Incidental Mutation 'R8049:Cdc14a'
| ID |
618919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc14a
|
| Ensembl Gene |
ENSMUSG00000033502 |
| Gene Name |
CDC14 cell division cycle 14A |
| Synonyms |
A830059A17Rik, CDC14a1, CDC14A2, Cdc14 |
| MMRRC Submission |
067486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R8049 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116066202-116222390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116087577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 527
(N527S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090464]
[ENSMUST00000106491]
|
| AlphaFold |
Q6GQT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090464
AA Change: N527S
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000087950
Gene: ENSMUSG00000033502
AA Change: N527S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPn
|
13 |
153 |
1.6e-66 |
PFAM |
|
Pfam:Y_phosphatase
|
210 |
324 |
1.1e-7 |
PFAM |
|
Pfam:DSPc
|
214 |
328 |
1.8e-14 |
PFAM |
|
low complexity region
|
539 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106491
AA Change: N478S
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102100
Gene: ENSMUSG00000033502
AA Change: N478S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPn
|
12 |
121 |
9.5e-44 |
PFAM |
|
Pfam:Y_phosphatase
|
160 |
274 |
6.4e-8 |
PFAM |
|
Pfam:DSPc
|
160 |
280 |
2.8e-14 |
PFAM |
|
low complexity region
|
490 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
546 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (55/55) |
| 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. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,992 (GRCm39) |
T69S |
probably benign |
Het |
| 5730455P16Rik |
A |
G |
11: 80,268,798 (GRCm39) |
S4P |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,241,867 (GRCm39) |
N1243K |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,303,943 (GRCm39) |
S824T |
probably benign |
Het |
| Armh4 |
G |
T |
14: 50,010,993 (GRCm39) |
A238E |
probably damaging |
Het |
| C3ar1 |
T |
A |
6: 122,827,059 (GRCm39) |
Y386F |
probably damaging |
Het |
| Cfap69 |
A |
T |
5: 5,669,085 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,804,631 (GRCm39) |
P2279S |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,683,252 (GRCm39) |
G918D |
probably benign |
Het |
| Dcn |
C |
A |
10: 97,349,479 (GRCm39) |
N250K |
probably damaging |
Het |
| Dctn5 |
G |
A |
7: 121,732,466 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
T |
C |
5: 124,694,821 (GRCm39) |
V83A |
probably damaging |
Het |
| Dnaja2 |
T |
A |
8: 86,265,876 (GRCm39) |
H403L |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,303,982 (GRCm39) |
I143V |
probably benign |
Het |
| Efna5 |
G |
T |
17: 62,957,977 (GRCm39) |
T93K |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,843,201 (GRCm39) |
V171A |
possibly damaging |
Het |
| Esyt1 |
C |
G |
10: 128,347,955 (GRCm39) |
V942L |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam78a |
C |
A |
2: 31,973,035 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,892 (GRCm39) |
Y61H |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,105,211 (GRCm39) |
M318K |
probably damaging |
Het |
| Gm14295 |
A |
G |
2: 176,500,871 (GRCm39) |
I120M |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,311 (GRCm39) |
Y86N |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr55 |
T |
C |
1: 85,869,419 (GRCm39) |
D54G |
probably benign |
Het |
| Gtf2b |
T |
G |
3: 142,483,975 (GRCm39) |
S50A |
probably damaging |
Het |
| Ifit3 |
A |
T |
19: 34,565,480 (GRCm39) |
E342V |
possibly damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,011,609 (GRCm39) |
I798N |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,202 (GRCm39) |
Y160* |
probably null |
Het |
| Lpin1 |
T |
C |
12: 16,613,685 (GRCm39) |
D494G |
|
Het |
| Lsm12 |
T |
C |
11: 102,056,235 (GRCm39) |
E149G |
possibly damaging |
Het |
| Mtfr2 |
T |
C |
10: 20,228,603 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,414 (GRCm39) |
M231T |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,800,873 (GRCm39) |
V203E |
probably benign |
Het |
| Or1e27-ps1 |
G |
T |
11: 73,555,988 (GRCm39) |
K184N |
possibly damaging |
Het |
| Or52h2 |
C |
A |
7: 103,839,017 (GRCm39) |
L132F |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,346 (GRCm39) |
T196S |
probably damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,469 (GRCm39) |
Y152* |
probably null |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde6b |
C |
T |
5: 108,573,118 (GRCm39) |
P496L |
probably benign |
Het |
| Plppr1 |
A |
T |
4: 49,300,942 (GRCm39) |
M92L |
probably benign |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Ptprk |
C |
G |
10: 28,259,565 (GRCm39) |
S335C |
possibly damaging |
Het |
| Rars2 |
T |
A |
4: 34,650,217 (GRCm39) |
M334K |
probably benign |
Het |
| Rasl10a |
A |
T |
11: 5,009,823 (GRCm39) |
I124F |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,183,374 (GRCm39) |
V1007E |
possibly damaging |
Het |
| Rnf122 |
T |
A |
8: 31,618,608 (GRCm39) |
C119S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,584,149 (GRCm39) |
I1489F |
probably damaging |
Het |
| Setd6 |
C |
A |
8: 96,443,316 (GRCm39) |
S186R |
probably benign |
Het |
| Tex19.1 |
A |
G |
11: 121,038,148 (GRCm39) |
T169A |
probably benign |
Het |
| Th |
G |
A |
7: 142,447,860 (GRCm39) |
P408S |
probably damaging |
Het |
| Trappc13 |
T |
C |
13: 104,281,052 (GRCm39) |
M337V |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,609,762 (GRCm39) |
K65* |
probably null |
Het |
| Ubxn4 |
T |
C |
1: 128,183,933 (GRCm39) |
S98P |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,005,960 (GRCm39) |
S601G |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,946,555 (GRCm39) |
L90H |
probably damaging |
Het |
|
| Other mutations in Cdc14a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Cdc14a
|
APN |
3 |
116,088,493 (GRCm39) |
nonsense |
probably null |
|
|
IGL01062:Cdc14a
|
APN |
3 |
116,068,361 (GRCm39) |
splice site |
probably benign |
|
|
IGL01584:Cdc14a
|
APN |
3 |
116,186,474 (GRCm39) |
nonsense |
probably null |
|
|
IGL03084:Cdc14a
|
APN |
3 |
116,142,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03237:Cdc14a
|
APN |
3 |
116,198,275 (GRCm39) |
intron |
probably benign |
|
|
IGL03296:Cdc14a
|
APN |
3 |
116,090,807 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4131001:Cdc14a
|
UTSW |
3 |
116,122,310 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0707:Cdc14a
|
UTSW |
3 |
116,087,362 (GRCm39) |
splice site |
probably benign |
|
|
R0782:Cdc14a
|
UTSW |
3 |
116,115,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Cdc14a
|
UTSW |
3 |
116,122,171 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1363:Cdc14a
|
UTSW |
3 |
116,087,509 (GRCm39) |
small deletion |
probably benign |
|
|
R1507:Cdc14a
|
UTSW |
3 |
116,087,646 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1545:Cdc14a
|
UTSW |
3 |
116,087,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1795:Cdc14a
|
UTSW |
3 |
116,092,122 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1797:Cdc14a
|
UTSW |
3 |
116,115,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Cdc14a
|
UTSW |
3 |
116,216,296 (GRCm39) |
nonsense |
probably null |
|
|
R4229:Cdc14a
|
UTSW |
3 |
116,087,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4655:Cdc14a
|
UTSW |
3 |
116,122,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Cdc14a
|
UTSW |
3 |
116,088,399 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4870:Cdc14a
|
UTSW |
3 |
116,217,109 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4980:Cdc14a
|
UTSW |
3 |
116,186,506 (GRCm39) |
nonsense |
probably null |
|
|
R6228:Cdc14a
|
UTSW |
3 |
116,144,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Cdc14a
|
UTSW |
3 |
116,101,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6402:Cdc14a
|
UTSW |
3 |
116,142,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Cdc14a
|
UTSW |
3 |
116,090,807 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6852:Cdc14a
|
UTSW |
3 |
116,122,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6996:Cdc14a
|
UTSW |
3 |
116,122,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Cdc14a
|
UTSW |
3 |
116,087,676 (GRCm39) |
missense |
probably benign |
|
|
R7783:Cdc14a
|
UTSW |
3 |
116,198,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Cdc14a
|
UTSW |
3 |
116,088,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7991:Cdc14a
|
UTSW |
3 |
116,101,887 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9163:Cdc14a
|
UTSW |
3 |
116,122,213 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9434:Cdc14a
|
UTSW |
3 |
116,217,092 (GRCm39) |
missense |
probably benign |
|
|
R9526:Cdc14a
|
UTSW |
3 |
116,087,509 (GRCm39) |
small deletion |
probably benign |
|
|
R9662:Cdc14a
|
UTSW |
3 |
116,088,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9781:Cdc14a
|
UTSW |
3 |
116,122,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGCTCAGGAATCTCACTG -3'
(R):5'- CAGATAGGAGTATGCATTGTTGTC -3'
Sequencing Primer
(F):5'- GCTCAGGAATCTCACTGAGGAG -3'
(R):5'- CACCTGTGTTTTACCCTCTCCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation