Incidental Mutation 'IGL01826:Ccm2l'
| ID |
154678 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccm2l
|
| Ensembl Gene |
ENSMUSG00000027474 |
| Gene Name |
cerebral cavernous malformation 2-like |
| Synonyms |
BC020535 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152907875-152923655 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 152909853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109800]
[ENSMUST00000129377]
|
| AlphaFold |
Q8VCC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109800
|
| SMART Domains |
Protein: ENSMUSP00000105425
Gene: ENSMUSG00000027474
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
60 |
160 |
9e-16 |
BLAST |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
236 |
251 |
1.67e-6 |
PROSPERO |
|
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
262 |
280 |
1.67e-6 |
PROSPERO |
|
low complexity region
|
372 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129377
|
| SMART Domains |
Protein: ENSMUSP00000122732
Gene: ENSMUSG00000027474
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
60 |
136 |
7e-9 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele exhibit delayed wound healing and show impaired tumor growth, poor tumor vascularization, and decreased metastatic potential following injection of Lewis Lung Carcinoma (LLC) cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
A |
7: 45,774,273 (GRCm39) |
D769V |
probably benign |
Het |
| Afm |
T |
A |
5: 90,672,787 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
A |
G |
4: 126,297,075 (GRCm39) |
S181P |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,301 (GRCm39) |
V156A |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,503,765 (GRCm39) |
|
probably null |
Het |
| Ear6 |
A |
G |
14: 52,091,722 (GRCm39) |
I90V |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,812,983 (GRCm39) |
S3101A |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,216,314 (GRCm39) |
H384N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,901,318 (GRCm39) |
I235V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 41,339,246 (GRCm39) |
G752C |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,599,835 (GRCm39) |
D659G |
possibly damaging |
Het |
| Odad1 |
T |
A |
7: 45,597,810 (GRCm39) |
S573R |
possibly damaging |
Het |
| Plb1 |
A |
C |
5: 32,438,489 (GRCm39) |
D208A |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,727,682 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,076,282 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
A |
T |
15: 83,974,247 (GRCm39) |
S141T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,177,548 (GRCm39) |
K38M |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Zfp451 |
G |
A |
1: 33,821,243 (GRCm39) |
T203M |
probably damaging |
Het |
|
| Other mutations in Ccm2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Ccm2l
|
APN |
2 |
152,922,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL02821:Ccm2l
|
APN |
2 |
152,909,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Ccm2l
|
APN |
2 |
152,920,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03237:Ccm2l
|
APN |
2 |
152,907,922 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0103:Ccm2l
|
UTSW |
2 |
152,909,839 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Ccm2l
|
UTSW |
2 |
152,909,839 (GRCm39) |
nonsense |
probably null |
|
|
R0420:Ccm2l
|
UTSW |
2 |
152,912,782 (GRCm39) |
missense |
probably null |
0.08 |
|
R0617:Ccm2l
|
UTSW |
2 |
152,912,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0760:Ccm2l
|
UTSW |
2 |
152,914,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1309:Ccm2l
|
UTSW |
2 |
152,912,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4787:Ccm2l
|
UTSW |
2 |
152,921,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7106:Ccm2l
|
UTSW |
2 |
152,912,571 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7159:Ccm2l
|
UTSW |
2 |
152,912,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Ccm2l
|
UTSW |
2 |
152,912,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Ccm2l
|
UTSW |
2 |
152,909,695 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8852:Ccm2l
|
UTSW |
2 |
152,916,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Ccm2l
|
UTSW |
2 |
152,909,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Ccm2l
|
UTSW |
2 |
152,916,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation