Incidental Mutation 'R5562:Cdc25b'
| ID |
501198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc25b
|
| Ensembl Gene |
ENSMUSG00000027330 |
| Gene Name |
cell division cycle 25B |
| Synonyms |
|
| MMRRC Submission |
043119-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
131028869-131040417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131036678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 493
(M493V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028804]
[ENSMUST00000079857]
|
| AlphaFold |
P30306 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028804
AA Change: M493V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028804
Gene: ENSMUSG00000027330
AA Change: M493V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
105 |
N/A |
INTRINSIC |
|
Pfam:M-inducer_phosp
|
111 |
379 |
3.3e-103 |
PFAM |
|
RHOD
|
417 |
531 |
4.29e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079857
AA Change: M467V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078784
Gene: ENSMUSG00000027330
AA Change: M467V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
105 |
N/A |
INTRINSIC |
|
Pfam:M-inducer_phosp
|
111 |
354 |
2.4e-78 |
PFAM |
|
RHOD
|
391 |
505 |
4.29e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141732
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145556
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: The resumption of meiosis during oocyte maturation is blocked in homozygous mutant female mice, resulting in female infertility. Male mice do not show an overt reproductive phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
| Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
| Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
| Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
| Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
| Cyp2j8 |
A |
G |
4: 96,358,890 (GRCm39) |
I343T |
probably damaging |
Het |
| Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
| Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
| Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
| Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
| Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
| Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
| Nherf2 |
A |
G |
17: 24,860,798 (GRCm39) |
V137A |
probably benign |
Het |
| Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
| Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
| Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc30a6 |
C |
T |
17: 74,719,700 (GRCm39) |
T220I |
possibly damaging |
Het |
| Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
| Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,317 (GRCm39) |
M123L |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,649,557 (GRCm39) |
D669N |
probably benign |
Het |
| Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
probably benign |
Het |
|
| Other mutations in Cdc25b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03230:Cdc25b
|
APN |
2 |
131,030,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0471:Cdc25b
|
UTSW |
2 |
131,039,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Cdc25b
|
UTSW |
2 |
131,039,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0645:Cdc25b
|
UTSW |
2 |
131,033,533 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0673:Cdc25b
|
UTSW |
2 |
131,039,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1574:Cdc25b
|
UTSW |
2 |
131,033,057 (GRCm39) |
splice site |
probably benign |
|
|
R4094:Cdc25b
|
UTSW |
2 |
131,031,037 (GRCm39) |
missense |
probably benign |
|
|
R4433:Cdc25b
|
UTSW |
2 |
131,033,618 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4722:Cdc25b
|
UTSW |
2 |
131,035,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Cdc25b
|
UTSW |
2 |
131,035,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Cdc25b
|
UTSW |
2 |
131,035,525 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5345:Cdc25b
|
UTSW |
2 |
131,034,516 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5407:Cdc25b
|
UTSW |
2 |
131,035,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Cdc25b
|
UTSW |
2 |
131,033,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Cdc25b
|
UTSW |
2 |
131,033,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Cdc25b
|
UTSW |
2 |
131,029,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7204:Cdc25b
|
UTSW |
2 |
131,033,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7292:Cdc25b
|
UTSW |
2 |
131,033,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Cdc25b
|
UTSW |
2 |
131,036,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Cdc25b
|
UTSW |
2 |
131,036,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Cdc25b
|
UTSW |
2 |
131,031,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8186:Cdc25b
|
UTSW |
2 |
131,031,050 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8783:Cdc25b
|
UTSW |
2 |
131,033,772 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8985:Cdc25b
|
UTSW |
2 |
131,035,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Cdc25b
|
UTSW |
2 |
131,033,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9153:Cdc25b
|
UTSW |
2 |
131,034,564 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTACTTACCTGGGAACCG -3'
(R):5'- TGGCTAAAAGATGGTCTGATGATG -3'
Sequencing Primer
(F):5'- CAAGAAGGGGCGTGGTGC -3'
(R):5'- CTAAAAGATGGTCTGATGATGTGAAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation