Incidental Mutation 'IGL00786:Ccnl2'
| ID |
13345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccnl2
|
| Ensembl Gene |
ENSMUSG00000029068 |
| Gene Name |
cyclin L2 |
| Synonyms |
1700010A01Rik, Pcee, 1810019L15Rik, ania-6b, 2010319M22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
IGL00786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155896946-155909000 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155905337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 284
(R284W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030944]
|
| AlphaFold |
Q9JJA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030944
AA Change: R284W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030944
Gene: ENSMUSG00000029068
AA Change: R284W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
30 |
N/A |
INTRINSIC |
|
CYCLIN
|
81 |
183 |
8.74e-11 |
SMART |
|
Cyclin_C
|
192 |
315 |
9.58e-5 |
SMART |
|
CYCLIN
|
196 |
280 |
1.24e-15 |
SMART |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
428 |
N/A |
INTRINSIC |
|
Blast:CYCLIN
|
429 |
478 |
5e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126346
|
| SMART Domains |
Protein: ENSMUSP00000116000
Gene: ENSMUSG00000029068
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CYCLIN
|
2 |
52 |
2e-28 |
BLAST |
|
SCOP:d1vin_1
|
29 |
59 |
9e-4 |
SMART |
|
SCOP:d1jkw_2
|
62 |
87 |
8e-4 |
SMART |
|
Blast:CYCLIN
|
65 |
87 |
5e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139066
|
| 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 belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,265,851 (GRCm39) |
N242S |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,120,522 (GRCm39) |
A3646E |
probably damaging |
Het |
| Akt1 |
C |
A |
12: 112,624,105 (GRCm39) |
G233V |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,904,149 (GRCm39) |
E320G |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,098,266 (GRCm39) |
I136N |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,009,172 (GRCm39) |
C238Y |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,403,919 (GRCm39) |
V47A |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,652,106 (GRCm39) |
V341F |
probably damaging |
Het |
| Cst3 |
A |
T |
2: 148,714,797 (GRCm39) |
C93* |
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,291 (GRCm39) |
V119A |
probably damaging |
Het |
| Dmap1 |
C |
T |
4: 117,533,593 (GRCm39) |
R225Q |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,050,460 (GRCm39) |
S479P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,936,507 (GRCm39) |
Y528C |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| G6pc3 |
A |
G |
11: 102,083,931 (GRCm39) |
M186V |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,317 (GRCm39) |
V509A |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,132,063 (GRCm39) |
H347N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,402 (GRCm39) |
S188P |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,910,001 (GRCm39) |
V118A |
probably benign |
Het |
| Mthfsd |
C |
T |
8: 121,831,207 (GRCm39) |
R91Q |
probably damaging |
Het |
| Otor |
G |
A |
2: 142,921,846 (GRCm39) |
V86I |
probably damaging |
Het |
| Pdk2 |
T |
A |
11: 94,922,761 (GRCm39) |
T140S |
probably benign |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,929 (GRCm39) |
N78S |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,029,552 (GRCm39) |
T992M |
probably damaging |
Het |
| Sdad1 |
A |
T |
5: 92,451,632 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,861,101 (GRCm39) |
S71P |
possibly damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,257,231 (GRCm39) |
V390E |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,674 (GRCm39) |
I231V |
probably benign |
Het |
| Vim |
T |
C |
2: 13,583,321 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ccnl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Ccnl2
|
APN |
4 |
155,904,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02029:Ccnl2
|
APN |
4 |
155,906,319 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03244:Ccnl2
|
APN |
4 |
155,905,479 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2069:Ccnl2
|
UTSW |
4 |
155,896,938 (GRCm39) |
splice site |
probably null |
|
|
R4996:Ccnl2
|
UTSW |
4 |
155,897,981 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7206:Ccnl2
|
UTSW |
4 |
155,905,431 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8304:Ccnl2
|
UTSW |
4 |
155,897,679 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2012-12-06 |
Incidental Mutation