Incidental Mutation 'IGL02176:Cdca7'
ID283102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdca7
Ensembl Gene ENSMUSG00000055612
Gene Namecell division cycle associated 7
Synonyms2310021G01Rik, JPO1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL02176
Quality Score
Status
Chromosome2
Chromosomal Location72476159-72486893 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72484644 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 293 (T293A)
Ref Sequence ENSEMBL: ENSMUSP00000099752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102691] [ENSMUST00000157019]
Predicted Effect probably damaging
Transcript: ENSMUST00000102691
AA Change: T293A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099752
Gene: ENSMUSG00000055612
AA Change: T293A

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
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,970,916 R415L probably benign Het
Ankle1 C A 8: 71,406,259 H45Q probably damaging Het
Anks1b A T 10: 90,042,668 H113L probably damaging Het
Arhgap33 T A 7: 30,524,051 H851L possibly damaging Het
Atp12a C T 14: 56,387,179 S972L probably damaging Het
Atrip T C 9: 109,067,046 D301G probably benign Het
Bckdk A G 7: 127,906,373 T223A probably benign Het
C3 C A 17: 57,226,337 probably benign Het
C8g A G 2: 25,499,110 S154P probably damaging Het
Casz1 A G 4: 148,934,619 D459G probably damaging Het
Cmya5 T A 13: 93,090,150 D2810V probably damaging Het
CN725425 G A 15: 91,245,821 V296I probably benign Het
Col17a1 A G 19: 47,651,219 M1077T probably benign Het
Ddhd1 A T 14: 45,616,600 H426Q probably damaging Het
Dpp6 C T 5: 27,723,577 T799M probably damaging Het
Efs C T 14: 54,921,042 G53D probably damaging Het
Fer1l4 A G 2: 156,048,451 V221A probably benign Het
Gabre G A X: 72,274,653 Q17* probably null Het
Gpld1 T C 13: 24,984,209 probably null Het
Gpr107 T A 2: 31,168,846 V116D probably benign Het
Huwe1 T C X: 151,903,968 S2283P possibly damaging Het
Ksr1 A G 11: 79,020,791 S722P probably benign Het
Lmbrd2 A G 15: 9,182,574 E532G probably damaging Het
Lrfn1 T C 7: 28,458,686 probably benign Het
Lrrc4c A G 2: 97,630,253 D408G probably damaging Het
Mbp A G 18: 82,554,545 E122G probably damaging Het
Myo9a T A 9: 59,870,553 D1197E probably benign Het
Ncor1 A T 11: 62,329,659 probably benign Het
Olfr1390 A G 11: 49,341,306 Y258C probably benign Het
Pdcd1lg2 A G 19: 29,437,332 E53G probably benign Het
Phex G T X: 157,268,493 A469E probably damaging Het
Pigo A G 4: 43,019,352 S957P probably benign Het
Ppargc1b C A 18: 61,310,874 R422I probably damaging Het
Ppargc1b T A 18: 61,310,875 R406* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Thnsl1 G T 2: 21,211,854 A140S possibly damaging Het
Tm9sf3 A G 19: 41,246,637 probably benign Het
Tma7 T A 9: 109,082,085 probably benign Het
Tmtc2 T G 10: 105,348,493 S514R probably benign Het
Unc79 G A 12: 102,998,747 probably null Het
Wdr89 A T 12: 75,633,123 I119N probably damaging Het
Wiz C A 17: 32,356,902 R843S probably damaging Het
Zfp275 T A X: 73,353,283 S12T probably damaging Het
Other mutations in Cdca7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0600:Cdca7 UTSW 2 72483467 missense possibly damaging 0.49
R2265:Cdca7 UTSW 2 72482490 missense probably benign 0.01
R3413:Cdca7 UTSW 2 72485287 missense probably damaging 1.00
R3735:Cdca7 UTSW 2 72483865 splice site probably null
R4523:Cdca7 UTSW 2 72479698 missense probably damaging 1.00
R4627:Cdca7 UTSW 2 72481861 small deletion probably benign
R4905:Cdca7 UTSW 2 72481861 small deletion probably benign
R5044:Cdca7 UTSW 2 72483415 missense probably benign
R5156:Cdca7 UTSW 2 72479026 missense probably damaging 1.00
R5330:Cdca7 UTSW 2 72484698 missense probably damaging 1.00
R5372:Cdca7 UTSW 2 72482449 missense probably damaging 1.00
R5875:Cdca7 UTSW 2 72483557 missense probably benign 0.11
R7022:Cdca7 UTSW 2 72479529 splice site probably null
R7111:Cdca7 UTSW 2 72485231 missense probably damaging 1.00
Posted On2015-04-16