Incidental Mutation 'R5317:Ccn4'
| ID |
405887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn4
|
| Ensembl Gene |
ENSMUSG00000005124 |
| Gene Name |
cellular communication network factor 4 |
| Synonyms |
Wisp1, Elm1, CCN4 |
| MMRRC Submission |
042900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5317 (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 66789131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 206
(S206A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005255]
[ENSMUST00000118823]
[ENSMUST00000147079]
|
| AlphaFold |
O54775 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005255
AA Change: S206A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124
AA Change: S206A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih1 |
A |
C |
9: 59,300,619 (GRCm39) |
H542Q |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,029 (GRCm39) |
S155P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,141 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
| Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
| Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
| Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
| Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,480,020 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
| Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
| Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
| Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 133,032,543 (GRCm39) |
Y72H |
probably benign |
Het |
| Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,114,247 (GRCm39) |
S190P |
probably damaging |
Het |
| Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
| Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (GRCm39) |
|
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 |
|
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 |
|
R3791:Ccn4
|
UTSW |
15 |
66,791,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Ccn4
|
UTSW |
15 |
66,778,489 (GRCm39) |
nonsense |
probably null |
|
|
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'- CCTAGGTGTGGCTACTAAGTAGAAG -3'
(R):5'- ATGTCCACATCACATGGCCG -3'
Sequencing Primer
(F):5'- AGGAAGAGCCCAATTCTTTCTGTC -3'
(R):5'- CGCAGGTTGCAGAGGCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation