Incidental Mutation 'IGL00870:Cpeb3'
ID |
9868 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpeb3
|
Ensembl Gene |
ENSMUSG00000039652 |
Gene Name |
cytoplasmic polyadenylation element binding protein 3 |
Synonyms |
4831444O18Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.409)
|
Stock # |
IGL00870
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
36998691-37186000 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37031695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 569
(I569N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079754]
[ENSMUST00000123727]
[ENSMUST00000124158]
[ENSMUST00000126188]
[ENSMUST00000126781]
[ENSMUST00000132580]
[ENSMUST00000136286]
[ENSMUST00000154376]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079754
AA Change: I569N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078690 Gene: ENSMUSG00000039652 AA Change: I569N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
RRM
|
460 |
532 |
2.01e-5 |
SMART |
RRM
|
568 |
641 |
1e-2 |
SMART |
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123727
AA Change: I538N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121987 Gene: ENSMUSG00000039652 AA Change: I538N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
RRM
|
429 |
501 |
2.01e-5 |
SMART |
RRM
|
537 |
610 |
1e-2 |
SMART |
PDB:2M13|A
|
611 |
676 |
1e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124158
AA Change: I268N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115656 Gene: ENSMUSG00000039652 AA Change: I268N
Domain | Start | End | E-Value | Type |
RRM
|
159 |
231 |
2.01e-5 |
SMART |
RRM
|
267 |
340 |
1e-2 |
SMART |
PDB:2M13|A
|
341 |
406 |
6e-7 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126188
AA Change: I546N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120416 Gene: ENSMUSG00000039652 AA Change: I546N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
RRM
|
437 |
509 |
2.01e-5 |
SMART |
RRM
|
545 |
618 |
1e-2 |
SMART |
PDB:2M13|A
|
619 |
684 |
1e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126781
AA Change: I546N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122442 Gene: ENSMUSG00000039652 AA Change: I546N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
RRM
|
437 |
509 |
8.3e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132580
AA Change: I569N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118723 Gene: ENSMUSG00000039652 AA Change: I569N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
RRM
|
460 |
532 |
2.01e-5 |
SMART |
RRM
|
568 |
641 |
1e-2 |
SMART |
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136286
AA Change: I552N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116309 Gene: ENSMUSG00000039652 AA Change: I552N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
RRM
|
443 |
515 |
2.01e-5 |
SMART |
RRM
|
551 |
624 |
1e-2 |
SMART |
PDB:2M13|A
|
625 |
690 |
1e-6 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154376
AA Change: I569N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116172 Gene: ENSMUSG00000039652 AA Change: I569N
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
RRM
|
460 |
532 |
2.01e-5 |
SMART |
RRM
|
568 |
641 |
1e-2 |
SMART |
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
Asb5 |
T |
C |
8: 55,036,695 (GRCm39) |
|
probably null |
Het |
Cpsf7 |
T |
C |
19: 10,517,014 (GRCm39) |
|
probably null |
Het |
Dlat |
A |
G |
9: 50,562,169 (GRCm39) |
L285P |
probably damaging |
Het |
Dytn |
T |
C |
1: 63,716,272 (GRCm39) |
|
probably benign |
Het |
Ears2 |
A |
T |
7: 121,654,899 (GRCm39) |
L123Q |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,519,983 (GRCm39) |
V212A |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,764,492 (GRCm39) |
Y358H |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,097,437 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Krtap20-2 |
G |
A |
16: 89,002,875 (GRCm39) |
G25D |
unknown |
Het |
Lrif1 |
T |
C |
3: 106,641,957 (GRCm39) |
|
probably null |
Het |
Naip2 |
A |
G |
13: 100,288,568 (GRCm39) |
|
probably benign |
Het |
Or8b37 |
A |
T |
9: 37,959,036 (GRCm39) |
I173F |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,131,300 (GRCm39) |
L396Q |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,589,997 (GRCm39) |
R766W |
unknown |
Het |
Pkhd1 |
T |
A |
1: 20,641,614 (GRCm39) |
I275F |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,301 (GRCm39) |
F357S |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,391 (GRCm39) |
V327A |
probably damaging |
Het |
Serpinb2 |
A |
G |
1: 107,450,800 (GRCm39) |
I181V |
probably damaging |
Het |
Smad5 |
A |
G |
13: 56,871,480 (GRCm39) |
D25G |
probably benign |
Het |
Strada |
A |
G |
11: 106,062,083 (GRCm39) |
L82P |
probably damaging |
Het |
Tek |
T |
A |
4: 94,761,318 (GRCm39) |
Y1079* |
probably null |
Het |
Tenm3 |
T |
C |
8: 48,870,167 (GRCm39) |
T209A |
probably benign |
Het |
Tnks1bp1 |
C |
T |
2: 84,892,580 (GRCm39) |
Q836* |
probably null |
Het |
Toporsl |
T |
C |
4: 52,610,172 (GRCm39) |
S22P |
probably benign |
Het |
Ttc17 |
T |
C |
2: 94,202,078 (GRCm39) |
|
probably null |
Het |
Ttc39a |
A |
G |
4: 109,299,542 (GRCm39) |
|
probably benign |
Het |
Vangl1 |
T |
C |
3: 102,096,756 (GRCm39) |
D60G |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,098 (GRCm39) |
M86L |
probably benign |
Het |
Vmn1r220 |
C |
T |
13: 23,368,647 (GRCm39) |
M16I |
probably null |
Het |
|
Other mutations in Cpeb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01402:Cpeb3
|
APN |
19 |
37,065,948 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01404:Cpeb3
|
APN |
19 |
37,065,948 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01702:Cpeb3
|
APN |
19 |
37,103,782 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01811:Cpeb3
|
APN |
19 |
37,022,008 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03036:Cpeb3
|
APN |
19 |
37,002,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Cpeb3
|
UTSW |
19 |
37,151,435 (GRCm39) |
missense |
probably benign |
0.02 |
R1463:Cpeb3
|
UTSW |
19 |
37,116,500 (GRCm39) |
missense |
probably benign |
0.08 |
R1572:Cpeb3
|
UTSW |
19 |
37,116,482 (GRCm39) |
missense |
probably benign |
0.38 |
R1914:Cpeb3
|
UTSW |
19 |
37,031,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R1915:Cpeb3
|
UTSW |
19 |
37,031,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R2031:Cpeb3
|
UTSW |
19 |
37,022,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4296:Cpeb3
|
UTSW |
19 |
37,151,389 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4528:Cpeb3
|
UTSW |
19 |
37,116,488 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4607:Cpeb3
|
UTSW |
19 |
37,152,239 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4909:Cpeb3
|
UTSW |
19 |
37,151,633 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4909:Cpeb3
|
UTSW |
19 |
37,152,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R5240:Cpeb3
|
UTSW |
19 |
37,151,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R5985:Cpeb3
|
UTSW |
19 |
37,064,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R6179:Cpeb3
|
UTSW |
19 |
37,065,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R6309:Cpeb3
|
UTSW |
19 |
37,022,089 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6768:Cpeb3
|
UTSW |
19 |
37,002,432 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6787:Cpeb3
|
UTSW |
19 |
37,022,089 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7102:Cpeb3
|
UTSW |
19 |
37,152,119 (GRCm39) |
missense |
probably benign |
|
R7194:Cpeb3
|
UTSW |
19 |
37,152,152 (GRCm39) |
missense |
probably benign |
|
R7422:Cpeb3
|
UTSW |
19 |
37,151,900 (GRCm39) |
missense |
probably benign |
0.13 |
R7594:Cpeb3
|
UTSW |
19 |
37,151,551 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7630:Cpeb3
|
UTSW |
19 |
37,031,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R8392:Cpeb3
|
UTSW |
19 |
37,152,291 (GRCm39) |
small deletion |
probably benign |
|
R8430:Cpeb3
|
UTSW |
19 |
37,002,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R8947:Cpeb3
|
UTSW |
19 |
37,152,366 (GRCm39) |
missense |
probably damaging |
0.98 |
R9301:Cpeb3
|
UTSW |
19 |
37,151,473 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9748:Cpeb3
|
UTSW |
19 |
37,151,926 (GRCm39) |
missense |
probably benign |
0.33 |
|
Posted On |
2012-12-06 |