Incidental Mutation 'R6462:Cdc5l'
| ID |
517655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc5l
|
| Ensembl Gene |
ENSMUSG00000023932 |
| Gene Name |
cell division cycle 5-like |
| Synonyms |
1200002I02Rik, PCDC5RP |
| MMRRC Submission |
044596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45702809-45744633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45703975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 750
(R750C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024727]
|
| AlphaFold |
Q6A068 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024727
AA Change: R750C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: R750C
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
95% (37/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
| Ctdp1 |
C |
T |
18: 80,463,689 (GRCm39) |
E116K |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
| Me2 |
C |
A |
18: 73,908,470 (GRCm39) |
V490F |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,692,338 (GRCm39) |
T27A |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
| Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
| Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
| Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
| Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,555,596 (GRCm39) |
I587F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,720 (GRCm39) |
I344F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
| Traf3ip2 |
T |
A |
10: 39,515,243 (GRCm39) |
N340K |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATCTAAGCATAGCCAGG -3'
(R):5'- AGAGGAACCTGGTGTATTTTGC -3'
Sequencing Primer
(F):5'- TCTAAGCATAGCCAGGTCTAGATCAG -3'
(R):5'- TGCTTTAGGTACTTAGTTTAGCCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation