Incidental Mutation 'R8875:Cdc5l'
| ID |
695733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc5l
|
| Ensembl Gene |
ENSMUSG00000023932 |
| Gene Name |
cell division cycle 5-like |
| Synonyms |
1200002I02Rik, PCDC5RP |
| MMRRC Submission |
068687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R8875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45702809-45744633 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 45703915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024727]
|
| AlphaFold |
Q6A068 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024727
|
| SMART Domains |
Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
G |
11: 70,126,380 (GRCm39) |
V140A |
|
Het |
| Ablim1 |
G |
T |
19: 57,119,386 (GRCm39) |
H233N |
probably benign |
Het |
| Adra1a |
A |
T |
14: 66,875,214 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,233 (GRCm39) |
D245G |
unknown |
Het |
| Ap4e1 |
T |
C |
2: 126,877,100 (GRCm39) |
I279T |
probably damaging |
Het |
| Bap1 |
T |
G |
14: 30,975,522 (GRCm39) |
F122C |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,151,783 (GRCm39) |
I309N |
probably damaging |
Het |
| Cnpy3 |
T |
C |
17: 47,048,185 (GRCm39) |
I177V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,027,994 (GRCm39) |
K467E |
possibly damaging |
Het |
| D630039A03Rik |
T |
G |
4: 57,910,320 (GRCm39) |
N164T |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,682,682 (GRCm39) |
A263S |
probably benign |
Het |
| Eif2s1 |
G |
A |
12: 78,913,461 (GRCm39) |
R54Q |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,703,224 (GRCm39) |
D1600E |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,493,600 (GRCm39) |
F3915L |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,093 (GRCm39) |
S142T |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,406,380 (GRCm39) |
Y1159C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,820,782 (GRCm39) |
V5505D |
possibly damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,379,514 (GRCm39) |
M296T |
probably damaging |
Het |
| Gm11562 |
A |
T |
11: 99,511,177 (GRCm39) |
S8T |
unknown |
Het |
| Hoxd11 |
A |
G |
2: 74,513,365 (GRCm39) |
D210G |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,469,101 (GRCm39) |
V171A |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,301,353 (GRCm39) |
Y775C |
unknown |
Het |
| Nherf2 |
T |
A |
17: 24,866,703 (GRCm39) |
|
probably null |
Het |
| Nr2f1 |
A |
C |
13: 78,337,970 (GRCm39) |
I382S |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Or51l4 |
G |
A |
7: 103,404,462 (GRCm39) |
S110F |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,670 (GRCm39) |
T81A |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,092 (GRCm39) |
D269N |
probably benign |
Het |
| Pira12 |
A |
G |
7: 3,897,256 (GRCm39) |
S527P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,637,121 (GRCm39) |
Y114H |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,618,391 (GRCm39) |
C715R |
probably damaging |
Het |
| Plin4 |
G |
A |
17: 56,411,010 (GRCm39) |
A1007V |
probably benign |
Het |
| Ptprs |
G |
T |
17: 56,742,946 (GRCm39) |
P399T |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,507,186 (GRCm39) |
I1181N |
possibly damaging |
Het |
| Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,938,841 (GRCm39) |
E477G |
probably damaging |
Het |
| Rpl7 |
T |
C |
1: 16,173,753 (GRCm39) |
K57R |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,123,476 (GRCm39) |
A3178V |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,832,728 (GRCm39) |
C99Y |
probably damaging |
Het |
| Tas1r1 |
T |
A |
4: 152,113,047 (GRCm39) |
T669S |
probably benign |
Het |
| Tle5 |
A |
T |
10: 81,400,534 (GRCm39) |
I73F |
probably benign |
Het |
| Tm2d2 |
T |
C |
8: 25,507,443 (GRCm39) |
L20P |
possibly damaging |
Het |
| Tmem158 |
G |
T |
9: 123,089,132 (GRCm39) |
A160E |
possibly damaging |
Het |
| Tpst2 |
T |
A |
5: 112,457,714 (GRCm39) |
Y347* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,887,493 (GRCm39) |
I876T |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,776,194 (GRCm39) |
S1713T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,549 (GRCm39) |
S69P |
possibly damaging |
Het |
| Zfp982 |
C |
A |
4: 147,595,320 (GRCm39) |
N47K |
probably benign |
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 |
|
|
IGL02973:Cdc5l
|
APN |
17 |
45,715,573 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGAGAAGAGTCTTCAGAGC -3'
(R):5'- TAAACAGGGGTCACATGACAAC -3'
Sequencing Primer
(F):5'- CTTCAGAGCAGCAATCGTTG -3'
(R):5'- GGGTCACATGACAACAGAAGCC -3'
|
| Posted On |
2022-01-21 |
Incidental Mutation