Incidental Mutation 'IGL03229:Nov'
ID413829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nov
Ensembl Gene ENSMUSG00000037362
Gene Namenephroblastoma overexpressed gene
SynonymsCCN3, C130088N23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL03229
Quality Score
Status
Chromosome15
Chromosomal Location54745702-54754039 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54749308 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000054389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050027]
Predicted Effect probably benign
Transcript: ENSMUST00000050027
AA Change: T238A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: T238A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IB 27 98 8.2e-34 SMART
VWC 104 167 6.08e-18 SMART
low complexity region 172 181 N/A INTRINSIC
TSP1 204 247 5.51e-7 SMART
CT 266 335 1.18e-21 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Adcyap1r1 T C 6: 55,478,123 S124P probably damaging Het
Coq4 A G 2: 29,788,485 D41G probably benign Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm7030 C T 17: 36,127,722 G259E probably damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nckipsd T C 9: 108,811,614 V116A probably benign Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Olfr294 T C 7: 86,616,078 D189G probably benign Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zfp750 G A 11: 121,512,952 H366Y possibly damaging Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Nov
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Nov APN 15 54749260 missense probably damaging 1.00
IGL01480:Nov APN 15 54752291 missense probably damaging 1.00
IGL01727:Nov APN 15 54746238 missense probably benign 0.17
IGL02027:Nov APN 15 54747934 missense probably damaging 0.98
IGL02690:Nov APN 15 54747802 missense probably damaging 1.00
IGL03089:Nov APN 15 54749284 missense possibly damaging 0.72
R0556:Nov UTSW 15 54749167 missense probably damaging 1.00
R1162:Nov UTSW 15 54747782 nonsense probably null
R1321:Nov UTSW 15 54749246 missense probably damaging 1.00
R1572:Nov UTSW 15 54749252 missense possibly damaging 0.89
R1994:Nov UTSW 15 54749354 missense probably benign
R2151:Nov UTSW 15 54752458 missense probably benign 0.10
R4785:Nov UTSW 15 54752207 critical splice acceptor site probably null
R5165:Nov UTSW 15 54749189 missense probably damaging 1.00
R5577:Nov UTSW 15 54752501 missense possibly damaging 0.54
R6131:Nov UTSW 15 54749360 missense probably benign 0.28
R6307:Nov UTSW 15 54748025 critical splice donor site probably null
R6472:Nov UTSW 15 54749272 missense possibly damaging 0.95
R6557:Nov UTSW 15 54747927 nonsense probably null
R7000:Nov UTSW 15 54752347 missense probably damaging 1.00
R7029:Nov UTSW 15 54747775 missense possibly damaging 0.89
R7957:Nov UTSW 15 54746338 missense possibly damaging 0.93
X0063:Nov UTSW 15 54746321 missense probably benign 0.06
Posted On2016-08-02