Incidental Mutation 'R5156:Cdca7'
ID 470607
Institutional Source Beutler Lab
Gene Symbol Cdca7
Ensembl Gene ENSMUSG00000055612
Gene Name cell division cycle associated 7
Synonyms JPO1, 2310021G01Rik
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 72306540-72317237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72309370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 48 (T48S)
Ref Sequence ENSEMBL: ENSMUSP00000121263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102691] [ENSMUST00000157019]
AlphaFold Q9D0M2
Predicted Effect probably damaging
Transcript: ENSMUST00000102691
AA Change: T48S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099752
Gene: ENSMUSG00000055612
AA Change: T48S

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 probably damaging
Transcript: ENSMUST00000157019
AA Change: T48S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121263
Gene: ENSMUSG00000055612
AA Change: T48S

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 118 151 N/A INTRINSIC
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T probably benign 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
R3413:Cdca7 UTSW 2 72,315,631 (GRCm39) missense probably damaging 1.00
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
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'- TAGTCCTGTATGGCCAGAAGC -3'
(R):5'- AGGCGACACTTCAAAAGGAC -3'

Sequencing Primer
(F):5'- AAGCACCCTGTTCAATGGTG -3'
(R):5'- GGACACAATAAGCAGCTAATCTG -3'
Posted On 2017-03-23