Incidental Mutation 'R3413:Cdca7'
ID 267789
Institutional Source Beutler Lab
Gene Symbol Cdca7
Ensembl Gene ENSMUSG00000055612
Gene Name cell division cycle associated 7
Synonyms JPO1, 2310021G01Rik
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R3413 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 72306540-72317237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72315631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 365 (G365R)
Ref Sequence ENSEMBL: ENSMUSP00000099752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102691] [ENSMUST00000157019]
AlphaFold Q9D0M2
Predicted Effect probably damaging
Transcript: ENSMUST00000102691
AA Change: G365R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099752
Gene: ENSMUSG00000055612
AA Change: G365R

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 83 116 N/A INTRINSIC
low complexity region 182 193 N/A INTRINSIC
Pfam:zf-4CXXC_R1 273 371 1.9e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137880
Predicted Effect probably benign
Transcript: ENSMUST00000157019
SMART Domains Protein: ENSMUSP00000121263
Gene: ENSMUSG00000055612

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 118 151 N/A INTRINSIC
Meta Mutation Damage Score 0.3127 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Ccnb3 T A X: 6,874,040 (GRCm39) E846D probably benign Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Dnaaf6 T A X: 139,006,770 (GRCm39) N216K possibly damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hip1 T C 5: 135,451,026 (GRCm39) E451G probably damaging Het
Hs6st2 C T X: 50,770,332 (GRCm39) V50I possibly damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Tmed9 A G 13: 55,743,387 (GRCm39) E173G probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Cdca7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Cdca7 APN 2 72,314,988 (GRCm39) missense probably damaging 1.00
R0600:Cdca7 UTSW 2 72,313,811 (GRCm39) missense possibly damaging 0.49
R2265:Cdca7 UTSW 2 72,312,834 (GRCm39) missense probably benign 0.01
R3735:Cdca7 UTSW 2 72,314,209 (GRCm39) splice site probably null
R4523:Cdca7 UTSW 2 72,310,042 (GRCm39) missense probably damaging 1.00
R4627:Cdca7 UTSW 2 72,312,205 (GRCm39) small deletion probably benign
R4905:Cdca7 UTSW 2 72,312,205 (GRCm39) small deletion probably benign
R5044:Cdca7 UTSW 2 72,313,759 (GRCm39) missense probably benign
R5156:Cdca7 UTSW 2 72,309,370 (GRCm39) missense probably damaging 1.00
R5330:Cdca7 UTSW 2 72,315,042 (GRCm39) missense probably damaging 1.00
R5372:Cdca7 UTSW 2 72,312,793 (GRCm39) missense probably damaging 1.00
R5875:Cdca7 UTSW 2 72,313,901 (GRCm39) missense probably benign 0.11
R7022:Cdca7 UTSW 2 72,309,873 (GRCm39) splice site probably null
R7111:Cdca7 UTSW 2 72,315,575 (GRCm39) missense probably damaging 1.00
R9009:Cdca7 UTSW 2 72,314,273 (GRCm39) missense probably damaging 1.00
R9039:Cdca7 UTSW 2 72,312,856 (GRCm39) missense probably benign 0.00
R9054:Cdca7 UTSW 2 72,313,821 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCTTAAACAAATGAGTGGATGGAGC -3'
(R):5'- AGCCACTCAGACTTCTATCATC -3'

Sequencing Primer
(F):5'- GCATGAAGCCTAGCCTCAG -3'
(R):5'- ACTTCTATCATCTTTTATCAAGGCAC -3'
Posted On 2015-02-18