Incidental Mutation 'R6689:Ccn1'
| ID |
527884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn1
|
| Ensembl Gene |
ENSMUSG00000028195 |
| Gene Name |
cellular communication network factor 1 |
| Synonyms |
Cyr61, CCN1 |
| MMRRC Submission |
044807-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R6689 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145352731-145355736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145353543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 340
(M340L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029846]
|
| AlphaFold |
P18406 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029846
AA Change: M340L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029846
Gene: ENSMUSG00000028195
AA Change: M340L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
A |
9: 49,331,776 (GRCm39) |
I173F |
probably damaging |
Het |
| Aurka |
A |
G |
2: 172,212,313 (GRCm39) |
|
probably null |
Het |
| B4galnt4 |
C |
T |
7: 140,647,897 (GRCm39) |
T471I |
probably benign |
Het |
| Commd6 |
C |
A |
14: 101,877,895 (GRCm39) |
|
probably benign |
Het |
| Elobl |
T |
C |
11: 88,855,919 (GRCm39) |
N48S |
possibly damaging |
Het |
| Grem1 |
T |
C |
2: 113,580,276 (GRCm39) |
E75G |
probably benign |
Het |
| Hp |
C |
T |
8: 110,302,352 (GRCm39) |
V199I |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Lgr5 |
T |
A |
10: 115,302,513 (GRCm39) |
I293F |
probably damaging |
Het |
| Lmln |
A |
G |
16: 32,925,152 (GRCm39) |
R462G |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Mroh4 |
A |
G |
15: 74,483,852 (GRCm39) |
V495A |
probably damaging |
Het |
| Or10c1 |
C |
G |
17: 37,522,048 (GRCm39) |
G232A |
probably damaging |
Het |
| Or8h10 |
A |
G |
2: 86,808,498 (GRCm39) |
I214T |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,566,089 (GRCm39) |
|
probably null |
Het |
| Stim2 |
G |
A |
5: 54,273,318 (GRCm39) |
R524H |
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 |
|
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 |
|
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'- GCAAGGCACCATTCATCCTC -3'
(R):5'- TTTCTTCCAGAAGGGCAAGAAATG -3'
Sequencing Primer
(F):5'- ACGTCTCCATGATGCTTGCG -3'
(R):5'- GAAATGCAGCAAGACCAAGAAATC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation