Incidental Mutation 'R5051:Ccn6'
| ID |
394657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn6
|
| Ensembl Gene |
ENSMUSG00000062074 |
| Gene Name |
cellular communication network factor 6 |
| Synonyms |
LOC327743, CCN6, Wisp3 |
| MMRRC Submission |
042641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
39026966-39039790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39031152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 124
(F124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019991]
[ENSMUST00000076713]
[ENSMUST00000213459]
|
| AlphaFold |
D3Z5L9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019991
|
| SMART Domains |
Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
55 |
277 |
1.08e-38 |
SMART |
|
Tubulin_C
|
279 |
414 |
9.81e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076713
AA Change: F124L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076003
Gene: ENSMUSG00000062074
AA Change: F124L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IB
|
46 |
116 |
1.01e-15 |
SMART |
|
Blast:VWC
|
122 |
179 |
1e-27 |
BLAST |
|
TSP1
|
211 |
253 |
6.58e-5 |
SMART |
|
CT
|
273 |
342 |
1.23e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213459
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| Validation Efficiency |
98% (62/63) |
| 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 is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with no obvious abnormalities in size, weight, skeletal development, ossification, or the occurrence of joint disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
G |
A |
11: 25,718,990 (GRCm39) |
T51I |
unknown |
Het |
| Alms1 |
C |
T |
6: 85,604,916 (GRCm39) |
Q2189* |
probably null |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Ap3d1 |
T |
G |
10: 80,555,033 (GRCm39) |
T431P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,377,648 (GRCm39) |
T125A |
probably benign |
Het |
| Atp10a |
TGTCCGTC |
TGTC |
7: 58,389,994 (GRCm39) |
|
probably null |
Het |
| Bscl2 |
A |
T |
19: 8,822,643 (GRCm39) |
R195* |
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,508,081 (GRCm39) |
V656I |
possibly damaging |
Het |
| Ccr4 |
T |
C |
9: 114,321,714 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,376,085 (GRCm39) |
D355V |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,749,558 (GRCm39) |
I259N |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,793,020 (GRCm39) |
I252V |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,696,472 (GRCm39) |
V895A |
probably benign |
Het |
| Ect2 |
A |
G |
3: 27,156,635 (GRCm39) |
V775A |
probably benign |
Het |
| Gm14486 |
T |
C |
2: 30,548,889 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,756,393 (GRCm39) |
N444S |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,102,703 (GRCm39) |
D1225G |
probably damaging |
Het |
| Il1rl2 |
G |
A |
1: 40,382,254 (GRCm39) |
V189I |
probably benign |
Het |
| Kif1a |
G |
A |
1: 93,003,876 (GRCm39) |
|
probably null |
Het |
| Ltbr |
T |
A |
6: 125,289,733 (GRCm39) |
T154S |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,690 (GRCm39) |
V244I |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,378,251 (GRCm39) |
|
probably null |
Het |
| Ndufs1 |
A |
G |
1: 63,204,106 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,268,913 (GRCm39) |
N496K |
possibly damaging |
Het |
| Nkd2 |
A |
G |
13: 73,973,195 (GRCm39) |
V147A |
probably benign |
Het |
| Nlrp3 |
G |
C |
11: 59,457,025 (GRCm39) |
R1013P |
probably benign |
Het |
| Or4d11 |
C |
A |
19: 12,013,288 (GRCm39) |
V273F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,599 (GRCm39) |
Y258* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,919,598 (GRCm39) |
S263G |
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,004,785 (GRCm39) |
I520F |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,263,688 (GRCm39) |
T196A |
probably benign |
Het |
| Podn |
T |
A |
4: 107,872,043 (GRCm39) |
D400V |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,943,357 (GRCm39) |
V147A |
possibly damaging |
Het |
| Prkar2a |
A |
G |
9: 108,622,690 (GRCm39) |
N315D |
probably benign |
Het |
| Rac2 |
A |
G |
15: 78,449,134 (GRCm39) |
I13T |
possibly damaging |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Relch |
T |
A |
1: 105,619,711 (GRCm39) |
N313K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,279,196 (GRCm39) |
I240S |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tead4 |
A |
C |
6: 128,271,262 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,460,019 (GRCm39) |
A444V |
possibly damaging |
Het |
| Tgds |
A |
T |
14: 118,365,639 (GRCm39) |
I73K |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,612,794 (GRCm39) |
T110K |
probably damaging |
Het |
| Trim30a |
T |
A |
7: 104,060,913 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,548,636 (GRCm39) |
T636I |
probably damaging |
Het |
| Ybey |
G |
A |
10: 76,304,173 (GRCm39) |
R10W |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,820,532 (GRCm39) |
I576V |
probably benign |
Het |
| Zfp64 |
T |
C |
2: 168,768,304 (GRCm39) |
D436G |
probably damaging |
Het |
|
| Other mutations in Ccn6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Ccn6
|
APN |
10 |
39,034,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Ccn6
|
APN |
10 |
39,030,989 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02675:Ccn6
|
APN |
10 |
39,027,236 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03160:Ccn6
|
APN |
10 |
39,029,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Ccn6
|
APN |
10 |
39,029,163 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0666:Ccn6
|
UTSW |
10 |
39,027,285 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1350:Ccn6
|
UTSW |
10 |
39,034,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1478:Ccn6
|
UTSW |
10 |
39,029,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Ccn6
|
UTSW |
10 |
39,029,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Ccn6
|
UTSW |
10 |
39,029,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Ccn6
|
UTSW |
10 |
39,030,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3975:Ccn6
|
UTSW |
10 |
39,031,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Ccn6
|
UTSW |
10 |
39,034,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Ccn6
|
UTSW |
10 |
39,030,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6775:Ccn6
|
UTSW |
10 |
39,027,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7053:Ccn6
|
UTSW |
10 |
39,034,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Ccn6
|
UTSW |
10 |
39,034,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7253:Ccn6
|
UTSW |
10 |
39,031,031 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7367:Ccn6
|
UTSW |
10 |
39,034,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Ccn6
|
UTSW |
10 |
39,034,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Ccn6
|
UTSW |
10 |
39,027,207 (GRCm39) |
nonsense |
probably null |
|
|
R8547:Ccn6
|
UTSW |
10 |
39,027,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Ccn6
|
UTSW |
10 |
39,027,167 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCACCTGACATTGTCTTGTAG -3'
(R):5'- CAACCTTTCTGTAGATGTTTCTGTG -3'
Sequencing Primer
(F):5'- ACCTGACATTGTCTTGTAGCTTGC -3'
(R):5'- TTCTGTGAAGGAAATTCTAAAGGAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation