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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |