Incidental Mutation 'IGL02329:Cpeb4'
ID288601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpeb4
Ensembl Gene ENSMUSG00000020300
Gene Namecytoplasmic polyadenylation element binding protein 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.478) question?
Stock #IGL02329
Quality Score
Status
Chromosome11
Chromosomal Location31872211-31935634 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31872316 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Ccdc169 A G 3: 55,171,281 M188V probably benign Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Drc3 T C 11: 60,370,578 L185P probably damaging Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
H2-M10.4 A T 17: 36,460,467 V273D probably damaging Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Meig1 T C 2: 3,409,251 K71E probably damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Tiam1 G T 16: 89,800,036 H301N probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R possibly damaging Het
Other mutations in Cpeb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Cpeb4 APN 11 31873204 missense probably damaging 1.00
IGL02396:Cpeb4 APN 11 31925441 missense probably benign 0.38
IGL03304:Cpeb4 APN 11 31872739 missense probably damaging 1.00
FR4304:Cpeb4 UTSW 11 31927638 critical splice acceptor site probably benign
FR4342:Cpeb4 UTSW 11 31927638 critical splice acceptor site probably benign
R1174:Cpeb4 UTSW 11 31920472 missense probably damaging 0.96
R3969:Cpeb4 UTSW 11 31872811 missense possibly damaging 0.95
R4005:Cpeb4 UTSW 11 31925390 missense probably damaging 0.96
R4017:Cpeb4 UTSW 11 31924671 missense probably damaging 1.00
R4539:Cpeb4 UTSW 11 31873206 missense probably damaging 1.00
R4580:Cpeb4 UTSW 11 31927757 critical splice donor site probably null
R4978:Cpeb4 UTSW 11 31931509 missense probably null 0.88
R5632:Cpeb4 UTSW 11 31889877 missense probably damaging 1.00
R5809:Cpeb4 UTSW 11 31872801 missense probably damaging 1.00
R6164:Cpeb4 UTSW 11 31920584 critical splice donor site probably null
R6735:Cpeb4 UTSW 11 31924700 missense probably benign 0.19
R6955:Cpeb4 UTSW 11 31908864 missense possibly damaging 0.90
R7312:Cpeb4 UTSW 11 31931417 missense probably damaging 0.98
R7341:Cpeb4 UTSW 11 31918807 missense possibly damaging 0.86
R7382:Cpeb4 UTSW 11 31872828 missense probably damaging 0.97
R7705:Cpeb4 UTSW 11 31872327 missense probably damaging 0.97
RF004:Cpeb4 UTSW 11 31927634 critical splice acceptor site probably benign
Posted On2015-04-16