Incidental Mutation 'IGL03065:Cpeb1'
ID 409638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpeb1
Ensembl Gene ENSMUSG00000025586
Gene Name cytoplasmic polyadenylation element binding protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03065
Quality Score
Status
Chromosome 7
Chromosomal Location 80996774-81105207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81086038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 35 (R35G)
Ref Sequence ENSEMBL: ENSMUSP00000095936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]
AlphaFold P70166
Predicted Effect probably benign
Transcript: ENSMUST00000098331
AA Change: R35G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: R35G

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 noncoding transcript
Transcript: ENSMUST00000124937
Predicted Effect probably benign
Transcript: ENSMUST00000130310
AA Change: R30G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: R30G

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 probably benign
Transcript: ENSMUST00000178892
AA Change: R35G

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: R35G

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Als2 T C 1: 59,255,031 (GRCm39) S109G probably benign Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cd200r1 T G 16: 44,614,645 (GRCm39) V308G probably benign Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gcc1 T A 6: 28,418,401 (GRCm39) Q644L possibly damaging Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Heph T A X: 95,571,173 (GRCm39) I669N probably benign Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Nxpe2 T A 9: 48,230,992 (GRCm39) N459I possibly damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Or4k47 T C 2: 111,451,535 (GRCm39) K295E probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign Het
Other mutations in Cpeb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Cpeb1 APN 7 81,021,929 (GRCm39) missense probably benign
IGL01598:Cpeb1 APN 7 81,011,549 (GRCm39) missense probably benign
IGL02214:Cpeb1 APN 7 81,021,805 (GRCm39) missense possibly damaging 0.89
IGL02527:Cpeb1 APN 7 81,009,635 (GRCm39) missense probably damaging 1.00
IGL02878:Cpeb1 APN 7 81,007,074 (GRCm39) missense probably damaging 1.00
IGL03305:Cpeb1 APN 7 81,011,464 (GRCm39) missense probably benign 0.16
PIT4458001:Cpeb1 UTSW 7 80,998,180 (GRCm39) missense probably damaging 1.00
R0391:Cpeb1 UTSW 7 81,011,473 (GRCm39) missense possibly damaging 0.89
R0711:Cpeb1 UTSW 7 81,001,618 (GRCm39) missense probably benign 0.01
R1626:Cpeb1 UTSW 7 81,085,995 (GRCm39) missense probably damaging 1.00
R1723:Cpeb1 UTSW 7 81,085,974 (GRCm39) missense probably benign 0.29
R1902:Cpeb1 UTSW 7 81,021,867 (GRCm39) missense probably benign 0.03
R4614:Cpeb1 UTSW 7 81,086,018 (GRCm39) missense possibly damaging 0.46
R4773:Cpeb1 UTSW 7 81,005,695 (GRCm39) missense probably benign
R5256:Cpeb1 UTSW 7 81,001,587 (GRCm39) missense probably damaging 1.00
R5750:Cpeb1 UTSW 7 81,086,099 (GRCm39) missense probably benign 0.01
R5927:Cpeb1 UTSW 7 81,011,428 (GRCm39) missense possibly damaging 0.69
R6000:Cpeb1 UTSW 7 81,011,428 (GRCm39) missense possibly damaging 0.69
R6526:Cpeb1 UTSW 7 81,011,417 (GRCm39) missense probably benign
R8150:Cpeb1 UTSW 7 81,007,152 (GRCm39) missense probably damaging 0.99
R9608:Cpeb1 UTSW 7 81,021,758 (GRCm39) critical splice donor site probably null
RF005:Cpeb1 UTSW 7 81,011,554 (GRCm39) missense possibly damaging 0.79
X0067:Cpeb1 UTSW 7 81,009,475 (GRCm39) critical splice donor site probably null
Z1176:Cpeb1 UTSW 7 81,009,476 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02