Incidental Mutation 'IGL01727:Ccn3'
| ID |
105332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccn3
|
| Ensembl Gene |
ENSMUSG00000037362 |
| Gene Name |
cellular communication network factor 3 |
| Synonyms |
C130088N23Rik, CCN3, Nov |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
54609306-54617158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54609634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 45
(A45T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050027]
|
| AlphaFold |
Q64299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050027
AA Change: A45T
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: A45T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IB
|
27 |
98 |
8.2e-34 |
SMART |
|
VWC
|
104 |
167 |
6.08e-18 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
TSP1
|
204 |
247 |
5.51e-7 |
SMART |
|
CT
|
266 |
335 |
1.18e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
| Other mutations in Ccn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01315:Ccn3
|
APN |
15 |
54,612,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01480:Ccn3
|
APN |
15 |
54,615,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02027:Ccn3
|
APN |
15 |
54,611,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02690:Ccn3
|
APN |
15 |
54,611,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03089:Ccn3
|
APN |
15 |
54,612,680 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03229:Ccn3
|
APN |
15 |
54,612,704 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0556:Ccn3
|
UTSW |
15 |
54,612,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Ccn3
|
UTSW |
15 |
54,611,178 (GRCm39) |
nonsense |
probably null |
|
|
R1321:Ccn3
|
UTSW |
15 |
54,612,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Ccn3
|
UTSW |
15 |
54,612,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1994:Ccn3
|
UTSW |
15 |
54,612,750 (GRCm39) |
missense |
probably benign |
|
|
R2151:Ccn3
|
UTSW |
15 |
54,615,854 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4785:Ccn3
|
UTSW |
15 |
54,615,603 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5165:Ccn3
|
UTSW |
15 |
54,612,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5577:Ccn3
|
UTSW |
15 |
54,615,897 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6131:Ccn3
|
UTSW |
15 |
54,612,756 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6307:Ccn3
|
UTSW |
15 |
54,611,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6472:Ccn3
|
UTSW |
15 |
54,612,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6557:Ccn3
|
UTSW |
15 |
54,611,323 (GRCm39) |
nonsense |
probably null |
|
|
R7000:Ccn3
|
UTSW |
15 |
54,615,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Ccn3
|
UTSW |
15 |
54,611,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7957:Ccn3
|
UTSW |
15 |
54,609,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9030:Ccn3
|
UTSW |
15 |
54,615,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Ccn3
|
UTSW |
15 |
54,609,717 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-01-21 |
Incidental Mutation