Incidental Mutation 'R3791:Ccn4'
ID |
272555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccn4
|
Ensembl Gene |
ENSMUSG00000005124 |
Gene Name |
cellular communication network factor 4 |
Synonyms |
Wisp1, Elm1, CCN4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R3791 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
66763337-66795050 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66791137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 313
(Y313C)
|
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: Y313C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005255 Gene: ENSMUSG00000005124 AA Change: Y313C
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
possibly damaging |
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 |
R0847:Ccn4
|
UTSW |
15 |
66,791,124 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GCATGGTGGCTATACATCACC -3'
(R):5'- TGAAGTCCTGGACCACAAAGG -3'
Sequencing Primer
(F):5'- TGGTGGCTATACATCACCAGTAC -3'
(R):5'- GCAGCATGGAACTTTACCCTGAG -3'
|
Posted On |
2015-03-25 |