Incidental Mutation 'IGL02429:Ccn6'
ID 293059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccn6
Ensembl Gene ENSMUSG00000062074
Gene Name cellular communication network factor 6
Synonyms LOC327743, CCN6, Wisp3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02429
Quality Score
Status
Chromosome 10
Chromosomal Location 39026966-39039790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39030989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 178 (N178S)
Ref Sequence ENSEMBL: ENSMUSP00000076003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019991] [ENSMUST00000076713] [ENSMUST00000213459]
AlphaFold D3Z5L9
Predicted Effect probably benign
Transcript: ENSMUST00000019991
SMART Domains Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845

DomainStartEndE-ValueType
Tubulin 55 277 1.08e-38 SMART
Tubulin_C 279 414 9.81e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076713
AA Change: N178S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: N178S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IB 46 116 1.01e-15 SMART
Blast:VWC 122 179 1e-27 BLAST
TSP1 211 253 6.58e-5 SMART
CT 273 342 1.23e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214493
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 encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with no obvious abnormalities in size, weight, skeletal development, ossification, or the occurrence of joint disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,687,453 (GRCm39) D245V probably damaging Het
Adamts16 G A 13: 70,935,289 (GRCm39) probably benign Het
Arhgap36 A G X: 48,583,583 (GRCm39) D77G possibly damaging Het
Asap1 A T 15: 64,039,589 (GRCm39) M187K probably damaging Het
Aspm T C 1: 139,407,548 (GRCm39) V2145A probably benign Het
Cd46 T C 1: 194,767,732 (GRCm39) T110A probably benign Het
Chl1 T A 6: 103,641,770 (GRCm39) probably benign Het
Clca3b A G 3: 144,533,896 (GRCm39) L493S probably damaging Het
Col11a2 C T 17: 34,261,266 (GRCm39) T72M probably damaging Het
Cyfip1 T A 7: 55,521,730 (GRCm39) probably benign Het
Frmd4b T C 6: 97,302,390 (GRCm39) probably benign Het
Glyr1 A G 16: 4,837,240 (GRCm39) M397T probably benign Het
Golm2 A G 2: 121,742,468 (GRCm39) T306A probably benign Het
Gtf2a1l G T 17: 88,976,141 (GRCm39) M1I probably null Het
Hdac4 A G 1: 91,940,417 (GRCm39) L154P probably benign Het
Ints8 A T 4: 11,231,720 (GRCm39) C422S probably damaging Het
Kng2 T A 16: 22,830,829 (GRCm39) K160I probably damaging Het
Lrrc23 C A 6: 124,755,130 (GRCm39) A136S probably damaging Het
Ltf T C 9: 110,855,193 (GRCm39) I402T possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mfsd4a T C 1: 131,956,237 (GRCm39) H509R probably benign Het
Mthfd1l A G 10: 4,039,334 (GRCm39) K782E probably damaging Het
Mvb12b G A 2: 33,717,800 (GRCm39) R114W probably damaging Het
Myh4 A T 11: 67,149,808 (GRCm39) K1818* probably null Het
Myo1h C T 5: 114,497,799 (GRCm39) probably benign Het
Ncapd3 T A 9: 27,000,598 (GRCm39) S1402T probably benign Het
Nutm2 A G 13: 50,623,516 (GRCm39) N71S probably benign Het
Oas1c C A 5: 120,940,133 (GRCm39) M344I probably benign Het
Or10g7 T A 9: 39,905,138 (GRCm39) F11I probably benign Het
Phldb1 A G 9: 44,612,247 (GRCm39) L1019P probably damaging Het
Plxnc1 T C 10: 94,718,453 (GRCm39) E494G probably benign Het
Pole T C 5: 110,447,666 (GRCm39) I734T probably benign Het
Ppp1r3b T C 8: 35,851,769 (GRCm39) S203P probably benign Het
Pth2r G T 1: 65,385,998 (GRCm39) M240I probably benign Het
Ptprr T A 10: 116,109,672 (GRCm39) F394I probably damaging Het
Rabgef1 T C 5: 130,239,329 (GRCm39) S265P possibly damaging Het
Rbpjl A G 2: 164,255,815 (GRCm39) D353G possibly damaging Het
Rfc3 A G 5: 151,574,596 (GRCm39) Y8H probably benign Het
Rph3a A T 5: 121,118,187 (GRCm39) probably null Het
Runx1t1 A T 4: 13,865,294 (GRCm39) probably benign Het
Slc37a1 T A 17: 31,519,483 (GRCm39) probably null Het
Slc38a10 T C 11: 120,025,714 (GRCm39) probably benign Het
Slc38a6 T C 12: 73,397,342 (GRCm39) V328A probably benign Het
Slf2 T C 19: 44,930,167 (GRCm39) S415P probably benign Het
Spata17 C A 1: 186,872,631 (GRCm39) R60L possibly damaging Het
Svil T A 18: 5,118,369 (GRCm39) D2237E probably benign Het
Swap70 T A 7: 109,863,179 (GRCm39) N169K probably benign Het
Tnfrsf11a A G 1: 105,755,443 (GRCm39) D505G probably benign Het
Traf1 A G 2: 34,839,115 (GRCm39) V70A probably benign Het
Traf3 T A 12: 111,209,899 (GRCm39) V165E probably benign Het
Trpc5 T C X: 143,194,795 (GRCm39) E570G probably damaging Het
Ubash3a A G 17: 31,460,279 (GRCm39) N601S probably benign Het
Vmn2r30 C T 7: 7,337,243 (GRCm39) C131Y possibly damaging Het
Vmn2r43 T C 7: 8,258,551 (GRCm39) I221V probably benign Het
Vmn2r97 T A 17: 19,150,596 (GRCm39) V481E possibly damaging Het
Other mutations in Ccn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Ccn6 APN 10 39,034,306 (GRCm39) missense probably damaging 1.00
IGL02675:Ccn6 APN 10 39,027,236 (GRCm39) missense possibly damaging 0.77
IGL03160:Ccn6 APN 10 39,029,233 (GRCm39) missense probably damaging 1.00
IGL03214:Ccn6 APN 10 39,029,163 (GRCm39) missense probably benign 0.04
R0666:Ccn6 UTSW 10 39,027,285 (GRCm39) missense probably benign 0.45
R1350:Ccn6 UTSW 10 39,034,302 (GRCm39) missense probably damaging 1.00
R1478:Ccn6 UTSW 10 39,029,239 (GRCm39) missense probably damaging 1.00
R1479:Ccn6 UTSW 10 39,029,239 (GRCm39) missense probably damaging 1.00
R1624:Ccn6 UTSW 10 39,029,239 (GRCm39) missense probably damaging 1.00
R3833:Ccn6 UTSW 10 39,030,945 (GRCm39) missense probably benign 0.00
R3975:Ccn6 UTSW 10 39,031,094 (GRCm39) missense probably damaging 1.00
R5051:Ccn6 UTSW 10 39,031,152 (GRCm39) missense probably benign 0.00
R6000:Ccn6 UTSW 10 39,034,296 (GRCm39) missense probably damaging 1.00
R6492:Ccn6 UTSW 10 39,030,983 (GRCm39) missense probably benign 0.01
R6775:Ccn6 UTSW 10 39,027,351 (GRCm39) missense probably damaging 0.99
R7053:Ccn6 UTSW 10 39,034,297 (GRCm39) missense probably damaging 1.00
R7138:Ccn6 UTSW 10 39,034,473 (GRCm39) missense possibly damaging 0.80
R7253:Ccn6 UTSW 10 39,031,031 (GRCm39) missense probably benign 0.04
R7367:Ccn6 UTSW 10 39,034,261 (GRCm39) missense probably damaging 1.00
R7475:Ccn6 UTSW 10 39,034,296 (GRCm39) missense probably damaging 1.00
R8417:Ccn6 UTSW 10 39,027,207 (GRCm39) nonsense probably null
R8547:Ccn6 UTSW 10 39,027,194 (GRCm39) missense probably damaging 1.00
R9781:Ccn6 UTSW 10 39,027,167 (GRCm39) makesense probably null
Posted On 2015-04-16