Incidental Mutation 'R4135:Cdc25a'
| ID |
314854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc25a
|
| Ensembl Gene |
ENSMUSG00000032477 |
| Gene Name |
cell division cycle 25A |
| Synonyms |
D9Ertd393e |
| MMRRC Submission |
040995-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
109704647-109722963 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109710585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 157
(H157Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094324]
[ENSMUST00000198308]
[ENSMUST00000198848]
|
| AlphaFold |
P48964 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094324
AA Change: H157Q
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000091882
Gene: ENSMUSG00000032477
AA Change: H157Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:M-inducer_phosp
|
85 |
318 |
3.6e-69 |
PFAM |
|
RHOD
|
356 |
469 |
2.6e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198308
AA Change: H96Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000142958
Gene: ENSMUSG00000032477
AA Change: H96Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:M-inducer_phosp
|
24 |
258 |
1.2e-88 |
PFAM |
|
RHOD
|
295 |
408 |
5.97e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199787
|
| Meta Mutation Damage Score |
0.1650 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit elevated levels of early erythroid progenitor cell cycling but erythropoiesis is normally unaffected. Homozygous deletion of this gene is lethal and male heterozygotes display decreased vertebral trabecular bone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,905,092 (GRCm39) |
|
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,240,244 (GRCm39) |
T148S |
possibly damaging |
Het |
| Chst5 |
T |
C |
8: 112,616,816 (GRCm39) |
Y268C |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Ctsr |
T |
C |
13: 61,309,084 (GRCm39) |
T224A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,336,750 (GRCm39) |
K921E |
probably damaging |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,605,328 (GRCm39) |
K264E |
possibly damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm6987 |
T |
A |
X: 93,068,216 (GRCm39) |
|
noncoding transcript |
Het |
| Hbp1 |
A |
T |
12: 31,984,421 (GRCm39) |
L262Q |
probably damaging |
Het |
| Hsd11b2 |
T |
C |
8: 106,249,798 (GRCm39) |
V303A |
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,857,707 (GRCm39) |
D136G |
probably benign |
Het |
| Mrpl32 |
C |
T |
13: 14,787,564 (GRCm39) |
V14M |
probably damaging |
Het |
| Msl1 |
A |
G |
11: 98,687,126 (GRCm39) |
D157G |
possibly damaging |
Het |
| Mthfd1 |
G |
A |
12: 76,329,648 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,117,823 (GRCm39) |
W516R |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,210 (GRCm39) |
L226P |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,248 (GRCm39) |
V207A |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
| Or5af1 |
C |
A |
11: 58,722,820 (GRCm39) |
T280K |
probably damaging |
Het |
| Pate5 |
A |
G |
9: 35,750,724 (GRCm39) |
S33P |
possibly damaging |
Het |
| Pold3 |
T |
A |
7: 99,749,854 (GRCm39) |
R104* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,162 (GRCm39) |
N155Y |
probably damaging |
Het |
| Rorc |
C |
A |
3: 94,296,826 (GRCm39) |
Q269K |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,563 (GRCm39) |
D1223N |
possibly damaging |
Het |
| Sema6d |
T |
C |
2: 124,506,040 (GRCm39) |
I616T |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,679,581 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,810 (GRCm39) |
Y58F |
probably damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
| Washc3 |
G |
A |
10: 88,055,142 (GRCm39) |
E111K |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,741 (GRCm39) |
S3501G |
probably benign |
Het |
| Zfp1004 |
A |
T |
2: 150,023,788 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,261 (GRCm39) |
T467M |
probably damaging |
Het |
| Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Cdc25a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01658:Cdc25a
|
APN |
9 |
109,705,194 (GRCm39) |
splice site |
probably null |
|
|
IGL01761:Cdc25a
|
APN |
9 |
109,720,933 (GRCm39) |
intron |
probably benign |
|
|
IGL02808:Cdc25a
|
APN |
9 |
109,712,667 (GRCm39) |
splice site |
probably null |
|
|
IGL03241:Cdc25a
|
APN |
9 |
109,713,267 (GRCm39) |
splice site |
probably null |
|
|
P4748:Cdc25a
|
UTSW |
9 |
109,713,176 (GRCm39) |
splice site |
probably benign |
|
|
R1472:Cdc25a
|
UTSW |
9 |
109,705,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1571:Cdc25a
|
UTSW |
9 |
109,710,614 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1598:Cdc25a
|
UTSW |
9 |
109,708,961 (GRCm39) |
frame shift |
probably null |
|
|
R4301:Cdc25a
|
UTSW |
9 |
109,718,810 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4386:Cdc25a
|
UTSW |
9 |
109,718,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Cdc25a
|
UTSW |
9 |
109,713,208 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5171:Cdc25a
|
UTSW |
9 |
109,706,229 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5896:Cdc25a
|
UTSW |
9 |
109,713,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Cdc25a
|
UTSW |
9 |
109,718,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Cdc25a
|
UTSW |
9 |
109,718,842 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6240:Cdc25a
|
UTSW |
9 |
109,713,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Cdc25a
|
UTSW |
9 |
109,710,566 (GRCm39) |
missense |
probably benign |
|
|
R6854:Cdc25a
|
UTSW |
9 |
109,708,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Cdc25a
|
UTSW |
9 |
109,718,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7980:Cdc25a
|
UTSW |
9 |
109,708,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Cdc25a
|
UTSW |
9 |
109,720,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8790:Cdc25a
|
UTSW |
9 |
109,716,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8807:Cdc25a
|
UTSW |
9 |
109,708,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTAAGCCATCTCTCTAGAC -3'
(R):5'- CCAGTTAATTCATAGGCCTCAGC -3'
Sequencing Primer
(F):5'- GCACATGAAGACAGGTCAGCTTTC -3'
(R):5'- ACAGGATTTCATGTAGCCCAGGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation