Incidental Mutation 'R4017:Cpeb4'
| ID |
311994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb4
|
| Ensembl Gene |
ENSMUSG00000020300 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 4 |
| Synonyms |
4930447D24Rik |
| MMRRC Submission |
041611-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R4017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
31822211-31885634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31874671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 484
(D484G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020543]
[ENSMUST00000109412]
[ENSMUST00000155278]
|
| AlphaFold |
Q7TN98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020543
AA Change: D501G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020543
Gene: ENSMUSG00000020300
AA Change: D501G
| 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: D484G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105039
Gene: ENSMUSG00000020300
AA Change: D484G
| 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 damaging
Transcript: ENSMUST00000155278
AA Change: D164G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116753
Gene: ENSMUSG00000020300
AA Change: D164G
| 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 |
|
| Meta Mutation Damage Score |
0.9292 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
T |
19: 4,917,574 (GRCm39) |
T423N |
possibly damaging |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,896,915 (GRCm39) |
F121L |
probably benign |
Het |
| BC004004 |
T |
C |
17: 29,517,706 (GRCm39) |
S307P |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,405,900 (GRCm39) |
Y553C |
probably damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,609,624 (GRCm39) |
R2802I |
probably damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,776 (GRCm39) |
M209K |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,813 (GRCm39) |
K1071E |
probably benign |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Klhl10 |
G |
A |
11: 100,336,500 (GRCm39) |
M162I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,363,539 (GRCm39) |
E828G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,023,448 (GRCm39) |
F643S |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,948,333 (GRCm39) |
D182V |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,846 (GRCm39) |
S272G |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,948,791 (GRCm39) |
V69A |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,636,743 (GRCm39) |
C688F |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf157 |
A |
T |
11: 116,250,067 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
T |
4: 86,476,233 (GRCm39) |
I7N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,329 (GRCm39) |
I214N |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Suz12 |
G |
T |
11: 79,904,292 (GRCm39) |
V211F |
probably damaging |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Zfp940 |
T |
C |
7: 29,545,359 (GRCm39) |
I183V |
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 |
|
R4005:Cpeb4
|
UTSW |
11 |
31,875,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GGCACATACTTGTTTGAGTGTC -3'
(R):5'- GGTAGCATCTGGAAACATCTTGTG -3'
Sequencing Primer
(F):5'- GTGTCCACATTATTCTAGCTACAGG -3'
(R):5'- ACGCTCCAAATTAGACAATC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation