Incidental Mutation 'IGL01671:Cdc7'
ID103483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc7
Ensembl Gene ENSMUSG00000029283
Gene Namecell division cycle 7 (S. cerevisiae)
SynonymsCdc7, muCdc7, Cdc7l1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01671
Quality Score
Status
Chromosome5
Chromosomal Location106964322-106984432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 106983245 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 529 (P529S)
Ref Sequence ENSEMBL: ENSMUSP00000113385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031221] [ENSMUST00000076467] [ENSMUST00000117196] [ENSMUST00000118261] [ENSMUST00000129938]
Predicted Effect probably damaging
Transcript: ENSMUST00000031221
AA Change: P529S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: P529S

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 damaging
Transcript: ENSMUST00000076467
AA Change: P490S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: P490S

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 damaging
Transcript: ENSMUST00000117196
AA Change: P497S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: P497S

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 damaging
Transcript: ENSMUST00000118261
AA Change: P529S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: P529S

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
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Defb45 T C 2: 152,593,411 K26E probably benign Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Egln1 T C 8: 124,910,715 D399G probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gad2 T A 2: 22,623,699 Y49* probably null Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
H2-M1 T C 17: 36,670,438 E235G probably damaging Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Rhcg A C 7: 79,598,551 I435S probably benign Het
Slc9c1 A T 16: 45,560,315 T535S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 probably benign Het
Other mutations in Cdc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Cdc7 APN 5 106968860 missense probably benign
IGL03373:Cdc7 APN 5 106972919 splice site probably benign
R0179:Cdc7 UTSW 5 106965039 missense probably benign 0.02
R0563:Cdc7 UTSW 5 106972910 splice site probably benign
R1621:Cdc7 UTSW 5 106965054 missense probably benign
R1970:Cdc7 UTSW 5 106973074 splice site probably benign
R2044:Cdc7 UTSW 5 106983132 missense probably benign
R2993:Cdc7 UTSW 5 106973898 missense probably benign
R3110:Cdc7 UTSW 5 106974698 critical splice donor site probably null
R3112:Cdc7 UTSW 5 106974698 critical splice donor site probably null
R4700:Cdc7 UTSW 5 106973841 missense probably benign 0.00
R5396:Cdc7 UTSW 5 106969297 splice site probably null
R6217:Cdc7 UTSW 5 106972794 missense probably damaging 1.00
R6258:Cdc7 UTSW 5 106969227 missense probably damaging 1.00
R6285:Cdc7 UTSW 5 106983059 missense probably benign 0.00
R6609:Cdc7 UTSW 5 106973058 missense probably benign 0.04
V8831:Cdc7 UTSW 5 106968910 missense probably benign 0.01
Posted On2014-01-21