Incidental Mutation 'IGL02329:Cpeb4'
| ID |
288601 |
| 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: 0.314)
|
| Stock # |
IGL02329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
31822211-31885634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31822316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 10
(V10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020543]
[ENSMUST00000109412]
[ENSMUST00000155278]
|
| AlphaFold |
Q7TN98 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020543
AA Change: V10A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: V10A
| 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 |
possibly damaging
Transcript: ENSMUST00000109412
AA Change: V10A
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: V10A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
T |
C |
19: 6,299,959 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,704,566 (GRCm39) |
T96A |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,601,239 (GRCm39) |
E322G |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,766,568 (GRCm39) |
V391A |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,078,702 (GRCm39) |
M188V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,968,987 (GRCm39) |
I1174V |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,307,942 (GRCm39) |
T206A |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,025,999 (GRCm39) |
S97P |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,261,404 (GRCm39) |
L185P |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,923 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,409,088 (GRCm39) |
I742F |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,720,181 (GRCm39) |
Y65C |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,496,302 (GRCm39) |
G355D |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 27,363,115 (GRCm39) |
I800N |
probably damaging |
Het |
| Gss |
C |
T |
2: 155,409,773 (GRCm39) |
R221H |
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,359 (GRCm39) |
V273D |
probably damaging |
Het |
| Large1 |
C |
A |
8: 73,774,945 (GRCm39) |
W255L |
possibly damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,288 (GRCm39) |
K71E |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,619,396 (GRCm39) |
N1760D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,166,781 (GRCm39) |
N24K |
probably damaging |
Het |
| Nphp3 |
A |
C |
9: 103,903,167 (GRCm39) |
S715R |
probably benign |
Het |
| Papolg |
T |
G |
11: 23,841,869 (GRCm39) |
H18P |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,308,098 (GRCm39) |
H667R |
possibly damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,249,943 (GRCm39) |
S103P |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,634,310 (GRCm39) |
|
probably benign |
Het |
| Spmip3 |
A |
T |
1: 177,570,867 (GRCm39) |
Q67L |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,596,924 (GRCm39) |
H301N |
probably benign |
Het |
| Trcg1 |
A |
T |
9: 57,147,676 (GRCm39) |
I11F |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,581 (GRCm39) |
K1482R |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,295,921 (GRCm39) |
G116V |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,474,224 (GRCm39) |
C343R |
possibly 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 |
|
IGL02396:Cpeb4
|
APN |
11 |
31,875,441 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03304:Cpeb4
|
APN |
11 |
31,822,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation