|Institutional Source||Beutler Lab|
|Gene Name||nuclear fragile X mental retardation protein interacting protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7129 (G1)|
|Chromosomal Location||76110891-76137379 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 76134885 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 480 (K480E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022586 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022586]|
|Predicted Effect||possibly damaging
AA Change: K480E
PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: K480E
|Meta Mutation Damage Score||0.1057|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nufip1||
(F):5'- CCGGTATCTCAGCTGTAAGTC -3'
(R):5'- TGCATAAAGCCTGAGGACAG -3'
(F):5'- GATAAACCTGTCTTACTAGCCTGTG -3'
(R):5'- GCCTGAGGACAGACTTAAAATCC -3'