Incidental Mutation 'IGL03170:Ccn1'
ID 411815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccn1
Ensembl Gene ENSMUSG00000028195
Gene Name cellular communication network factor 1
Synonyms Cyr61, CCN1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.344) question?
Stock # IGL03170
Quality Score
Status
Chromosome 3
Chromosomal Location 145352731-145355736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 145355514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 12 (A12S)
Ref Sequence ENSEMBL: ENSMUSP00000029846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029846]
AlphaFold P18406
Predicted Effect probably benign
Transcript: ENSMUST00000029846
AA Change: A12S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: A12S

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
IB 24 93 1.16e-24 SMART
VWC 100 163 9.94e-23 SMART
low complexity region 164 184 N/A INTRINSIC
TSP1 229 271 1.34e-5 SMART
CT 289 358 3.74e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197148
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]
PHENOTYPE: Targeted null mice die pre- or perinatally, and none survive beyond 24 hrs of birth. About 30% of embryos die by E10.5 from defects in chorioallantoic fusion, whereas 70% die from placental vascular defects, including impaired allantoic vessel bifurcation, and loss of large-vessel integrity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,774,861 (GRCm39) D1023G probably damaging Het
Cyp2c54 A G 19: 40,060,809 (GRCm39) probably null Het
Cyp4f37 C T 17: 32,844,093 (GRCm39) probably benign Het
Entpd2 T C 2: 25,289,493 (GRCm39) F325S probably damaging Het
Flnb T C 14: 7,818,261 (GRCm38) I37T possibly damaging Het
Gtpbp10 A G 5: 5,605,355 (GRCm39) V116A probably benign Het
H2-T9 C T 17: 36,439,605 (GRCm39) G125E probably damaging Het
Lrp1b T A 2: 40,587,456 (GRCm39) N164I unknown Het
Nle1 T A 11: 82,795,096 (GRCm39) T312S probably benign Het
Or10ab5 T C 7: 108,245,307 (GRCm39) I159V probably benign Het
Pim1 T A 17: 29,710,152 (GRCm39) L12Q possibly damaging Het
Plb1 G T 5: 32,442,246 (GRCm39) C246F probably damaging Het
Ppp4r4 T C 12: 103,557,033 (GRCm39) probably benign Het
Prl6a1 T A 13: 27,499,406 (GRCm39) V63D possibly damaging Het
Ptprz1 G A 6: 22,959,766 (GRCm39) A88T probably benign Het
Ranbp3l A T 15: 9,029,611 (GRCm39) E31V probably damaging Het
Relch C T 1: 105,663,680 (GRCm39) T943I probably damaging Het
Rgs9 G A 11: 109,150,681 (GRCm39) T209I probably benign Het
Smg8 A G 11: 86,977,434 (GRCm39) V49A probably damaging Het
Smim6 A T 11: 115,804,314 (GRCm39) T34S possibly damaging Het
Snw1 T G 12: 87,519,022 (GRCm39) T4P probably benign Het
Sod2 C A 17: 13,227,257 (GRCm39) H70Q probably benign Het
Tro A G X: 149,438,556 (GRCm39) S34P probably benign Het
Tshr T A 12: 91,504,643 (GRCm39) M527K probably damaging Het
Uggt1 A C 1: 36,202,342 (GRCm39) V1085G probably damaging Het
Vmn1r21 A G 6: 57,820,847 (GRCm39) V199A probably damaging Het
Xkr9 T C 1: 13,771,036 (GRCm39) I184T possibly damaging Het
Zfp369 T C 13: 65,442,224 (GRCm39) S273P probably damaging Het
Zpld2 C T 4: 133,920,345 (GRCm39) V607I possibly damaging Het
Other mutations in Ccn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Ccn1 APN 3 145,354,365 (GRCm39) missense probably damaging 0.96
IGL02500:Ccn1 APN 3 145,354,455 (GRCm39) missense probably damaging 1.00
IGL02963:Ccn1 APN 3 145,353,630 (GRCm39) missense probably damaging 1.00
R0018:Ccn1 UTSW 3 145,355,186 (GRCm39) missense probably damaging 0.99
R0846:Ccn1 UTSW 3 145,353,525 (GRCm39) missense possibly damaging 0.94
R0964:Ccn1 UTSW 3 145,353,503 (GRCm39) missense probably damaging 1.00
R1234:Ccn1 UTSW 3 145,355,594 (GRCm39) start gained probably benign
R1968:Ccn1 UTSW 3 145,353,965 (GRCm39) missense probably damaging 0.99
R1989:Ccn1 UTSW 3 145,353,498 (GRCm39) missense probably benign 0.31
R2071:Ccn1 UTSW 3 145,354,428 (GRCm39) nonsense probably null
R5622:Ccn1 UTSW 3 145,355,075 (GRCm39) missense probably damaging 1.00
R5639:Ccn1 UTSW 3 145,354,452 (GRCm39) missense probably damaging 1.00
R5734:Ccn1 UTSW 3 145,354,023 (GRCm39) missense probably damaging 1.00
R5792:Ccn1 UTSW 3 145,354,413 (GRCm39) missense probably benign
R6129:Ccn1 UTSW 3 145,354,986 (GRCm39) missense possibly damaging 0.85
R6689:Ccn1 UTSW 3 145,353,543 (GRCm39) missense probably benign
R7131:Ccn1 UTSW 3 145,354,536 (GRCm39) missense probably damaging 1.00
R7289:Ccn1 UTSW 3 145,354,428 (GRCm39) nonsense probably null
R7699:Ccn1 UTSW 3 145,354,447 (GRCm39) missense probably damaging 1.00
R7700:Ccn1 UTSW 3 145,354,447 (GRCm39) missense probably damaging 1.00
R8722:Ccn1 UTSW 3 145,354,584 (GRCm39) missense probably damaging 1.00
R8859:Ccn1 UTSW 3 145,354,380 (GRCm39) missense probably benign
R9651:Ccn1 UTSW 3 145,354,583 (GRCm39) missense probably damaging 1.00
Z1177:Ccn1 UTSW 3 145,354,410 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02