Incidental Mutation 'IGL02500:Ccn1'
| ID |
295994 |
| 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 # |
IGL02500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
145352731-145355736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145354455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 152
(K152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029846]
|
| AlphaFold |
P18406 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029846
AA Change: K152R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: K152R
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,856,338 (GRCm39) |
I409N |
possibly damaging |
Het |
| Aoc3 |
T |
A |
11: 101,228,215 (GRCm39) |
L674* |
probably null |
Het |
| Arhgef10 |
G |
A |
8: 15,011,238 (GRCm39) |
E265K |
probably damaging |
Het |
| Cd53 |
A |
G |
3: 106,676,142 (GRCm39) |
I75T |
probably damaging |
Het |
| Col26a1 |
A |
T |
5: 136,783,193 (GRCm39) |
L235* |
probably null |
Het |
| Crem |
G |
T |
18: 3,273,477 (GRCm39) |
Q60K |
probably damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,358,887 (GRCm39) |
D344G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,405,013 (GRCm39) |
T2510A |
probably benign |
Het |
| Dnajc4 |
T |
C |
19: 6,965,456 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,235 (GRCm39) |
H1262R |
probably benign |
Het |
| Exoc2 |
G |
T |
13: 31,095,179 (GRCm39) |
T239K |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,781 (GRCm39) |
S316C |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,586,704 (GRCm39) |
K429R |
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,747,252 (GRCm39) |
T647I |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,568,419 (GRCm39) |
|
probably benign |
Het |
| Kiz |
G |
A |
2: 146,705,733 (GRCm39) |
V98I |
probably benign |
Het |
| Klk1b24 |
A |
T |
7: 43,837,748 (GRCm39) |
|
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,857 (GRCm39) |
N241I |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,587,136 (GRCm39) |
V288A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,531,441 (GRCm39) |
H459R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,647,213 (GRCm39) |
Q115K |
probably benign |
Het |
| Msra |
A |
G |
14: 64,522,637 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,196,536 (GRCm39) |
R1752H |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,152,280 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,646 (GRCm39) |
Y60F |
probably damaging |
Het |
| Pax6 |
G |
T |
2: 105,523,115 (GRCm39) |
R317L |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,909 (GRCm39) |
E1129G |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,640,250 (GRCm39) |
H472Y |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prkce |
A |
G |
17: 86,476,342 (GRCm39) |
N108D |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,532,146 (GRCm39) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 67,227,043 (GRCm39) |
Y702C |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 179,921,122 (GRCm39) |
T421A |
possibly damaging |
Het |
| Retnlg |
A |
T |
16: 48,693,323 (GRCm39) |
L33F |
probably benign |
Het |
| Slc16a7 |
T |
A |
10: 125,066,802 (GRCm39) |
Y279F |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,696,142 (GRCm39) |
Y964C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sspo |
C |
A |
6: 48,455,313 (GRCm39) |
C3047* |
probably null |
Het |
| Tmprss11b |
C |
T |
5: 86,815,182 (GRCm39) |
|
probably null |
Het |
| Txnrd1 |
T |
G |
10: 82,715,051 (GRCm39) |
W98G |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,957,000 (GRCm39) |
I66N |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,554,893 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,650 (GRCm39) |
H172L |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,474 (GRCm39) |
C1218S |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation