Incidental Mutation 'R0029:Ccn4'
| ID |
44591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn4
|
| Ensembl Gene |
ENSMUSG00000005124 |
| Gene Name |
cellular communication network factor 4 |
| Synonyms |
Wisp1, Elm1, CCN4 |
| MMRRC Submission |
038323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R0029 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
66763337-66795050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66784713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 129
(R129C)
|
| 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: R129C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124
AA Change: R129C
| 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: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
94% (48/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
| Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
| Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
| Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,469,397 (GRCm39) |
D753V |
probably damaging |
Het |
| Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
| Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
| Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
| Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
| Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
| Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
| Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
| Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
| Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
| Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
| Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
| Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
| Slc26a2 |
G |
A |
18: 61,335,382 (GRCm39) |
P24S |
possibly damaging |
Het |
| Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
| Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
| Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
| Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
| Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
| Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
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 |
|
|
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 |
|
|
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'- AGATGATATGTGGACCAGGCCCTC -3'
(R):5'- ACCAAAGGCTCTGGTGTCCAAC -3'
Sequencing Primer
(F):5'- GTGGACCAGGCCCTCTTTTC -3'
(R):5'- TGTCCAACAGTGCAGTCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation