Incidental Mutation 'R8120:Cdc5l'
ID |
631471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc5l
|
Ensembl Gene |
ENSMUSG00000023932 |
Gene Name |
cell division cycle 5-like |
Synonyms |
1200002I02Rik, PCDC5RP |
MMRRC Submission |
067549-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R8120 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45702809-45744633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45718796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 607
(T607A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024727]
|
AlphaFold |
Q6A068 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024727
AA Change: T607A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000024727 Gene: ENSMUSG00000023932 AA Change: T607A
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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.1%
|
Validation Efficiency |
100% (57/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,349,460 (GRCm39) |
Q239L |
probably benign |
Het |
Abca12 |
T |
C |
1: 71,298,540 (GRCm39) |
I2361V |
possibly damaging |
Het |
Abcc8 |
T |
C |
7: 45,786,108 (GRCm39) |
E655G |
probably benign |
Het |
Ablim1 |
C |
T |
19: 57,035,360 (GRCm39) |
V662I |
probably benign |
Het |
Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
Als2cl |
A |
C |
9: 110,714,460 (GRCm39) |
I103L |
possibly damaging |
Het |
Arhgef26 |
A |
T |
3: 62,248,796 (GRCm39) |
D370V |
probably damaging |
Het |
Brwd1 |
A |
C |
16: 95,820,649 (GRCm39) |
D1292E |
probably benign |
Het |
Cfhr1 |
T |
C |
1: 139,475,583 (GRCm39) |
Y296C |
unknown |
Het |
Cubn |
A |
T |
2: 13,336,471 (GRCm39) |
C2452S |
probably damaging |
Het |
Dgcr2 |
A |
T |
16: 17,675,183 (GRCm39) |
Y187* |
probably null |
Het |
Dhodh |
G |
A |
8: 110,328,057 (GRCm39) |
T172I |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,002,769 (GRCm39) |
R3876C |
probably damaging |
Het |
Dnai4 |
G |
A |
4: 102,923,531 (GRCm39) |
R433W |
probably damaging |
Het |
Farsb |
A |
T |
1: 78,439,475 (GRCm39) |
N389K |
probably benign |
Het |
Fryl |
T |
C |
5: 73,228,527 (GRCm39) |
T1735A |
probably benign |
Het |
Garin4 |
T |
G |
1: 190,895,022 (GRCm39) |
Q540H |
probably damaging |
Het |
Gpcpd1 |
C |
T |
2: 132,395,943 (GRCm39) |
R136H |
probably damaging |
Het |
Gpr171 |
T |
A |
3: 59,005,406 (GRCm39) |
Y123F |
probably damaging |
Het |
Hcar1 |
C |
A |
5: 124,017,068 (GRCm39) |
V208F |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,818,779 (GRCm39) |
L524M |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,360,368 (GRCm39) |
H57Q |
probably damaging |
Het |
Itpripl2 |
G |
T |
7: 118,089,508 (GRCm39) |
N350K |
probably damaging |
Het |
Limk2 |
C |
T |
11: 3,298,589 (GRCm39) |
|
probably null |
Het |
Nae1 |
A |
T |
8: 105,246,267 (GRCm39) |
V315E |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,637,422 (GRCm39) |
Y386C |
probably benign |
Het |
Odr4 |
T |
C |
1: 150,260,177 (GRCm39) |
|
probably null |
Het |
Or10j3 |
C |
T |
1: 173,031,502 (GRCm39) |
T193I |
probably benign |
Het |
Or6z5 |
A |
T |
7: 6,477,119 (GRCm39) |
R3S |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,717,574 (GRCm39) |
A1512T |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,430,524 (GRCm39) |
D176G |
possibly damaging |
Het |
Pde4dip |
T |
A |
3: 97,614,254 (GRCm39) |
T1855S |
probably null |
Het |
Prr12 |
A |
G |
7: 44,684,166 (GRCm39) |
Y1625H |
probably damaging |
Het |
Psmc2 |
T |
C |
5: 22,005,566 (GRCm39) |
Y216H |
probably damaging |
Het |
Ptchd3 |
A |
T |
11: 121,733,034 (GRCm39) |
E641D |
probably benign |
Het |
Rtf1 |
A |
G |
2: 119,531,602 (GRCm39) |
T110A |
probably damaging |
Het |
Rusc1 |
C |
A |
3: 88,996,513 (GRCm39) |
W690L |
probably damaging |
Het |
Sardh |
A |
G |
2: 27,108,863 (GRCm39) |
V624A |
possibly damaging |
Het |
Slc17a9 |
G |
A |
2: 180,374,308 (GRCm39) |
G125S |
probably benign |
Het |
Smpdl3a |
A |
T |
10: 57,683,547 (GRCm39) |
N219I |
probably damaging |
Het |
Spo11 |
G |
T |
2: 172,827,251 (GRCm39) |
D155Y |
probably damaging |
Het |
Stk38l |
A |
G |
6: 146,660,099 (GRCm39) |
T44A |
probably benign |
Het |
Tceanc2 |
A |
T |
4: 107,034,829 (GRCm39) |
I11N |
probably benign |
Het |
Tead2 |
A |
T |
7: 44,865,752 (GRCm39) |
|
probably benign |
Het |
Tpk1 |
A |
G |
6: 43,445,930 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,593,835 (GRCm39) |
N20602D |
probably damaging |
Het |
Tub |
T |
A |
7: 108,624,803 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
T |
7: 33,867,812 (GRCm39) |
S42T |
probably benign |
Het |
Vangl1 |
T |
A |
3: 102,070,758 (GRCm39) |
R393* |
probably null |
Het |
Washc3 |
G |
A |
10: 88,037,159 (GRCm39) |
|
probably null |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp267 |
A |
T |
3: 36,218,640 (GRCm39) |
N221I |
possibly damaging |
Het |
Zfp386 |
C |
T |
12: 116,018,573 (GRCm39) |
P81S |
unknown |
Het |
Zw10 |
A |
T |
9: 48,985,413 (GRCm39) |
E616D |
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 |
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'- CCTTTGGTTCGGAGTAGCAATG -3'
(R):5'- TAGGCACAGGATATTGCAGATG -3'
Sequencing Primer
(F):5'- TTCGGAGTAGCAATGTAGCCAC -3'
(R):5'- AGATGTGTCTGATCATTTTGCTTG -3'
|
Posted On |
2020-06-30 |