Incidental Mutation 'R0846:Ccn1'
| ID |
77361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn1
|
| Ensembl Gene |
ENSMUSG00000028195 |
| Gene Name |
cellular communication network factor 1 |
| Synonyms |
Cyr61, CCN1 |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145352731-145355736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145353525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 346
(M346L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029846]
|
| AlphaFold |
P18406 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029846
AA Change: M346L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: M346L
| 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 |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTACTCAAGAATGAGCAAGGCAC -3'
(R):5'- TCTTCCAGAAGGGCAAGAAATGCAG -3'
Sequencing Primer
(F):5'- TGAGCAAGGCACCATTCATC -3'
(R):5'- GCAAGAAATGCAGCAAGACC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation