Incidental Mutation 'IGL02476:Fnip1'
ID294976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnip1
Ensembl Gene ENSMUSG00000035992
Gene Namefolliculin interacting protein 1
SynonymsA730024A03Rik
Accession Numbers

Ncbi RefSeq: NM_173753.4; MGI:2444668

Is this an essential gene? Probably essential (E-score: 0.761) question?
Stock #IGL02476
Quality Score
Status
Chromosome11
Chromosomal Location54438199-54518235 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 54499567 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046835] [ENSMUST00000143650]
Predicted Effect probably benign
Transcript: ENSMUST00000046835
SMART Domains Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992

DomainStartEndE-ValueType
Pfam:FNIP_N 41 159 1.7e-29 PFAM
Pfam:FNIP_M 316 549 9.9e-92 PFAM
Pfam:FNIP_C 975 1161 7.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143650
SMART Domains Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992

DomainStartEndE-ValueType
Pfam:FNIP_N 17 139 3.9e-36 PFAM
Pfam:FNIP_M 288 526 5.1e-87 PFAM
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 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

All alleles(3) : Targeted(1) Gene trapped(2)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,281,524 probably benign Het
Birc6 A G 17: 74,696,391 E4752G possibly damaging Het
Chd1 C T 17: 15,734,273 P468S probably damaging Het
Cnot3 A G 7: 3,658,068 D556G probably benign Het
Csnk1d A G 11: 120,972,512 Y201H probably damaging Het
Dhtkd1 A G 2: 5,930,906 S132P possibly damaging Het
Dhx58 G T 11: 100,702,264 Q206K probably benign Het
Dio1 C A 4: 107,292,377 V195F probably damaging Het
Dio3 T C 12: 110,279,482 V84A probably benign Het
Extl3 T C 14: 65,077,244 K163R probably benign Het
Fat2 A T 11: 55,311,124 S375T probably damaging Het
Fbrs A G 7: 127,487,669 D73G probably damaging Het
Frmpd4 A G X: 167,497,855 V343A probably damaging Het
Gcc1 T C 6: 28,420,469 D283G probably benign Het
Ghr T C 15: 3,320,046 D550G probably damaging Het
Glycam1 G A 15: 103,562,880 probably benign Het
Gpatch8 A G 11: 102,478,591 S1374P probably damaging Het
Grm1 A T 10: 10,689,453 M1037K probably benign Het
Gtpbp3 T C 8: 71,492,598 L438P probably damaging Het
Ifi205 G T 1: 174,015,061 N356K probably damaging Het
Ifi206 A G 1: 173,481,566 L288P probably benign Het
Ift57 T C 16: 49,763,889 V291A probably benign Het
Kif13a A C 13: 46,785,296 C166G probably damaging Het
Lypd6 A G 2: 50,190,728 T143A possibly damaging Het
Mtus2 G A 5: 148,077,938 A514T probably benign Het
Neu2 T C 1: 87,596,952 W220R probably damaging Het
Notch3 T C 17: 32,158,638 S155G possibly damaging Het
Nrxn2 A G 19: 6,454,985 E286G probably damaging Het
Onecut3 A G 10: 80,513,890 E406G probably benign Het
Oog2 T A 4: 144,195,229 D236E probably benign Het
Pck1 A G 2: 173,158,282 H502R probably benign Het
Pld1 A G 3: 28,048,039 Y313C probably damaging Het
Rhox3f A T X: 37,581,539 probably benign Het
Rpl34 A G 3: 130,726,964 probably benign Het
Sema4c T C 1: 36,555,950 K31E probably damaging Het
Sept11 T C 5: 93,148,584 probably null Het
Slc4a9 T A 18: 36,535,445 probably null Het
Snrnp200 T A 2: 127,217,488 S434T probably benign Het
Snx13 A T 12: 35,086,941 I134F probably damaging Het
Syt2 T C 1: 134,747,631 S407P probably benign Het
Tbc1d19 T C 5: 53,889,413 probably null Het
Tbc1d32 G T 10: 56,198,542 Q192K possibly damaging Het
Ubr4 T A 4: 139,421,249 C1681* probably null Het
Vmn1r43 T A 6: 89,870,061 I148F possibly damaging Het
Vwa8 T C 14: 78,925,341 V187A possibly damaging Het
Wdr78 T A 4: 103,087,348 I3L possibly damaging Het
Other mutations in Fnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fnip1 APN 11 54499508 missense probably damaging 1.00
IGL01590:Fnip1 APN 11 54493300 missense probably damaging 1.00
IGL01959:Fnip1 APN 11 54490912 missense possibly damaging 0.95
IGL02157:Fnip1 APN 11 54487763 missense probably damaging 1.00
IGL02197:Fnip1 APN 11 54493374 missense probably damaging 1.00
IGL02639:Fnip1 APN 11 54475640 nonsense probably null
IGL02742:Fnip1 APN 11 54493351 missense probably damaging 1.00
hamel UTSW 11 54480685 critical splice donor site probably benign
hamel2 UTSW 11 54502271 missense probably damaging 1.00
Normandy UTSW 11 54493181 splice site probably benign
H8562:Fnip1 UTSW 11 54480297 missense probably damaging 0.98
P0043:Fnip1 UTSW 11 54503225 missense probably benign 0.00
R0114:Fnip1 UTSW 11 54487801 splice site probably benign
R0278:Fnip1 UTSW 11 54489343 splice site probably null
R0409:Fnip1 UTSW 11 54480354 splice site probably null
R0840:Fnip1 UTSW 11 54493181 splice site probably benign
R1131:Fnip1 UTSW 11 54493303 missense possibly damaging 0.82
R1205:Fnip1 UTSW 11 54502306 missense possibly damaging 0.91
R1271:Fnip1 UTSW 11 54503297 missense probably benign
R1817:Fnip1 UTSW 11 54502453 missense probably benign 0.30
R1826:Fnip1 UTSW 11 54466164 missense probably damaging 1.00
R1872:Fnip1 UTSW 11 54487735 missense probably damaging 1.00
R1883:Fnip1 UTSW 11 54515547 missense probably damaging 1.00
R1917:Fnip1 UTSW 11 54480684 missense probably damaging 0.99
R1918:Fnip1 UTSW 11 54480684 missense probably damaging 0.99
R1919:Fnip1 UTSW 11 54480684 missense probably damaging 0.99
R2010:Fnip1 UTSW 11 54482503 missense probably damaging 1.00
R2117:Fnip1 UTSW 11 54500624 missense probably damaging 1.00
R2329:Fnip1 UTSW 11 54466107 missense probably damaging 0.98
R2337:Fnip1 UTSW 11 54475737 missense probably damaging 0.98
R2850:Fnip1 UTSW 11 54502677 missense probably benign 0.32
R2863:Fnip1 UTSW 11 54502424 missense probably damaging 1.00
R2864:Fnip1 UTSW 11 54502424 missense probably damaging 1.00
R2865:Fnip1 UTSW 11 54502424 missense probably damaging 1.00
R3936:Fnip1 UTSW 11 54480239 splice site probably null
R4017:Fnip1 UTSW 11 54509987 missense probably benign 0.14
R4033:Fnip1 UTSW 11 54502471 missense probably benign 0.02
R4668:Fnip1 UTSW 11 54503559 missense probably damaging 1.00
R4695:Fnip1 UTSW 11 54499419 missense probably damaging 1.00
R4762:Fnip1 UTSW 11 54466171 missense probably damaging 1.00
R4762:Fnip1 UTSW 11 54499526 missense probably benign 0.01
R4777:Fnip1 UTSW 11 54500556 missense probably damaging 1.00
R4863:Fnip1 UTSW 11 54515556 missense possibly damaging 0.52
R5369:Fnip1 UTSW 11 54502589 missense probably benign
R5481:Fnip1 UTSW 11 54502644 missense probably benign 0.01
R5562:Fnip1 UTSW 11 54489342 critical splice donor site probably null
R5563:Fnip1 UTSW 11 54504862 missense probably benign 0.05
R5628:Fnip1 UTSW 11 54503633 missense probably benign 0.08
R5689:Fnip1 UTSW 11 54502289 missense probably damaging 1.00
R6009:Fnip1 UTSW 11 54502271 missense probably damaging 1.00
R6120:Fnip1 UTSW 11 54510000 missense probably benign 0.23
R6429:Fnip1 UTSW 11 54515567 missense probably damaging 1.00
R6546:Fnip1 UTSW 11 54502611 missense probably benign 0.03
R6600:Fnip1 UTSW 11 54503099 missense probably benign
R6882:Fnip1 UTSW 11 54509898 missense probably damaging 1.00
R6966:Fnip1 UTSW 11 54482559 missense probably benign 0.00
R7009:Fnip1 UTSW 11 54502935 missense probably damaging 1.00
Posted On2015-04-16