|Institutional Source||Beutler Lab|
|Gene Name||folliculin interacting protein 1|
|Is this an essential gene?||Possibly essential (E-score: 0.710)|
|Stock #||R6882 (G1)|
|Chromosomal Location||54438199-54518235 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 54509898 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 1041 (E1041G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049026 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046835]|
|Predicted Effect||probably damaging
AA Change: E1041G
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: E1041G
|Meta Mutation Damage Score||0.7649|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the folliculin-interacting protein family. The encoded protein binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK) and be involved in cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. A homologous binding partner of this protein, folliculin-interacting protein 2, has similar binding activities and may suggest functional redundancy within this protein family. Both folliculin-interacting proteins have also been shown to bind the molecular chaperone heat shock protein-90 (Hsp90) and they may function as a co-chaperones in the stabilization of tumor suppressor folliculin which is a target of Hsp90 chaperone activity. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced or targeted allele exhibit arrested B cell development at the pre-B cell stage with increased B cell apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fnip1||
(F):5'- GCATGTTGATGGCTGATAGC -3'
(R):5'- AGCCAAGTTCACTCAGCAG -3'
(F):5'- AGCACAGAATTTTACAATTGTCCC -3'
(R):5'- CTCAGCAGAGTACTCAAAGTCATTG -3'