Incidental Mutation 'IGL03304:Cpeb4'
| ID |
416340 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpeb4
|
| Ensembl Gene |
ENSMUSG00000020300 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 4 |
| Synonyms |
4930447D24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
IGL03304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
31822211-31885634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31822739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 151
(L151P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020543]
[ENSMUST00000109412]
[ENSMUST00000155278]
|
| AlphaFold |
Q7TN98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020543
AA Change: L151P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: L151P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
314 |
N/A |
INTRINSIC |
|
RRM
|
473 |
545 |
4.3e-5 |
SMART |
|
RRM
|
581 |
654 |
1.11e-2 |
SMART |
|
PDB:2M13|A
|
655 |
720 |
3e-7 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109412
AA Change: L151P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: L151P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
314 |
N/A |
INTRINSIC |
|
RRM
|
456 |
528 |
4.3e-5 |
SMART |
|
RRM
|
564 |
637 |
1.11e-2 |
SMART |
|
PDB:2M13|A
|
638 |
703 |
3e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155278
|
| SMART Domains |
Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
136 |
208 |
4.3e-5 |
SMART |
|
RRM
|
244 |
317 |
1.11e-2 |
SMART |
|
PDB:2M13|A
|
318 |
383 |
2e-7 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show slightly longer dendritic spines but normal hippocampal synaptic plasticity and memory. Homozygotes for a different null allele show neo- and postnatal lethality, erythropoiesis, suckling and mobility defects, and reduced motor axon branching and NMJ formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
A |
T |
9: 106,312,665 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,438 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,469,033 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,099,180 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,961,092 (GRCm39) |
Y40N |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,747,633 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
A |
C |
19: 29,361,502 (GRCm39) |
E270A |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,984,274 (GRCm39) |
V23E |
probably damaging |
Het |
| D3Ertd751e |
G |
A |
3: 41,701,164 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
T |
18: 37,987,626 (GRCm39) |
D1043E |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,841,667 (GRCm39) |
Y534C |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,505,982 (GRCm39) |
N3848I |
probably damaging |
Het |
| Ifi211 |
A |
T |
1: 173,735,273 (GRCm39) |
M52K |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,620,006 (GRCm39) |
I747T |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,395,082 (GRCm39) |
L520R |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,695 (GRCm39) |
M276V |
possibly damaging |
Het |
| Mmp1b |
A |
T |
9: 7,384,701 (GRCm39) |
D282E |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,785,137 (GRCm39) |
V265D |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,570,257 (GRCm39) |
L439* |
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,052,768 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
A |
T |
5: 124,250,886 (GRCm39) |
D24V |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,560 (GRCm39) |
L143P |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,080,105 (GRCm39) |
S182P |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,025 (GRCm39) |
V44A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 82,028,803 (GRCm39) |
W1661R |
probably damaging |
Het |
| Pdzph1 |
G |
A |
17: 59,187,641 (GRCm39) |
T1193I |
probably damaging |
Het |
| Pias3 |
A |
G |
3: 96,607,347 (GRCm39) |
T152A |
possibly damaging |
Het |
| Pla2g5 |
A |
T |
4: 138,531,880 (GRCm39) |
Y41* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,141,986 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
A |
C |
14: 67,253,977 (GRCm39) |
V397G |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,822,848 (GRCm39) |
|
probably benign |
Het |
| Slc35a3 |
A |
G |
3: 116,480,960 (GRCm39) |
L101P |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,876,505 (GRCm39) |
R295Q |
probably damaging |
Het |
| Syce1 |
A |
T |
7: 140,357,623 (GRCm39) |
V314D |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,495 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,796,418 (GRCm39) |
Y580* |
probably null |
Het |
| Ube2m |
T |
A |
7: 12,769,685 (GRCm39) |
|
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,084,625 (GRCm39) |
K123N |
probably damaging |
Het |
|
| Other mutations in Cpeb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Cpeb4
|
APN |
11 |
31,823,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Cpeb4
|
APN |
11 |
31,822,316 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02396:Cpeb4
|
APN |
11 |
31,875,441 (GRCm39) |
missense |
probably benign |
0.38 |
|
FR4304:Cpeb4
|
UTSW |
11 |
31,877,638 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
FR4342:Cpeb4
|
UTSW |
11 |
31,877,638 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1174:Cpeb4
|
UTSW |
11 |
31,870,472 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3969:Cpeb4
|
UTSW |
11 |
31,822,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4005:Cpeb4
|
UTSW |
11 |
31,875,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4017:Cpeb4
|
UTSW |
11 |
31,874,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4539:Cpeb4
|
UTSW |
11 |
31,823,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Cpeb4
|
UTSW |
11 |
31,877,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4978:Cpeb4
|
UTSW |
11 |
31,881,509 (GRCm39) |
missense |
probably null |
0.88 |
|
R5632:Cpeb4
|
UTSW |
11 |
31,839,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Cpeb4
|
UTSW |
11 |
31,822,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Cpeb4
|
UTSW |
11 |
31,870,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6735:Cpeb4
|
UTSW |
11 |
31,874,700 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6955:Cpeb4
|
UTSW |
11 |
31,858,864 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7312:Cpeb4
|
UTSW |
11 |
31,881,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7341:Cpeb4
|
UTSW |
11 |
31,868,807 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7382:Cpeb4
|
UTSW |
11 |
31,822,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7705:Cpeb4
|
UTSW |
11 |
31,822,327 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8387:Cpeb4
|
UTSW |
11 |
31,858,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8815:Cpeb4
|
UTSW |
11 |
31,870,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9098:Cpeb4
|
UTSW |
11 |
31,822,679 (GRCm39) |
missense |
probably benign |
0.19 |
|
RF004:Cpeb4
|
UTSW |
11 |
31,877,634 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation