Incidental Mutation 'R6763:Ccbe1'
| ID |
531797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccbe1
|
| Ensembl Gene |
ENSMUSG00000046318 |
| Gene Name |
collagen and calcium binding EGF domains 1 |
| Synonyms |
9430093N24Rik, 4933426F18Rik |
| MMRRC Submission |
044879-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
66189926-66424909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66194459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 376
(F376I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061103]
[ENSMUST00000130300]
|
| AlphaFold |
Q3MI99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061103
AA Change: F376I
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052011
Gene: ENSMUSG00000046318
AA Change: F376I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
EGF
|
93 |
134 |
7.95e0 |
SMART |
|
EGF_CA
|
135 |
176 |
1.69e-12 |
SMART |
|
Pfam:Collagen
|
246 |
295 |
7.7e-9 |
PFAM |
|
Pfam:Collagen
|
299 |
337 |
1.2e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130300
AA Change: F376I
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117636
Gene: ENSMUSG00000046318
AA Change: F376I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
EGF
|
93 |
134 |
7.95e0 |
SMART |
|
EGF_CA
|
135 |
176 |
1.69e-12 |
SMART |
|
Pfam:Collagen
|
246 |
295 |
7.4e-9 |
PFAM |
|
low complexity region
|
302 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
336 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
| Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
| Adra1b |
A |
G |
11: 43,666,833 (GRCm39) |
L468P |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
| Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
| Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
| Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,947,809 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,944,208 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,231 (GRCm39) |
Y629C |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
| Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
| Rab11fip5 |
A |
G |
6: 85,319,152 (GRCm39) |
L579S |
probably benign |
Het |
| Rtca |
A |
G |
3: 116,301,398 (GRCm39) |
|
probably null |
Het |
| Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
| Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
probably damaging |
Het |
|
| Other mutations in Ccbe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01811:Ccbe1
|
APN |
18 |
66,199,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0032:Ccbe1
|
UTSW |
18 |
66,424,723 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0575:Ccbe1
|
UTSW |
18 |
66,227,066 (GRCm39) |
splice site |
probably benign |
|
|
R0722:Ccbe1
|
UTSW |
18 |
66,217,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Ccbe1
|
UTSW |
18 |
66,199,900 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4642:Ccbe1
|
UTSW |
18 |
66,424,654 (GRCm39) |
intron |
probably benign |
|
|
R5218:Ccbe1
|
UTSW |
18 |
66,216,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Ccbe1
|
UTSW |
18 |
66,216,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5369:Ccbe1
|
UTSW |
18 |
66,194,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Ccbe1
|
UTSW |
18 |
66,209,426 (GRCm39) |
nonsense |
probably null |
|
|
R5865:Ccbe1
|
UTSW |
18 |
66,216,222 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6752:Ccbe1
|
UTSW |
18 |
66,209,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7226:Ccbe1
|
UTSW |
18 |
66,216,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Ccbe1
|
UTSW |
18 |
66,199,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Ccbe1
|
UTSW |
18 |
66,209,462 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGAAAACCGGGTTTGG -3'
(R):5'- GGAGAGTAACTTTACAGCTTCCG -3'
Sequencing Primer
(F):5'- TTGGAAAACCGGGTTTGGAAACAG -3'
(R):5'- TACCCCTGCGGTAAGTGACTTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation