Incidental Mutation 'R7828:Cdc7'
ID 602433
Institutional Source Beutler Lab
Gene Symbol Cdc7
Ensembl Gene ENSMUSG00000029283
Gene Name cell division cycle 7
Synonyms Cdc7l1, muCdc7, Cdc7
MMRRC Submission 045882-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7828 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107112188-107132298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107120816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 146 (Q146L)
Ref Sequence ENSEMBL: ENSMUSP00000113385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031221] [ENSMUST00000076467] [ENSMUST00000117196] [ENSMUST00000118261] [ENSMUST00000129938]
AlphaFold Q9Z0H0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031221
AA Change: Q146L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: Q146L

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 possibly damaging
Transcript: ENSMUST00000076467
AA Change: Q146L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: Q146L

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
AA Change: Q146L

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: Q146L

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 possibly damaging
Transcript: ENSMUST00000118261
AA Change: Q146L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: Q146L

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 probably benign
Transcript: ENSMUST00000129938
AA Change: Q146L

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119612
Gene: ENSMUSG00000029283
AA Change: Q146L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 52 214 5.4e-15 PFAM
Pfam:Pkinase 52 227 3.4e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,254,904 (GRCm39) T869A probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arid1b C A 17: 5,147,943 (GRCm39) P615Q probably damaging Het
Asb16 C A 11: 102,168,753 (GRCm39) Q410K probably benign Het
Ash2l T C 8: 26,313,214 (GRCm39) E335G possibly damaging Het
AU041133 C T 10: 81,987,054 (GRCm39) H236Y probably damaging Het
Bhmt T A 13: 93,754,156 (GRCm39) Y351F possibly damaging Het
Birc6 T C 17: 74,886,501 (GRCm39) S610P probably damaging Het
Cab39l T C 14: 59,737,159 (GRCm39) probably null Het
Cdk18 T C 1: 132,044,642 (GRCm39) H328R possibly damaging Het
Cdsn T C 17: 35,865,878 (GRCm39) S136P unknown Het
Ces3b T A 8: 105,813,228 (GRCm39) L203Q probably damaging Het
Cgn A G 3: 94,676,489 (GRCm39) V840A probably damaging Het
Ctse T C 1: 131,590,491 (GRCm39) L71P probably damaging Het
Ears2 G T 7: 121,647,563 (GRCm39) S240R probably benign Het
Edem3 A G 1: 151,687,386 (GRCm39) I756V possibly damaging Het
Epas1 T C 17: 87,135,127 (GRCm39) Y587H probably benign Het
Fcamr G T 1: 130,739,443 (GRCm39) A248S probably damaging Het
Gm14496 G A 2: 181,633,171 (GRCm39) W51* probably null Het
Hfm1 A T 5: 107,029,657 (GRCm39) probably null Het
Hhip T C 8: 80,724,837 (GRCm39) I312V probably benign Het
Hmcn2 C A 2: 31,295,887 (GRCm39) N2658K possibly damaging Het
Iars1 T A 13: 49,878,748 (GRCm39) M948K probably benign Het
Il27ra A G 8: 84,758,187 (GRCm39) L521S probably damaging Het
Itpr1 A G 6: 108,459,892 (GRCm39) D2062G probably damaging Het
Jag2 G T 12: 112,876,800 (GRCm39) R784S probably benign Het
Maea T A 5: 33,517,722 (GRCm39) D87E probably benign Het
Man2a2 A G 7: 80,016,674 (GRCm39) I380T probably damaging Het
Mprip G T 11: 59,627,915 (GRCm39) G253W probably damaging Het
Naglu G A 11: 100,967,436 (GRCm39) R462H probably damaging Het
Nrxn1 T A 17: 90,366,979 (GRCm39) I342F probably damaging Het
Oosp1 C A 19: 11,668,369 (GRCm39) V5L probably benign Het
Or10q3 A T 19: 11,848,169 (GRCm39) M137K probably damaging Het
Or5b113 G A 19: 13,342,510 (GRCm39) V173I probably benign Het
Or6c74 A G 10: 129,869,756 (GRCm39) D87G probably damaging Het
Or7g12 T C 9: 18,900,216 (GRCm39) S311P probably benign Het
Pbrm1 T C 14: 30,752,848 (GRCm39) M95T probably damaging Het
Pcdh17 C G 14: 84,770,425 (GRCm39) R968G probably damaging Het
Pcdhb7 T G 18: 37,476,915 (GRCm39) S684A probably damaging Het
Polr1b T G 2: 128,947,200 (GRCm39) I175R probably damaging Het
Ppp3ca A G 3: 136,503,535 (GRCm39) D36G probably damaging Het
Prr14l G A 5: 33,001,735 (GRCm39) probably benign Het
Rcn2 A T 9: 55,960,266 (GRCm39) I178F probably benign Het
Sbspon T G 1: 15,930,543 (GRCm39) K148Q probably damaging Het
Scn3a A T 2: 65,338,918 (GRCm39) V587E probably damaging Het
Setd7 T A 3: 51,444,078 (GRCm39) probably null Het
Sh2d5 C A 4: 137,984,108 (GRCm39) P85T probably benign Het
Slc12a1 T A 2: 125,008,602 (GRCm39) V204D possibly damaging Het
Slc2a8 G A 2: 32,870,080 (GRCm39) R154* probably null Het
Slc36a3 C T 11: 55,042,024 (GRCm39) G42S probably benign Het
Spink5 A G 18: 44,143,296 (GRCm39) K751R probably benign Het
Sult2a5 T A 7: 13,362,768 (GRCm39) probably null Het
Thoc5 T C 11: 4,852,306 (GRCm39) probably benign Het
Ttn A G 2: 76,805,381 (GRCm39) S153P probably damaging Het
Ubap2 A T 4: 41,221,615 (GRCm39) L228Q probably benign Het
Upk3b G A 5: 136,068,993 (GRCm39) G121S possibly damaging Het
Usp1 T A 4: 98,820,544 (GRCm39) S456R probably damaging Het
Usp28 A T 9: 48,915,202 (GRCm39) N126Y possibly damaging Het
Wdfy4 C T 14: 32,710,878 (GRCm39) V2411M possibly damaging Het
Zfp595 C T 13: 67,465,769 (GRCm39) E165K probably damaging 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
R0563:Cdc7 UTSW 5 107,120,776 (GRCm39) splice site probably benign
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
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'- GTGTGTACAACCTTCCCTCTAAAATTC -3'
(R):5'- ACAGCGTGCATTCAACTGC -3'

Sequencing Primer
(F):5'- CATGGGACTTAAGTACTGCTTCAG -3'
(R):5'- CAGCGTGCATTCAACTGCTAATG -3'
Posted On 2019-12-03