Incidental Mutation 'R4005:Cpeb4'
| ID |
311438 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
31822211-31885634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31875390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 530
(A530T)
|
| 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: A530T
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: A530T
| 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 benign
Transcript: ENSMUST00000109412
AA Change: A513T
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: A513T
| 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 |
possibly damaging
Transcript: ENSMUST00000155278
AA Change: A193T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300
AA Change: A193T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,868 (GRCm39) |
T348A |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Ddx28 |
C |
G |
8: 106,737,560 (GRCm39) |
R166P |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mcm10 |
G |
T |
2: 5,005,814 (GRCm39) |
S440R |
probably damaging |
Het |
| Mtss2 |
CG |
CGG |
8: 111,465,673 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,245,774 (GRCm39) |
D490E |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGAGAGTATGTTTCTGTGACC -3'
(R):5'- ATGTTTTCTAAAAGCCAGAGGGG -3'
Sequencing Primer
(F):5'- CAAATGAGGTTTTGATGTGTTCAGAC -3'
(R):5'- GGGTTGGTATACCTTGTATTCATG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation