Incidental Mutation 'IGL02973:Cdc5l'
ID |
365883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdc5l
|
Ensembl Gene |
ENSMUSG00000023932 |
Gene Name |
cell division cycle 5-like |
Synonyms |
1200002I02Rik, PCDC5RP |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL02973
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
45702809-45744633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45715573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 680
(A680S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024727]
|
AlphaFold |
Q6A068 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024727
AA Change: A680S
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000024727 Gene: ENSMUSG00000023932 AA Change: A680S
Domain | Start | End | E-Value | Type |
SANT
|
7 |
56 |
4.41e-15 |
SMART |
SANT
|
59 |
106 |
6.29e-11 |
SMART |
coiled coil region
|
150 |
181 |
N/A |
INTRINSIC |
Blast:SANT
|
187 |
233 |
5e-23 |
BLAST |
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
Pfam:Myb_Cef
|
404 |
655 |
3.1e-85 |
PFAM |
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
802 |
N/A |
INTRINSIC |
|
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 shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
G |
2: 163,573,053 (GRCm39) |
L193P |
probably benign |
Het |
Ago2 |
A |
T |
15: 72,995,314 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,500,511 (GRCm39) |
S987P |
probably damaging |
Het |
Ap2a2 |
T |
C |
7: 141,211,277 (GRCm39) |
F938L |
possibly damaging |
Het |
Arhgap35 |
A |
G |
7: 16,296,803 (GRCm39) |
V754A |
possibly damaging |
Het |
Atp10b |
A |
T |
11: 43,088,336 (GRCm39) |
N314I |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,867,849 (GRCm39) |
V291A |
probably damaging |
Het |
Ccm2 |
C |
A |
11: 6,534,544 (GRCm39) |
P19T |
probably damaging |
Het |
Cds1 |
A |
G |
5: 101,960,376 (GRCm39) |
T276A |
probably damaging |
Het |
Cit |
A |
G |
5: 116,144,058 (GRCm39) |
R1976G |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,803,020 (GRCm39) |
D1315G |
unknown |
Het |
Emilin1 |
T |
G |
5: 31,078,007 (GRCm39) |
L922R |
probably damaging |
Het |
Fank1 |
T |
C |
7: 133,478,578 (GRCm39) |
L213P |
probably damaging |
Het |
Foxc2 |
T |
C |
8: 121,844,788 (GRCm39) |
S479P |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,732,442 (GRCm39) |
R563H |
possibly damaging |
Het |
Hoxb13 |
A |
G |
11: 96,085,669 (GRCm39) |
Y134C |
probably damaging |
Het |
Krtap4-16 |
A |
T |
11: 99,742,167 (GRCm39) |
C78S |
possibly damaging |
Het |
Lars1 |
C |
T |
18: 42,347,824 (GRCm39) |
|
probably null |
Het |
Lipe |
T |
C |
7: 25,083,057 (GRCm39) |
N740S |
probably damaging |
Het |
Mbd1 |
C |
T |
18: 74,408,498 (GRCm39) |
|
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,203,721 (GRCm39) |
D1700G |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,403,297 (GRCm39) |
Y338H |
probably damaging |
Het |
Pdgfrl |
A |
G |
8: 41,438,631 (GRCm39) |
D189G |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,900,239 (GRCm39) |
Y121C |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,646,546 (GRCm39) |
N1293S |
probably damaging |
Het |
Ppm1e |
C |
A |
11: 87,131,488 (GRCm39) |
A302S |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,916 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,990,618 (GRCm39) |
W52R |
probably damaging |
Het |
Skint8 |
T |
C |
4: 111,796,790 (GRCm39) |
V298A |
probably benign |
Het |
Tulp1 |
A |
T |
17: 28,577,516 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
A |
3: 141,494,651 (GRCm39) |
D321E |
probably benign |
Het |
Usp16 |
G |
A |
16: 87,276,627 (GRCm39) |
C654Y |
probably damaging |
Het |
Vwce |
G |
A |
19: 10,632,764 (GRCm39) |
W575* |
probably null |
Het |
Wdr89 |
T |
G |
12: 75,679,873 (GRCm39) |
D127A |
probably damaging |
Het |
Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
Zfp942 |
A |
G |
17: 22,151,972 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cdc5l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01589:Cdc5l
|
APN |
17 |
45,715,602 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01629:Cdc5l
|
APN |
17 |
45,724,116 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02596:Cdc5l
|
APN |
17 |
45,735,530 (GRCm39) |
splice site |
probably benign |
|
IGL03102:Cdc5l
|
APN |
17 |
45,718,857 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03113:Cdc5l
|
APN |
17 |
45,744,348 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0255:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R0333:Cdc5l
|
UTSW |
17 |
45,704,142 (GRCm39) |
splice site |
probably benign |
|
R0432:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R0551:Cdc5l
|
UTSW |
17 |
45,726,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Cdc5l
|
UTSW |
17 |
45,704,073 (GRCm39) |
missense |
probably benign |
0.10 |
R1462:Cdc5l
|
UTSW |
17 |
45,719,288 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1462:Cdc5l
|
UTSW |
17 |
45,719,288 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1483:Cdc5l
|
UTSW |
17 |
45,719,290 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1634:Cdc5l
|
UTSW |
17 |
45,715,632 (GRCm39) |
missense |
probably damaging |
0.99 |
R1751:Cdc5l
|
UTSW |
17 |
45,718,731 (GRCm39) |
missense |
probably benign |
|
R1954:Cdc5l
|
UTSW |
17 |
45,737,442 (GRCm39) |
splice site |
probably null |
|
R1955:Cdc5l
|
UTSW |
17 |
45,737,442 (GRCm39) |
splice site |
probably null |
|
R2197:Cdc5l
|
UTSW |
17 |
45,718,745 (GRCm39) |
missense |
probably benign |
0.00 |
R2229:Cdc5l
|
UTSW |
17 |
45,718,772 (GRCm39) |
missense |
probably benign |
0.04 |
R4060:Cdc5l
|
UTSW |
17 |
45,721,816 (GRCm39) |
missense |
probably benign |
0.00 |
R4061:Cdc5l
|
UTSW |
17 |
45,721,816 (GRCm39) |
missense |
probably benign |
0.00 |
R4064:Cdc5l
|
UTSW |
17 |
45,721,816 (GRCm39) |
missense |
probably benign |
0.00 |
R4172:Cdc5l
|
UTSW |
17 |
45,730,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R4334:Cdc5l
|
UTSW |
17 |
45,721,712 (GRCm39) |
missense |
probably benign |
0.00 |
R5093:Cdc5l
|
UTSW |
17 |
45,703,967 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5268:Cdc5l
|
UTSW |
17 |
45,726,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R5729:Cdc5l
|
UTSW |
17 |
45,737,495 (GRCm39) |
missense |
probably benign |
0.39 |
R6190:Cdc5l
|
UTSW |
17 |
45,718,943 (GRCm39) |
missense |
probably benign |
0.08 |
R6462:Cdc5l
|
UTSW |
17 |
45,703,975 (GRCm39) |
missense |
probably benign |
|
R6540:Cdc5l
|
UTSW |
17 |
45,737,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Cdc5l
|
UTSW |
17 |
45,738,863 (GRCm39) |
critical splice donor site |
probably null |
|
R7381:Cdc5l
|
UTSW |
17 |
45,722,849 (GRCm39) |
missense |
probably benign |
0.00 |
R7589:Cdc5l
|
UTSW |
17 |
45,721,707 (GRCm39) |
missense |
probably benign |
0.41 |
R8120:Cdc5l
|
UTSW |
17 |
45,718,796 (GRCm39) |
missense |
probably benign |
0.00 |
R8424:Cdc5l
|
UTSW |
17 |
45,726,526 (GRCm39) |
missense |
probably benign |
0.27 |
R8495:Cdc5l
|
UTSW |
17 |
45,737,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R8875:Cdc5l
|
UTSW |
17 |
45,703,915 (GRCm39) |
splice site |
probably benign |
|
R8884:Cdc5l
|
UTSW |
17 |
45,744,467 (GRCm39) |
start gained |
probably benign |
|
R8927:Cdc5l
|
UTSW |
17 |
45,721,839 (GRCm39) |
missense |
|
|
R8928:Cdc5l
|
UTSW |
17 |
45,721,839 (GRCm39) |
missense |
|
|
R8958:Cdc5l
|
UTSW |
17 |
45,704,127 (GRCm39) |
missense |
probably benign |
0.00 |
R8974:Cdc5l
|
UTSW |
17 |
45,715,621 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9259:Cdc5l
|
UTSW |
17 |
45,736,817 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9622:Cdc5l
|
UTSW |
17 |
45,715,709 (GRCm39) |
missense |
probably benign |
|
R9716:Cdc5l
|
UTSW |
17 |
45,744,500 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2015-12-18 |