Incidental Mutation 'R0563:Cdc7'
ID 46004
Institutional Source Beutler Lab
Gene Symbol Cdc7
Ensembl Gene ENSMUSG00000029283
Gene Name cell division cycle 7
Synonyms Cdc7l1, muCdc7, Cdc7
MMRRC Submission 038754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0563 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107112188-107132298 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 107120776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031221] [ENSMUST00000076467] [ENSMUST00000117196] [ENSMUST00000118261] [ENSMUST00000129938]
AlphaFold Q9Z0H0
Predicted Effect probably benign
Transcript: ENSMUST00000031221
SMART Domains Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000118261
SMART Domains Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,635 (GRCm39) P146T probably damaging Het
Ambn A C 5: 88,611,309 (GRCm39) N163T probably benign Het
Ankrd36 A T 11: 5,579,322 (GRCm39) E870D probably benign Het
Cdc123 T C 2: 5,803,212 (GRCm39) N269S probably benign Het
Cdh2 A T 18: 16,762,738 (GRCm39) V402D possibly damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Dcdc5 G A 2: 106,180,035 (GRCm39) noncoding transcript Het
Eif4g3 T C 4: 137,903,151 (GRCm39) probably benign Het
Elovl4 C T 9: 83,667,087 (GRCm39) probably null Het
Fhl5 T G 4: 25,213,610 (GRCm39) I109L probably damaging Het
Gm16181 A G 17: 35,442,872 (GRCm39) probably benign Het
Gna14 A G 19: 16,585,483 (GRCm39) Y287C probably benign Het
Greb1 A T 12: 16,730,268 (GRCm39) C1720S probably benign Het
Gypa T A 8: 81,236,089 (GRCm39) S165T probably benign Het
Hephl1 T C 9: 14,993,241 (GRCm39) D531G probably damaging Het
Hsf2bp A T 17: 32,226,692 (GRCm39) L221Q probably damaging Het
Itsn1 A G 16: 91,617,684 (GRCm39) probably benign Het
Kif7 T C 7: 79,352,020 (GRCm39) E914G probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrc28 T C 7: 67,195,135 (GRCm39) N225S probably damaging Het
Lysmd4 T A 7: 66,875,925 (GRCm39) L196Q probably benign Het
Megf8 T C 7: 25,041,820 (GRCm39) C1245R probably damaging Het
Mgat4f A G 1: 134,317,777 (GRCm39) K183R probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mindy2 T A 9: 70,538,334 (GRCm39) I334L possibly damaging Het
Mrm1 A G 11: 84,705,539 (GRCm39) S287P probably damaging Het
Ncor1 A G 11: 62,234,056 (GRCm39) I382T probably damaging Het
Nectin1 A G 9: 43,702,342 (GRCm39) T30A probably benign Het
Nelfe A G 17: 35,073,215 (GRCm39) E250G possibly damaging Het
Nsd1 C A 13: 55,394,391 (GRCm39) T767K possibly damaging Het
Or1i2 G A 10: 78,448,467 (GRCm39) P3S probably benign Het
Or1j18 A T 2: 36,625,013 (GRCm39) K227* probably null Het
Or4e5 T A 14: 52,727,714 (GRCm39) K236* probably null Het
Or5b111 A G 19: 13,291,112 (GRCm39) I179T probably benign Het
Pcnx1 A G 12: 81,964,718 (GRCm39) D295G probably damaging Het
Pex14 A G 4: 149,046,003 (GRCm39) V309A possibly damaging Het
Phf14 C T 6: 11,933,600 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,573,333 (GRCm39) D399G possibly damaging Het
Prim1 A G 10: 127,862,423 (GRCm39) D340G probably damaging Het
Rb1 A G 14: 73,454,207 (GRCm39) F564L probably damaging Het
Rcc1l G C 5: 134,205,394 (GRCm39) R54G probably benign Het
Rnf151 G A 17: 24,936,430 (GRCm39) probably benign Het
Rnf40 T C 7: 127,192,048 (GRCm39) L398P probably damaging Het
Robo1 C T 16: 72,769,174 (GRCm39) T531I probably benign Het
Rps6ka2 A T 17: 7,521,836 (GRCm39) I198F probably damaging Het
Sgk2 T C 2: 162,846,164 (GRCm39) L264P probably damaging Het
Slc26a6 T A 9: 108,734,869 (GRCm39) I281N probably damaging Het
Tnxb A T 17: 34,935,921 (GRCm39) K2657N probably benign Het
Tor1aip1 G A 1: 155,911,554 (GRCm39) T143M probably damaging Het
Tpr A G 1: 150,284,609 (GRCm39) D358G probably benign Het
Vstm2b T C 7: 40,551,899 (GRCm39) S76P probably damaging Het
Wdr33 A G 18: 32,019,792 (GRCm39) K488R possibly damaging Het
Ythdc2 T A 18: 44,997,915 (GRCm39) probably benign Het
Other mutations in Cdc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Cdc7 APN 5 107,116,726 (GRCm39) missense probably benign
IGL01671:Cdc7 APN 5 107,131,111 (GRCm39) missense probably damaging 1.00
IGL03373:Cdc7 APN 5 107,120,785 (GRCm39) splice site probably benign
R0179:Cdc7 UTSW 5 107,112,905 (GRCm39) missense probably benign 0.02
R1621:Cdc7 UTSW 5 107,112,920 (GRCm39) missense probably benign
R1970:Cdc7 UTSW 5 107,120,940 (GRCm39) splice site probably benign
R2044:Cdc7 UTSW 5 107,130,998 (GRCm39) missense probably benign
R2993:Cdc7 UTSW 5 107,121,764 (GRCm39) missense probably benign
R3110:Cdc7 UTSW 5 107,122,564 (GRCm39) critical splice donor site probably null
R3112:Cdc7 UTSW 5 107,122,564 (GRCm39) critical splice donor site probably null
R4700:Cdc7 UTSW 5 107,121,707 (GRCm39) missense probably benign 0.00
R5396:Cdc7 UTSW 5 107,117,163 (GRCm39) splice site probably null
R6217:Cdc7 UTSW 5 107,120,660 (GRCm39) missense probably damaging 1.00
R6258:Cdc7 UTSW 5 107,117,093 (GRCm39) missense probably damaging 1.00
R6285:Cdc7 UTSW 5 107,130,925 (GRCm39) missense probably benign 0.00
R6609:Cdc7 UTSW 5 107,120,924 (GRCm39) missense probably benign 0.04
R7828:Cdc7 UTSW 5 107,120,816 (GRCm39) missense possibly damaging 0.67
R8518:Cdc7 UTSW 5 107,120,864 (GRCm39) missense probably damaging 1.00
R9748:Cdc7 UTSW 5 107,123,405 (GRCm39) missense possibly damaging 0.82
V8831:Cdc7 UTSW 5 107,116,776 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTGTAAAATGCTTACCAAAGCTTGGC -3'
(R):5'- TCCACAGCGTGCATTCAACTGC -3'

Sequencing Primer
(F):5'- TCAGAGATGGTCAATGAGTGTTAC -3'
(R):5'- GCATTCAACTGCTAATGTTTTCTGG -3'
Posted On 2013-06-11