Incidental Mutation 'R7687:Cdc14b'
| ID |
593169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc14b
|
| Ensembl Gene |
ENSMUSG00000033102 |
| Gene Name |
CDC14 cell division cycle 14B |
| Synonyms |
A530086E13Rik, 2810432N10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R7687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
64337082-64423104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64357007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 419
(D419E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039318]
[ENSMUST00000109769]
[ENSMUST00000109770]
[ENSMUST00000221139]
[ENSMUST00000221634]
[ENSMUST00000222766]
|
| AlphaFold |
Q6PFY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039318
AA Change: D419E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046003
Gene: ENSMUSG00000033102
AA Change: D419E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
34 |
N/A |
INTRINSIC |
|
Pfam:DSPn
|
51 |
189 |
6.1e-57 |
PFAM |
|
Pfam:DSPc
|
240 |
365 |
9.2e-17 |
PFAM |
|
Pfam:Y_phosphatase
|
244 |
365 |
1e-7 |
PFAM |
|
transmembrane domain
|
445 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109769
AA Change: D382E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000105391
Gene: ENSMUSG00000033102
AA Change: D382E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPn
|
12 |
152 |
2.5e-58 |
PFAM |
|
Pfam:DSPc
|
203 |
328 |
8e-17 |
PFAM |
|
Pfam:Y_phosphatase
|
206 |
328 |
8.9e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109770
AA Change: D419E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105392
Gene: ENSMUSG00000033102
AA Change: D419E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
34 |
N/A |
INTRINSIC |
|
Pfam:DSPn
|
51 |
189 |
3.4e-57 |
PFAM |
|
Pfam:DSPc
|
240 |
365 |
2.8e-16 |
PFAM |
|
Pfam:Y_phosphatase
|
252 |
364 |
2.4e-7 |
PFAM |
|
transmembrane domain
|
445 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221139
AA Change: D419E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221217
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221634
AA Change: D419E
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222713
AA Change: D78E
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222766
AA Change: D23E
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature aging, including premature cataracts and kyphosis; reduced fertility, particularly in female mice; and impaired contextual conditioning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,341 (GRCm39) |
K2383R |
probably benign |
Het |
| Acly |
C |
T |
11: 100,395,680 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,468,311 (GRCm39) |
I276F |
possibly damaging |
Het |
| Celsr2 |
G |
T |
3: 108,305,085 (GRCm39) |
P2165T |
probably benign |
Het |
| Clk4 |
A |
G |
11: 51,172,225 (GRCm39) |
D476G |
probably benign |
Het |
| Dera |
A |
G |
6: 137,813,878 (GRCm39) |
T10A |
|
Het |
| Dip2c |
A |
T |
13: 9,654,617 (GRCm39) |
T742S |
probably benign |
Het |
| Dohh |
C |
A |
10: 81,223,640 (GRCm39) |
A231E |
probably benign |
Het |
| Dot1l |
T |
G |
10: 80,625,202 (GRCm39) |
S1150A |
possibly damaging |
Het |
| Eea1 |
T |
A |
10: 95,862,460 (GRCm39) |
I794N |
probably benign |
Het |
| En2 |
T |
C |
5: 28,375,287 (GRCm39) |
S277P |
probably damaging |
Het |
| Erich1 |
A |
G |
8: 14,080,691 (GRCm39) |
L276P |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,924,224 (GRCm38) |
N1779S |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,254,979 (GRCm39) |
T186S |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,348,257 (GRCm39) |
R347* |
probably null |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,883 (GRCm39) |
I17V |
not run |
Het |
| Ipo13 |
G |
A |
4: 117,769,088 (GRCm39) |
P235S |
probably benign |
Het |
| Itga2 |
C |
A |
13: 115,002,796 (GRCm39) |
G565C |
probably damaging |
Het |
| Kcnc4 |
CCCGCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGCCGCCGCCGC |
3: 107,365,925 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,401,355 (GRCm39) |
I440T |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,576,476 (GRCm39) |
K779N |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,760,001 (GRCm39) |
D1086N |
unknown |
Het |
| Kntc1 |
A |
G |
5: 123,897,152 (GRCm39) |
I172V |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,451,003 (GRCm39) |
E215G |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,943,607 (GRCm39) |
M417K |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,962,157 (GRCm39) |
V185A |
probably damaging |
Het |
| Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,857,227 (GRCm39) |
P980S |
probably benign |
Het |
| Or2aj5 |
T |
C |
16: 19,424,485 (GRCm39) |
N310S |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,355,506 (GRCm39) |
D675G |
probably damaging |
Het |
| Pdlim5 |
A |
G |
3: 141,983,608 (GRCm39) |
S382P |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,804,390 (GRCm39) |
I2184F |
|
Het |
| Plau |
A |
G |
14: 20,889,866 (GRCm39) |
Y237C |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,915,806 (GRCm39) |
T586A |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,551,901 (GRCm39) |
I923S |
possibly damaging |
Het |
| Rbfox2 |
C |
T |
15: 77,190,694 (GRCm39) |
G17D |
unknown |
Het |
| Sema3b |
T |
C |
9: 107,481,013 (GRCm39) |
D108G |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,485,331 (GRCm39) |
I297T |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,128 (GRCm39) |
F261L |
probably benign |
Het |
| Tcp10a |
T |
A |
17: 7,612,507 (GRCm39) |
V433D |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,574,526 (GRCm39) |
Y109* |
probably null |
Het |
| Tmem79 |
A |
G |
3: 88,239,888 (GRCm39) |
V274A |
probably damaging |
Het |
| Tnfrsf23 |
G |
A |
7: 143,235,199 (GRCm39) |
S55L |
probably benign |
Het |
| Ubd |
T |
C |
17: 37,504,865 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
A |
5: 148,442,985 (GRCm39) |
R105L |
possibly damaging |
Het |
| Ubl7 |
A |
T |
9: 57,821,867 (GRCm39) |
D72V |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,076 (GRCm39) |
S81P |
probably damaging |
Het |
| Wtip |
T |
C |
7: 33,816,044 (GRCm39) |
Y344C |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zkscan2 |
A |
C |
7: 123,099,085 (GRCm39) |
S36A |
probably benign |
Het |
|
| Other mutations in Cdc14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Cdc14b
|
APN |
13 |
64,363,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00816:Cdc14b
|
APN |
13 |
64,353,217 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02569:Cdc14b
|
APN |
13 |
64,373,428 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02634:Cdc14b
|
APN |
13 |
64,364,117 (GRCm39) |
splice site |
probably benign |
|
|
IGL02897:Cdc14b
|
APN |
13 |
64,395,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0390:Cdc14b
|
UTSW |
13 |
64,358,006 (GRCm39) |
unclassified |
probably benign |
|
|
R0542:Cdc14b
|
UTSW |
13 |
64,391,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1022:Cdc14b
|
UTSW |
13 |
64,363,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Cdc14b
|
UTSW |
13 |
64,363,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Cdc14b
|
UTSW |
13 |
64,373,416 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1945:Cdc14b
|
UTSW |
13 |
64,367,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Cdc14b
|
UTSW |
13 |
64,363,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Cdc14b
|
UTSW |
13 |
64,394,422 (GRCm39) |
splice site |
probably benign |
|
|
R4359:Cdc14b
|
UTSW |
13 |
64,396,225 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4598:Cdc14b
|
UTSW |
13 |
64,395,088 (GRCm39) |
missense |
probably benign |
|
|
R4716:Cdc14b
|
UTSW |
13 |
64,357,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Cdc14b
|
UTSW |
13 |
64,353,338 (GRCm39) |
intron |
probably benign |
|
|
R6219:Cdc14b
|
UTSW |
13 |
64,353,338 (GRCm39) |
intron |
probably benign |
|
|
R6361:Cdc14b
|
UTSW |
13 |
64,364,023 (GRCm39) |
splice site |
probably null |
|
|
R6480:Cdc14b
|
UTSW |
13 |
64,373,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6565:Cdc14b
|
UTSW |
13 |
64,373,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6692:Cdc14b
|
UTSW |
13 |
64,363,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7204:Cdc14b
|
UTSW |
13 |
64,358,012 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7327:Cdc14b
|
UTSW |
13 |
64,373,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Cdc14b
|
UTSW |
13 |
64,344,489 (GRCm39) |
nonsense |
probably null |
|
|
R7639:Cdc14b
|
UTSW |
13 |
64,353,143 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7949:Cdc14b
|
UTSW |
13 |
64,338,212 (GRCm39) |
splice site |
probably null |
|
|
R8170:Cdc14b
|
UTSW |
13 |
64,363,549 (GRCm39) |
splice site |
probably null |
|
|
R9047:Cdc14b
|
UTSW |
13 |
64,368,758 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Cdc14b
|
UTSW |
13 |
64,422,483 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGAGCACCTCTAGATTTTAAAC -3'
(R):5'- AAACTGCCGCTTAGCATTCAG -3'
Sequencing Primer
(F):5'- CACAAGTGATCACTACAAAGTAATGG -3'
(R):5'- CTGCCGCTTAGCATTCAGAAGAAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation