Incidental Mutation 'IGL01811:Cpeb3'
| ID |
154272 |
| 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 # |
IGL01811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
36998691-37186000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37022008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 613
(R613C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079754]
[ENSMUST00000123727]
[ENSMUST00000124158]
[ENSMUST00000126188]
[ENSMUST00000132580]
[ENSMUST00000136286]
[ENSMUST00000154376]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079754
AA Change: R613C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: R613C
| 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: R582C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: R582C
| 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: R312C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: R312C
| 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: R590C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: R590C
| 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: ENSMUST00000132580
AA Change: R613C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: R613C
| 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: R596C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: R596C
| 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: R613C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: R613C
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
G |
A |
13: 95,488,080 (GRCm39) |
T689I |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,210,600 (GRCm39) |
V343A |
probably benign |
Het |
| Ccbe1 |
A |
G |
18: 66,199,798 (GRCm39) |
|
probably null |
Het |
| Cd1d1 |
T |
C |
3: 86,903,895 (GRCm39) |
I204V |
possibly damaging |
Het |
| Dock9 |
A |
T |
14: 121,796,440 (GRCm39) |
F1821I |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,203,173 (GRCm39) |
Q694L |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,762,462 (GRCm39) |
S802P |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,707,803 (GRCm39) |
C397R |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,583,823 (GRCm39) |
V63D |
probably damaging |
Het |
| Or4c101 |
C |
T |
2: 88,390,409 (GRCm39) |
L199F |
probably benign |
Het |
| Pycr1 |
T |
A |
11: 120,532,092 (GRCm39) |
S225C |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,960,307 (GRCm39) |
C187S |
probably damaging |
Het |
| Tnfrsf21 |
A |
C |
17: 43,348,504 (GRCm39) |
I39L |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,934,705 (GRCm39) |
D972G |
probably damaging |
Het |
|
| Other mutations in Cpeb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Cpeb3
|
APN |
19 |
37,031,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation