Incidental Mutation 'IGL02690:Nov'
ID303713
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: 0.129) question?
Stock #IGL02690
Quality Score
Status
Chromosome15
Chromosomal Location54745702-54754039 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54747802 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 111 (Y111C)
Ref Sequence ENSEMBL: ENSMUSP00000054389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050027]
Predicted Effect probably damaging
Transcript: ENSMUST00000050027
AA Change: Y111C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: Y111C

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gen1 A G 12: 11,241,575 S738P probably damaging Het
Gm12666 T A 4: 92,191,011 D191V probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Papd7 T A 13: 69,510,625 M364L probably benign Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Rtp1 T C 16: 23,431,382 Y166H probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ubxn7 A G 16: 32,381,605 E371G probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign 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
IGL03089:Nov APN 15 54749284 missense possibly damaging 0.72
IGL03229:Nov APN 15 54749308 missense probably benign 0.19
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
X0063:Nov UTSW 15 54746321 missense probably benign 0.06
Posted On2015-04-16