Incidental Mutation 'R8495:Cdc5l'
| ID |
658251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc5l
|
| Ensembl Gene |
ENSMUSG00000023932 |
| Gene Name |
cell division cycle 5-like |
| Synonyms |
1200002I02Rik, PCDC5RP |
| MMRRC Submission |
067937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R8495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45702809-45744633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45737449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 103
(L103P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024727]
|
| AlphaFold |
Q6A068 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024727
AA Change: L103P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: L103P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
A |
G |
5: 48,536,699 (GRCm39) |
T132A |
possibly damaging |
Het |
| Abcb1b |
T |
G |
5: 8,915,865 (GRCm39) |
V1249G |
probably damaging |
Het |
| Clrn2 |
G |
T |
5: 45,617,485 (GRCm39) |
A119S |
possibly damaging |
Het |
| Cop1 |
A |
T |
1: 159,077,600 (GRCm39) |
H145L |
probably benign |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,794,161 (GRCm39) |
E660G |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,952,472 (GRCm39) |
Y51C |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,409,414 (GRCm39) |
I3611V |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,181,622 (GRCm39) |
L1647Q |
probably benign |
Het |
| Dpy19l4 |
G |
A |
4: 11,267,659 (GRCm39) |
T427M |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,487,103 (GRCm39) |
L417P |
probably benign |
Het |
| Eng |
A |
G |
2: 32,568,906 (GRCm39) |
S477G |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,870,012 (GRCm39) |
I424T |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,408,473 (GRCm39) |
V253A |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,531,139 (GRCm39) |
I546V |
possibly damaging |
Het |
| Fcgbp |
T |
G |
7: 27,785,978 (GRCm39) |
Y472D |
probably damaging |
Het |
| Gm43302 |
A |
T |
5: 105,424,570 (GRCm39) |
C357S |
possibly damaging |
Het |
| Gm47189 |
T |
C |
14: 41,492,053 (GRCm39) |
T75A |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,496,908 (GRCm39) |
M1V |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,401,084 (GRCm39) |
I618F |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,477 (GRCm39) |
F125L |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,593 (GRCm39) |
M41K |
possibly damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,775 (GRCm39) |
H162Y |
probably benign |
Het |
| Potefam1 |
C |
T |
2: 111,059,755 (GRCm39) |
M1I |
probably null |
Het |
| Potegl |
A |
G |
2: 23,097,852 (GRCm39) |
E10G |
probably benign |
Het |
| Rad9b |
T |
C |
5: 122,471,096 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,336,664 (GRCm39) |
F368S |
probably damaging |
Het |
| Rsph4a |
G |
A |
10: 33,781,488 (GRCm39) |
A113T |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,450,992 (GRCm39) |
N270I |
probably benign |
Het |
| Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
| Spsb4 |
A |
G |
9: 96,877,622 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,043,051 (GRCm39) |
R1399Q |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,877,790 (GRCm39) |
D749G |
probably damaging |
Het |
| Tas2r115 |
A |
T |
6: 132,714,887 (GRCm39) |
N21K |
probably damaging |
Het |
| Tbkbp1 |
A |
G |
11: 97,037,429 (GRCm39) |
V221A |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,261,749 (GRCm39) |
N663K |
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,640,119 (GRCm39) |
I170K |
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,349,128 (GRCm39) |
E247K |
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,879 (GRCm39) |
C170Y |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,174,617 (GRCm39) |
E349* |
probably null |
Het |
| Xpo7 |
A |
G |
14: 70,907,989 (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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTAAGATGAGTGTGACTTGC -3'
(R):5'- AGCATGTGATCTTAGAGTCAGAAC -3'
Sequencing Primer
(F):5'- GTGACTTGCACACTTCTAAAGGAG -3'
(R):5'- ACTAACGTTTGCGATGTTGCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation