Incidental Mutation 'IGL02396:Cpeb4'
ID |
294335 |
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 # |
IGL02396
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
31822211-31885634 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31875441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 547
(S547T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020543]
[ENSMUST00000109412]
[ENSMUST00000155278]
|
AlphaFold |
Q7TN98 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020543
AA Change: S547T
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000020543 Gene: ENSMUSG00000020300 AA Change: S547T
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: S530T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000105039 Gene: ENSMUSG00000020300 AA Change: S530T
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
AA Change: S210T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000116753 Gene: ENSMUSG00000020300 AA Change: S210T
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
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 |
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 |