Incidental Mutation 'IGL01449:Fnip1'
ID 84562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnip1
Ensembl Gene ENSMUSG00000035992
Gene Name folliculin interacting protein 1
Synonyms A730024A03Rik
Accession Numbers

Ncbi RefSeq: NM_173753.4; MGI:2444668
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # IGL01449
Quality Score
Status
Chromosome 11
Chromosomal Location 54438199-54518235 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54499508 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 434 (R434C)
Ref Sequence ENSEMBL: ENSMUSP00000049026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046835] [ENSMUST00000143650]
AlphaFold Q68FD7
Predicted Effect probably damaging
Transcript: ENSMUST00000046835
AA Change: R434C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: R434C

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 damaging
Transcript: ENSMUST00000143650
AA Change: R410C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: R410C

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 72,444,849 L33F probably benign Het
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
BC051665 A G 13: 60,782,704 V278A probably damaging Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Gm43638 A T 5: 87,486,215 S178T possibly damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Osbpl2 G T 2: 180,145,194 probably benign Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Ttc1 T A 11: 43,738,803 S179C probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Usp12 T C 5: 146,754,440 D168G probably benign Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging Het
Other mutations in Fnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02476:Fnip1 APN 11 54499567 splice site probably benign
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
R7664:Fnip1 UTSW 11 54466125 missense probably damaging 1.00
R7706:Fnip1 UTSW 11 54515499 missense probably benign 0.41
R7866:Fnip1 UTSW 11 54465402 start gained probably benign
R7939:Fnip1 UTSW 11 54502267 missense probably damaging 1.00
R7943:Fnip1 UTSW 11 54502388 missense probably damaging 1.00
R8429:Fnip1 UTSW 11 54475696 missense possibly damaging 0.94
R8546:Fnip1 UTSW 11 54510000 missense probably benign 0.23
R8753:Fnip1 UTSW 11 54510041 missense probably damaging 0.99
R8834:Fnip1 UTSW 11 54504755 missense possibly damaging 0.83
R8875:Fnip1 UTSW 11 54515554 missense probably damaging 1.00
R9605:Fnip1 UTSW 11 54490887 missense probably benign 0.02
R9735:Fnip1 UTSW 11 54503447 missense probably damaging 0.97
Posted On 2013-11-11