Incidental Mutation 'IGL00801:Ccn1'
ID |
10024 |
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 # |
IGL00801
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
145352731-145355736 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145354365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 182
(D182V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029846]
|
AlphaFold |
P18406 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029846
AA Change: D182V
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029846 Gene: ENSMUSG00000028195 AA Change: D182V
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
Other mutations in Ccn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03170:Ccn1
|
APN |
3 |
145,355,514 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2012-12-06 |