GRCm38) I367T probably benign Het
Itfg2 T C 6: 128,411,669 (GRCm38) E285G probably damaging Het
Itgav T A 2: 83,792,571 (GRCm38) C662* probably null Het
Jarid2 T A 13: 44,906,276 (GRCm38) N661K probably damaging Het
Lipe T C 7: 25,398,423 (GRCm38) T32A probably benign Het
Lrrk2 A G 15: 91,814,695 (GRCm38) Y2475C probably benign Het
Mcc T C 18: 44,449,263 (GRCm38) D607G probably damaging Het
Mip T A 10: 128,226,006 (GRCm38) L42* probably null Het
Mlc1 A T 15: 88,965,996 (GRCm38) D192E probably benign Het
Muc2 T C 7: 141,745,488 (GRCm38) probably benign Het
Mybl1 T C 1: 9,681,870 (GRCm38) D260G probably damaging Het
Ncln C T 10: 81,487,685 (GRCm38) V51I probably benign Het
Nlrp9a T C 7: 26,557,872 (GRCm38) V305A probably benign Het
Nodal G A 10: 61,424,497 (GRCm38) R309Q possibly damaging Het
Olfr1338 A T 4: 118,754,224 (GRCm38) F105I probably damaging Het
Olfr294 T C 7: 86,615,676 (GRCm38) Y323C probably benign Het
Olfr536 A G 7: 140,503,919 (GRCm38) I180T probably damaging Het
Olr1 T C 6: 129,499,918 (GRCm38) N128S possibly damaging Het
Orc1 T A 4: 108,604,560 (GRCm38) C585S probably benign Het
Pcmtd2 A T 2: 181,855,129 (GRCm38) I300F probably damaging Het
Pfkfb4 C T 9: 109,025,042 (GRCm38) probably benign Het
Phactr3 T A 2: 178,279,017 (GRCm38) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm38) T612A probably benign Het
Plch1 T A 3: 63,709,531 (GRCm38) D766V probably damaging Het
Plekhh3 T C 11: 101,164,147 (GRCm38) probably benign Het
Ppp1r12b T A 1: 134,872,832 (GRCm38) T547S probably damaging Het
Prkcb T A 7: 122,516,856 (GRCm38) M186K probably damaging Het
Prpf3 A T 3: 95,849,800 (GRCm38) probably benign Het
Psg23 T C 7: 18,610,444 (GRCm38) D362G possibly damaging Het
Reg3a T C 6: 78,381,131 (GRCm38) L15P probably damaging Het
Scrib A T 15: 76,069,374 (GRCm38) I5N probably damaging Het
Speg C T 1: 75,422,682 (GRCm38) Q2005* probably null Het
Sppl3 A T 5: 115,074,864 (GRCm38) S51C possibly damaging Het
Sspo A G 6: 48,457,600 (GRCm38) T1009A probably damaging Het
Syce1l A G 8: 113,654,947 (GRCm38) Q164R probably benign Het
Sympk T C 7: 19,034,484 (GRCm38) V126A possibly damaging Het
Tas2r110 T A 6: 132,868,024 (GRCm38) I6K unknown Het
Tas2r120 A T 6: 132,657,768 (GRCm38) H271L probably damaging Het
Tnn T A 1: 160,116,286 (GRCm38) T986S possibly damaging Het
Trim5 T C 7: 104,279,638 (GRCm38) H32R probably damaging Het
Ttc13 A G 8: 124,683,834 (GRCm38) I360T possibly damaging Het
Uaca A G 9: 60,871,499 (GRCm38) E1054G probably damaging Het
Usp16 T A 16: 87,471,848 (GRCm38) probably null Het
Wee1 T A 7: 110,130,836 (GRCm38) S382R probably damaging Het
Wnt11 T C 7: 98,846,564 (GRCm38) S92P probably damaging Het
Zfp786 A G 6: 47,820,226 (GRCm38) C593R probably damaging Het
Zfp879 T G 11: 50,833,162 (GRCm38) I283L possibly damaging Het
Other mutations in Cdc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Cdc7 APN 5 106,968,860 (GRCm38) missense probably benign
IGL01671:Cdc7 APN 5 106,983,245 (GRCm38) missense probably damaging 1.00
IGL03373:Cdc7 APN 5 106,972,919 (GRCm38) splice site probably benign
R0179:Cdc7 UTSW 5 106,965,039 (GRCm38) missense probably benign 0.02
R0563:Cdc7 UTSW 5 106,972,910 (GRCm38) splice site probably benign
R1621:Cdc7 UTSW 5 106,965,054 (GRCm38) missense probably benign
R1970:Cdc7 UTSW 5 106,973,074 (GRCm38) splice site probably benign
R2044:Cdc7 UTSW 5 106,983,132 (GRCm38) missense probably benign
R2993:Cdc7 UTSW 5 106,973,898 (GRCm38) missense probably benign
R3110:Cdc7 UTSW 5 106,974,698 (GRCm38) critical splice donor site probably null
R4700:Cdc7 UTSW 5 106,973,841 (GRCm38) missense probably benign 0.00
R5396:Cdc7 UTSW 5 106,969,297 (GRCm38) splice site probably null
R6217:Cdc7 UTSW 5 106,972,794 (GRCm38) missense probably damaging 1.00
R6258:Cdc7 UTSW 5 106,969,227 (GRCm38) missense probably damaging 1.00
R6285:Cdc7 UTSW 5 106,983,059 (GRCm38) missense probably benign 0.00
R6609:Cdc7 UTSW 5 106,973,058 (GRCm38) missense probably benign 0.04
R7828:Cdc7 UTSW 5 106,972,950 (GRCm38) missense possibly damaging 0.67
R8518:Cdc7 UTSW 5 106,972,998 (GRCm38) missense probably damaging 1.00
R9748:Cdc7 UTSW 5 106,975,539 (GRCm38) missense possibly damaging 0.82
V8831:Cdc7 UTSW 5 106,968,910 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-02-05