Incidental Mutation 'IGL01811:Ccbe1'
| ID |
154277 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccbe1
|
| Ensembl Gene |
ENSMUSG00000046318 |
| Gene Name |
collagen and calcium binding EGF domains 1 |
| Synonyms |
9430093N24Rik, 4933426F18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
66189926-66424909 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 66199798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061103]
[ENSMUST00000130300]
|
| AlphaFold |
Q3MI99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061103
|
| SMART Domains |
Protein: ENSMUSP00000052011
Gene: ENSMUSG00000046318
| 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 |
probably null
Transcript: ENSMUST00000130300
|
| SMART Domains |
Protein: ENSMUSP00000117636
Gene: ENSMUSG00000046318
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146610
|
| Coding Region Coverage |
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
G |
A |
13: 95,488,080 (GRCm39) |
T689I |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,210,600 (GRCm39) |
V343A |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,903,895 (GRCm39) |
I204V |
possibly damaging |
Het |
| Cpeb3 |
G |
A |
19: 37,022,008 (GRCm39) |
R613C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,796,440 (GRCm39) |
F1821I |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,203,173 (GRCm39) |
Q694L |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,762,462 (GRCm39) |
S802P |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,707,803 (GRCm39) |
C397R |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,583,823 (GRCm39) |
V63D |
probably damaging |
Het |
| Or4c101 |
C |
T |
2: 88,390,409 (GRCm39) |
L199F |
probably benign |
Het |
| Pycr1 |
T |
A |
11: 120,532,092 (GRCm39) |
S225C |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,960,307 (GRCm39) |
C187S |
probably damaging |
Het |
| Tnfrsf21 |
A |
C |
17: 43,348,504 (GRCm39) |
I39L |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,934,705 (GRCm39) |
D972G |
probably damaging |
Het |
|
| Other mutations in Ccbe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R6763:Ccbe1
|
UTSW |
18 |
66,194,459 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation