Incidental Mutation 'IGL01598:Cpeb1'
ID91755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpeb1
Ensembl Gene ENSMUSG00000025586
Gene Namecytoplasmic polyadenylation element binding protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01598
Quality Score
Status
Chromosome7
Chromosomal Location81347026-81455465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81361801 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 131 (M131V)
Ref Sequence ENSEMBL: ENSMUSP00000137079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]
Predicted Effect probably benign
Transcript: ENSMUST00000098331
AA Change: M130V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: M130V

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
low complexity region 176 195 N/A INTRINSIC
RRM 311 386 2.6e-4 SMART
RRM_2 430 506 2.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130310
AA Change: M125V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: M125V

DomainStartEndE-ValueType
low complexity region 107 121 N/A INTRINSIC
low complexity region 171 190 N/A INTRINSIC
RRM 306 376 1.35e-1 SMART
RRM 420 496 6.36e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153419
Predicted Effect probably benign
Transcript: ENSMUST00000178892
AA Change: M131V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: M131V

DomainStartEndE-ValueType
Pfam:CEBP1_N 1 307 2.5e-153 PFAM
RRM 312 387 6.25e-2 SMART
RRM 431 507 6.36e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele are viable and overtly normal but display a developmental arrest of both female and male germ cells at the pachytene stage, defective synaptonemal complex formation, and impaired neuronal synaptic plasticity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,478,929 noncoding transcript Het
Apc2 T A 10: 80,313,048 L1283Q probably damaging Het
Apol6 G A 15: 77,050,716 A62T probably damaging Het
AU018091 A T 7: 3,162,270 I204N possibly damaging Het
B4galnt4 G T 7: 141,070,515 R765L probably benign Het
Brca1 T C 11: 101,524,330 T993A probably benign Het
Cadps C T 14: 12,522,202 probably null Het
Ccdc177 A G 12: 80,758,745 S252P unknown Het
Cdc73 A G 1: 143,699,279 S59P probably damaging Het
Cep63 G T 9: 102,590,458 Q570K possibly damaging Het
Ces1c A T 8: 93,118,413 I120K probably benign Het
Dync1h1 G A 12: 110,658,128 V3701I probably damaging Het
Fxr1 T C 3: 34,064,232 S535P possibly damaging Het
Gldc A T 19: 30,133,756 V540D probably damaging Het
Iqcf6 A G 9: 106,627,508 T124A probably benign Het
Itih4 A G 14: 30,887,817 I35V possibly damaging Het
Kmt2c T C 5: 25,273,666 *1525W probably null Het
Kmt2c A T 5: 25,354,771 V963E probably damaging Het
Lmnb2 T C 10: 80,907,165 S202G probably benign Het
Med23 T G 10: 24,903,798 S924R probably benign Het
Olfr1454 T C 19: 13,064,149 V246A probably damaging Het
Pcif1 T C 2: 164,886,611 F263L possibly damaging Het
Pon2 A T 6: 5,272,331 L163H probably damaging Het
Scn1a C T 2: 66,302,485 V165M possibly damaging Het
Sema6d C A 2: 124,665,098 P961Q probably damaging Het
Snx27 A G 3: 94,561,843 Y64H probably damaging Het
Srsf11 C T 3: 158,012,035 probably benign Het
Taok1 A G 11: 77,571,684 V193A probably damaging Het
Vps13d T C 4: 145,016,901 T4137A probably benign Het
Zbtb26 T C 2: 37,436,271 Y251C probably damaging Het
Zcchc11 A G 4: 108,550,820 probably benign Het
Other mutations in Cpeb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Cpeb1 APN 7 81372181 missense probably benign
IGL02214:Cpeb1 APN 7 81372057 missense possibly damaging 0.89
IGL02527:Cpeb1 APN 7 81359887 missense probably damaging 1.00
IGL02878:Cpeb1 APN 7 81357326 missense probably damaging 1.00
IGL03065:Cpeb1 APN 7 81436290 missense probably benign 0.39
IGL03305:Cpeb1 APN 7 81361716 missense probably benign 0.16
PIT4458001:Cpeb1 UTSW 7 81348432 missense probably damaging 1.00
R0391:Cpeb1 UTSW 7 81361725 missense possibly damaging 0.89
R0711:Cpeb1 UTSW 7 81351870 missense probably benign 0.01
R1626:Cpeb1 UTSW 7 81436247 missense probably damaging 1.00
R1723:Cpeb1 UTSW 7 81436226 missense probably benign 0.29
R1902:Cpeb1 UTSW 7 81372119 missense probably benign 0.03
R4614:Cpeb1 UTSW 7 81436270 missense possibly damaging 0.46
R4773:Cpeb1 UTSW 7 81355947 missense probably benign
R5256:Cpeb1 UTSW 7 81351839 missense probably damaging 1.00
R5750:Cpeb1 UTSW 7 81436351 missense probably benign 0.01
R5927:Cpeb1 UTSW 7 81361680 missense possibly damaging 0.69
R6000:Cpeb1 UTSW 7 81361680 missense possibly damaging 0.69
R6526:Cpeb1 UTSW 7 81361669 missense probably benign
RF005:Cpeb1 UTSW 7 81361806 missense possibly damaging 0.79
X0067:Cpeb1 UTSW 7 81359727 critical splice donor site probably null
Z1176:Cpeb1 UTSW 7 81359728 critical splice donor site probably null
Posted On2013-12-09