Incidental Mutation 'R0847:Ccn4'
| ID |
77030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn4
|
| Ensembl Gene |
ENSMUSG00000005124 |
| Gene Name |
cellular communication network factor 4 |
| Synonyms |
Wisp1, Elm1, CCN4 |
| MMRRC Submission |
039026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
66763337-66795050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 66791124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 309
(C309G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005255]
[ENSMUST00000118823]
[ENSMUST00000147079]
|
| AlphaFold |
O54775 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005255
AA Change: C309G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124
AA Change: C309G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IB
|
49 |
117 |
6.39e-13 |
SMART |
|
VWC
|
123 |
185 |
5.63e-13 |
SMART |
|
TSP1
|
217 |
260 |
4.34e-5 |
SMART |
|
CT
|
278 |
347 |
1.42e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118823
|
| SMART Domains |
Protein: ENSMUSP00000113144
Gene: ENSMUSG00000005124
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IB
|
49 |
117 |
3.19e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147079
|
| SMART Domains |
Protein: ENSMUSP00000117402
Gene: ENSMUSG00000005124
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230535
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,895,764 (GRCm39) |
I899T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,983,797 (GRCm39) |
Q1694* |
probably null |
Het |
| Cblc |
A |
T |
7: 19,524,459 (GRCm39) |
Y260* |
probably null |
Het |
| Ceacam5 |
A |
G |
7: 17,491,762 (GRCm39) |
T711A |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,465,957 (GRCm39) |
S690P |
probably benign |
Het |
| Chia1 |
A |
T |
3: 106,039,253 (GRCm39) |
I448F |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,112 (GRCm39) |
F1712I |
probably damaging |
Het |
| Ecpas |
G |
A |
4: 58,841,439 (GRCm39) |
T645I |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,695 (GRCm39) |
V109A |
probably damaging |
Het |
| Fxyd7 |
A |
G |
7: 30,744,029 (GRCm39) |
C60R |
probably damaging |
Het |
| Gm17349 |
C |
A |
15: 99,600,289 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
A |
G |
4: 133,315,906 (GRCm39) |
N199D |
probably benign |
Het |
| Ints12 |
C |
T |
3: 132,814,603 (GRCm39) |
T270M |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,021,695 (GRCm39) |
E266K |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,963,634 (GRCm39) |
T50N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,293,159 (GRCm39) |
D1249E |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,769,854 (GRCm39) |
K146N |
probably damaging |
Het |
| Med20 |
G |
A |
17: 47,922,618 (GRCm39) |
|
probably null |
Het |
| Myo18b |
T |
C |
5: 113,022,354 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,739,718 (GRCm39) |
T84S |
possibly damaging |
Het |
| Olfm2 |
A |
G |
9: 20,579,953 (GRCm39) |
V266A |
probably damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
| Or5b123 |
C |
T |
19: 13,596,915 (GRCm39) |
H87Y |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,327 (GRCm39) |
I44F |
probably damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,766 (GRCm39) |
|
probably null |
Het |
| Rpap3 |
C |
T |
15: 97,601,082 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
A |
G |
3: 95,672,725 (GRCm39) |
S893P |
probably benign |
Het |
| Sacm1l |
G |
A |
9: 123,377,927 (GRCm39) |
G69D |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,701,261 (GRCm39) |
S351P |
probably benign |
Het |
| Sobp |
C |
G |
10: 42,898,415 (GRCm39) |
R390P |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,614,689 (GRCm39) |
M107K |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Stab2 |
T |
C |
10: 86,805,735 (GRCm39) |
I204V |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,804 (GRCm39) |
I511V |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,635,373 (GRCm39) |
S108P |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,555,333 (GRCm39) |
F197S |
probably damaging |
Het |
| Tmem167b |
C |
T |
3: 108,467,537 (GRCm39) |
G46R |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,638,585 (GRCm39) |
K301R |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,765,122 (GRCm39) |
V960M |
possibly damaging |
Het |
| Ube3a |
G |
A |
7: 58,926,334 (GRCm39) |
D371N |
possibly damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,225 (GRCm39) |
F78I |
probably benign |
Het |
|
| Other mutations in Ccn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03051:Ccn4
|
APN |
15 |
66,778,399 (GRCm39) |
nonsense |
probably null |
|
|
IGL03057:Ccn4
|
APN |
15 |
66,763,489 (GRCm39) |
splice site |
probably benign |
|
|
R0029:Ccn4
|
UTSW |
15 |
66,784,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Ccn4
|
UTSW |
15 |
66,789,194 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0164:Ccn4
|
UTSW |
15 |
66,791,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Ccn4
|
UTSW |
15 |
66,791,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Ccn4
|
UTSW |
15 |
66,789,227 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1463:Ccn4
|
UTSW |
15 |
66,791,120 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1623:Ccn4
|
UTSW |
15 |
66,763,448 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1785:Ccn4
|
UTSW |
15 |
66,778,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Ccn4
|
UTSW |
15 |
66,778,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Ccn4
|
UTSW |
15 |
66,789,258 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2104:Ccn4
|
UTSW |
15 |
66,791,176 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2440:Ccn4
|
UTSW |
15 |
66,784,706 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3791:Ccn4
|
UTSW |
15 |
66,791,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Ccn4
|
UTSW |
15 |
66,778,489 (GRCm39) |
nonsense |
probably null |
|
|
R5317:Ccn4
|
UTSW |
15 |
66,789,131 (GRCm39) |
missense |
probably benign |
|
|
R6960:Ccn4
|
UTSW |
15 |
66,791,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7144:Ccn4
|
UTSW |
15 |
66,784,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8237:Ccn4
|
UTSW |
15 |
66,791,083 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9140:Ccn4
|
UTSW |
15 |
66,791,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9364:Ccn4
|
UTSW |
15 |
66,784,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9554:Ccn4
|
UTSW |
15 |
66,784,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9598:Ccn4
|
UTSW |
15 |
66,784,764 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9644:Ccn4
|
UTSW |
15 |
66,784,785 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGATGACGCCTGCCATGCAC -3'
(R):5'- CATGGAACTTTACCCTGAGCCACAC -3'
Sequencing Primer
(F):5'- CTGCCATGCACAATGATGGG -3'
(R):5'- CTGAGCCACACACCCAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation