Incidental Mutation 'IGL03057:Ccn4'
ID 409311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccn4
Ensembl Gene ENSMUSG00000005124
Gene Name cellular communication network factor 4
Synonyms Wisp1, Elm1, CCN4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL03057
Quality Score
Status
Chromosome 15
Chromosomal Location 66763337-66795050 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 66763489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005255] [ENSMUST00000118823] [ENSMUST00000147079]
AlphaFold O54775
Predicted Effect probably benign
Transcript: ENSMUST00000005255
SMART Domains Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IB 49 117 6.39e-13 SMART
VWC 123 185 5.63e-13 SMART
TSP1 217 260 4.34e-5 SMART
CT 278 347 1.42e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118823
SMART Domains Protein: ENSMUSP00000113144
Gene: ENSMUSG00000005124

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IB 49 117 3.19e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147079
SMART Domains Protein: ENSMUSP00000117402
Gene: ENSMUSG00000005124

DomainStartEndE-ValueType
signal peptide 1 22 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 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 may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,754 (GRCm39) A1295V possibly damaging Het
Adgre4 T C 17: 56,106,602 (GRCm39) probably benign Het
Atp8b2 A T 3: 89,851,493 (GRCm39) Y901N probably damaging Het
Bud31 A G 5: 145,083,378 (GRCm39) T74A probably benign Het
C4b C A 17: 34,956,738 (GRCm39) probably benign Het
Ccdc92 G A 5: 124,912,753 (GRCm39) Q259* probably null Het
Chfr C A 5: 110,291,475 (GRCm39) Q98K probably benign Het
Ciita T A 16: 10,338,823 (GRCm39) probably benign Het
Cnbd2 A T 2: 156,209,592 (GRCm39) I512F possibly damaging Het
Cpa2 A G 6: 30,557,726 (GRCm39) Y346C probably damaging Het
Cpxm1 A G 2: 130,235,109 (GRCm39) L570P probably damaging Het
Cylc1 G A X: 110,166,370 (GRCm39) G217D unknown Het
Dennd2a T C 6: 39,485,182 (GRCm39) I366V probably damaging Het
Dis3 A T 14: 99,327,426 (GRCm39) M359K possibly damaging Het
Dock10 T C 1: 80,545,088 (GRCm39) N848S probably damaging Het
Dyrk3 C T 1: 131,056,815 (GRCm39) V453I probably benign Het
Ercc5 A G 1: 44,206,161 (GRCm39) E358G probably damaging Het
Fam167b C A 4: 129,471,960 (GRCm39) C70F possibly damaging Het
Flt1 G T 5: 147,618,734 (GRCm39) Y200* probably null Het
Garin4 A T 1: 190,895,141 (GRCm39) S501T probably benign Het
Ggh T C 4: 20,065,770 (GRCm39) V288A probably benign Het
Glb1l2 T C 9: 26,717,586 (GRCm39) probably benign Het
Gm28042 A G 2: 119,862,637 (GRCm39) Y302C probably damaging Het
Gsta2 A G 9: 78,241,192 (GRCm39) probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Irs4 A G X: 140,505,524 (GRCm39) S891P unknown Het
Kcmf1 G T 6: 72,820,010 (GRCm39) R330S probably benign Het
Kif26a G T 12: 112,142,208 (GRCm39) E821* probably null Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Met A T 6: 17,558,765 (GRCm39) D1131V probably damaging Het
Neo1 T C 9: 58,785,342 (GRCm39) E1428G probably damaging Het
Odf2 A G 2: 29,813,657 (GRCm39) probably benign Het
Ogfod1 T A 8: 94,782,766 (GRCm39) L294H possibly damaging Het
Or8d1b G T 9: 38,887,514 (GRCm39) V181F probably benign Het
Pcdhb20 A T 18: 37,637,851 (GRCm39) I126L possibly damaging Het
Pcdhb9 A T 18: 37,534,330 (GRCm39) Q108L probably benign Het
Prdm10 G T 9: 31,260,481 (GRCm39) R645L probably damaging Het
Psmb11 T A 14: 54,863,236 (GRCm39) C151* probably null Het
Reep1 T A 6: 71,784,765 (GRCm39) probably benign Het
Reg3a G A 6: 78,358,939 (GRCm39) A46T possibly damaging Het
Rnf213 T A 11: 119,331,913 (GRCm39) I2374N probably damaging Het
Slc17a7 T C 7: 44,820,363 (GRCm39) Y273H probably damaging Het
Smg6 T A 11: 74,826,260 (GRCm39) Y238* probably null Het
Sorcs1 T A 19: 50,248,194 (GRCm39) K411* probably null Het
Spta1 G T 1: 174,008,624 (GRCm39) A243S probably benign Het
Tas2r135 A T 6: 42,378,061 (GRCm39) probably benign Het
Tbx18 T C 9: 87,612,882 (GRCm39) R6G probably damaging Het
Timp3 A G 10: 86,136,815 (GRCm39) D33G possibly damaging Het
Ttf1 A G 2: 28,961,357 (GRCm39) K582E probably damaging Het
Ubr5 C A 15: 38,041,150 (GRCm39) probably benign Het
Ugt2b1 A G 5: 87,074,200 (GRCm39) V53A possibly damaging Het
Ush2a G T 1: 188,530,035 (GRCm39) G3275W probably damaging Het
Usp19 G A 9: 108,376,329 (GRCm39) V1023M probably benign Het
Usp26 T C X: 50,846,135 (GRCm39) I47V possibly damaging Het
Vapa A G 17: 65,901,902 (GRCm39) V76A probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vps13a T C 19: 16,646,058 (GRCm39) N1993S probably damaging Het
Wdr59 G A 8: 112,202,750 (GRCm39) R598C probably damaging Het
Other mutations in Ccn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03051:Ccn4 APN 15 66,778,399 (GRCm39) nonsense probably null
R0029:Ccn4 UTSW 15 66,784,713 (GRCm39) missense probably damaging 1.00
R0125:Ccn4 UTSW 15 66,789,194 (GRCm39) missense possibly damaging 0.82
R0164:Ccn4 UTSW 15 66,791,059 (GRCm39) missense probably damaging 1.00
R0164:Ccn4 UTSW 15 66,791,059 (GRCm39) missense probably damaging 1.00
R0470:Ccn4 UTSW 15 66,789,227 (GRCm39) missense probably benign 0.13
R0847:Ccn4 UTSW 15 66,791,124 (GRCm39) missense probably damaging 1.00
R1463:Ccn4 UTSW 15 66,791,120 (GRCm39) missense possibly damaging 0.52
R1623:Ccn4 UTSW 15 66,763,448 (GRCm39) missense possibly damaging 0.46
R1785:Ccn4 UTSW 15 66,778,338 (GRCm39) missense probably damaging 1.00
R1786:Ccn4 UTSW 15 66,778,338 (GRCm39) missense probably damaging 1.00
R2027:Ccn4 UTSW 15 66,789,258 (GRCm39) missense possibly damaging 0.50
R2104:Ccn4 UTSW 15 66,791,176 (GRCm39) missense probably benign 0.11
R2440:Ccn4 UTSW 15 66,784,706 (GRCm39) missense possibly damaging 0.71
R3791:Ccn4 UTSW 15 66,791,137 (GRCm39) missense probably damaging 1.00
R4748:Ccn4 UTSW 15 66,778,489 (GRCm39) nonsense probably null
R5317:Ccn4 UTSW 15 66,789,131 (GRCm39) missense probably benign
R6960:Ccn4 UTSW 15 66,791,047 (GRCm39) missense probably benign 0.00
R7144:Ccn4 UTSW 15 66,784,879 (GRCm39) missense probably damaging 0.99
R8237:Ccn4 UTSW 15 66,791,083 (GRCm39) missense probably benign 0.23
R9140:Ccn4 UTSW 15 66,791,157 (GRCm39) missense probably damaging 0.96
R9364:Ccn4 UTSW 15 66,784,900 (GRCm39) missense probably benign 0.01
R9554:Ccn4 UTSW 15 66,784,900 (GRCm39) missense probably benign 0.01
R9598:Ccn4 UTSW 15 66,784,764 (GRCm39) missense possibly damaging 0.55
R9644:Ccn4 UTSW 15 66,784,785 (GRCm39) missense
Posted On 2016-08-02