Incidental Mutation 'R2328:Cggbp1'
ID 245774
Institutional Source Beutler Lab
Gene Symbol Cggbp1
Ensembl Gene ENSMUSG00000054604
Gene Name CGG triplet repeat binding protein 1
Synonyms
MMRRC Submission 040319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R2328 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 64672364-64679854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64676366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 144 (D144G)
Ref Sequence ENSEMBL: ENSMUSP00000065845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067744] [ENSMUST00000207826]
AlphaFold Q8BHG9
Predicted Effect probably benign
Transcript: ENSMUST00000067744
AA Change: D144G

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136532
Predicted Effect probably benign
Transcript: ENSMUST00000207826
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T A 4: 144,182,502 (GRCm39) Y322F probably benign Het
Abca5 T C 11: 110,167,347 (GRCm39) T1490A probably damaging Het
Akap1 A G 11: 88,735,870 (GRCm39) V264A possibly damaging Het
Cubn C A 2: 13,408,891 (GRCm39) G1352* probably null Het
Cyfip1 T A 7: 55,544,739 (GRCm39) M457K possibly damaging Het
Dag1 T C 9: 108,086,451 (GRCm39) N230S probably damaging Het
Dbh T C 2: 27,055,742 (GRCm39) V72A probably benign Het
Dnah11 A G 12: 117,850,421 (GRCm39) S4218P probably damaging Het
Dnah8 A T 17: 31,013,718 (GRCm39) I3820F probably damaging Het
Erbb3 C T 10: 128,419,562 (GRCm39) C186Y probably damaging Het
Foxd1 T C 13: 98,491,660 (GRCm39) I178T probably damaging Het
Gpc5 C T 14: 116,025,591 (GRCm39) R470W probably damaging Het
Hace1 G T 10: 45,525,041 (GRCm39) R269L probably benign Het
Inpp5a A T 7: 139,058,010 (GRCm39) K73* probably null Het
Or10d5j A G 9: 39,868,196 (GRCm39) F24L possibly damaging Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,976,940 (GRCm39) probably benign Het
Pzp T C 6: 128,487,353 (GRCm39) I504V possibly damaging Het
Scgb1b19 T A 7: 32,987,911 (GRCm39) C93S probably damaging Het
Setx TGTGG T 2: 29,044,072 (GRCm39) probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slamf6 G A 1: 171,761,818 (GRCm39) V80I probably benign Het
Snapc3 T A 4: 83,353,514 (GRCm39) Y184* probably null Het
Spg21 T C 9: 65,394,155 (GRCm39) I284T possibly damaging Het
Tas2r123 A T 6: 132,824,279 (GRCm39) T59S probably benign Het
Trip11 T G 12: 101,845,086 (GRCm39) *139C probably null Het
Trp53inp1 T C 4: 11,164,495 (GRCm39) V13A probably benign Het
Wtap C T 17: 13,186,425 (GRCm39) R374Q possibly damaging Het
Ydjc A G 16: 16,964,986 (GRCm39) E47G possibly damaging Het
Zc3h6 A G 2: 128,835,122 (GRCm39) D86G possibly damaging Het
Other mutations in Cggbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0158:Cggbp1 UTSW 16 64,676,201 (GRCm39) missense possibly damaging 0.93
R2351:Cggbp1 UTSW 16 64,676,046 (GRCm39) missense possibly damaging 0.94
R6329:Cggbp1 UTSW 16 64,676,383 (GRCm39) missense probably damaging 0.99
R9236:Cggbp1 UTSW 16 64,676,318 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TCGCTTCAGTGCAACAGTCC -3'
(R):5'- AGCAGTAAGTTTTGCAGTGAGG -3'

Sequencing Primer
(F):5'- AGTCCTGCGCAAACAGAG -3'
(R):5'- GAGGTTTCTTTCTTTTGCCTAAAAC -3'
Posted On 2014-10-30