Incidental Mutation 'R5689:Fnip1'
ID 443585
Institutional Source Beutler Lab
Gene Symbol Fnip1
Ensembl Gene ENSMUSG00000035992
Gene Name folliculin interacting protein 1
Synonyms A730024A03Rik
MMRRC Submission 043322-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R5689 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 54329025-54409061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54393115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 517 (V517A)
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: V517A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: V517A

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: V493A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: V493A

DomainStartEndE-ValueType
Pfam:FNIP_N 17 139 3.9e-36 PFAM
Pfam:FNIP_M 288 526 5.1e-87 PFAM
Meta Mutation Damage Score 0.3121 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (63/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G T 8: 89,051,412 (GRCm39) C844F probably benign Het
Afdn T C 17: 14,075,621 (GRCm39) V945A probably damaging Het
Aimp2 T C 5: 143,843,389 (GRCm39) D67G possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp11b G T 3: 35,888,501 (GRCm39) V924F possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Cfb T A 17: 35,080,770 (GRCm39) T76S probably benign Het
Cmpk2 A T 12: 26,519,766 (GRCm39) H139L probably benign Het
Cypt4 T C 9: 24,536,542 (GRCm39) S11P possibly damaging Het
Dbx1 A G 7: 49,282,519 (GRCm39) F229L probably damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dnah7a A G 1: 53,444,857 (GRCm39) V3949A possibly damaging Het
Dnajc25 A G 4: 59,017,716 (GRCm39) E6G probably damaging Het
Dync2h1 C A 9: 7,169,689 (GRCm39) V263F probably damaging Het
Eno4 T A 19: 58,959,088 (GRCm39) D403E probably benign Het
Evi5l C T 8: 4,255,460 (GRCm39) Q542* probably null Het
Fam135a A G 1: 24,068,134 (GRCm39) S12P probably benign Het
Flnc G A 6: 29,441,591 (GRCm39) A458T probably benign Het
Galc G T 12: 98,179,245 (GRCm39) H361N possibly damaging Het
Gask1a T C 9: 121,794,754 (GRCm39) F303L probably damaging Het
Gcnt1 T A 19: 17,306,768 (GRCm39) D319V probably damaging Het
Gm26996 T C 6: 130,555,258 (GRCm39) noncoding transcript Het
Gm5321 A T 7: 6,022,268 (GRCm39) noncoding transcript Het
Grin3b T C 10: 79,810,465 (GRCm39) L657P probably damaging Het
Gstm5 T C 3: 107,803,981 (GRCm39) F54S probably damaging Het
Ilk C A 7: 105,390,857 (GRCm39) L267I probably benign Het
Lifr A G 15: 7,214,285 (GRCm39) Y713C probably damaging Het
Lnx2 A T 5: 146,965,961 (GRCm39) V386E probably damaging Het
Lrch1 T C 14: 75,023,764 (GRCm39) E587G probably damaging Het
Or10g3 C T 14: 52,610,214 (GRCm39) V99M possibly damaging Het
Osgin1 A G 8: 120,171,728 (GRCm39) *173W probably null Het
Pcdhga7 C A 18: 37,849,736 (GRCm39) P581H probably damaging Het
Pde4dip A T 3: 97,599,683 (GRCm39) L2384* probably null Het
Phf12 T A 11: 77,914,551 (GRCm39) N115K probably damaging Het
Pmel A G 10: 128,552,170 (GRCm39) T335A probably damaging Het
Polr3e C A 7: 120,539,912 (GRCm39) T579K possibly damaging Het
Ptprc A G 1: 138,045,515 (GRCm39) V164A probably benign Het
Rapsn T C 2: 90,866,269 (GRCm39) F43S probably damaging Het
Rarb T A 14: 16,434,177 (GRCm38) I334F probably damaging Het
Rev3l T C 10: 39,670,954 (GRCm39) Y167H probably damaging Het
Rnf146 T C 10: 29,223,800 (GRCm39) T29A probably benign Het
Rsf1 GC GCGGCGGCGCC 7: 97,229,141 (GRCm39) probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc5a10 C T 11: 61,598,710 (GRCm39) M223I probably benign Het
Slc7a11 C G 3: 50,326,780 (GRCm39) V494L probably benign Het
Slitrk6 C T 14: 110,989,558 (GRCm39) E50K probably benign Het
Smg8 A G 11: 86,975,949 (GRCm39) F544S probably damaging Het
Tnpo3 T C 6: 29,571,063 (GRCm39) M444V possibly damaging Het
Trav7d-4 G A 14: 53,007,651 (GRCm39) R48H probably damaging Het
Trim50 A T 5: 135,382,516 (GRCm39) T123S probably damaging Het
Trpc4ap C G 2: 155,512,955 (GRCm39) probably null Het
Ttn T A 2: 76,618,620 (GRCm39) R14475S probably damaging Het
Uts2 A T 4: 151,083,565 (GRCm39) T59S possibly damaging Het
Vmn1r52 T C 6: 90,156,232 (GRCm39) S179P possibly damaging Het
Vmn2r116 A G 17: 23,616,693 (GRCm39) H537R probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Zfhx2 T C 14: 55,311,360 (GRCm39) T445A possibly damaging Het
Zfp638 T C 6: 83,906,054 (GRCm39) V73A probably damaging Het
Other mutations in Fnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fnip1 APN 11 54,390,334 (GRCm39) missense probably damaging 1.00
IGL01590:Fnip1 APN 11 54,384,126 (GRCm39) missense probably damaging 1.00
IGL01959:Fnip1 APN 11 54,381,738 (GRCm39) missense possibly damaging 0.95
IGL02157:Fnip1 APN 11 54,378,589 (GRCm39) missense probably damaging 1.00
IGL02197:Fnip1 APN 11 54,384,200 (GRCm39) missense probably damaging 1.00
IGL02476:Fnip1 APN 11 54,390,393 (GRCm39) splice site probably benign
IGL02639:Fnip1 APN 11 54,366,466 (GRCm39) nonsense probably null
IGL02742:Fnip1 APN 11 54,384,177 (GRCm39) missense probably damaging 1.00
hamel UTSW 11 54,371,511 (GRCm39) critical splice donor site probably benign
hamel2 UTSW 11 54,393,097 (GRCm39) missense probably damaging 1.00
Normandy UTSW 11 54,384,007 (GRCm39) splice site probably benign
H8562:Fnip1 UTSW 11 54,371,123 (GRCm39) missense probably damaging 0.98
P0043:Fnip1 UTSW 11 54,394,051 (GRCm39) missense probably benign 0.00
R0114:Fnip1 UTSW 11 54,378,627 (GRCm39) splice site probably benign
R0278:Fnip1 UTSW 11 54,380,169 (GRCm39) splice site probably null
R0409:Fnip1 UTSW 11 54,371,180 (GRCm39) splice site probably null
R0840:Fnip1 UTSW 11 54,384,007 (GRCm39) splice site probably benign
R1131:Fnip1 UTSW 11 54,384,129 (GRCm39) missense possibly damaging 0.82
R1205:Fnip1 UTSW 11 54,393,132 (GRCm39) missense possibly damaging 0.91
R1271:Fnip1 UTSW 11 54,394,123 (GRCm39) missense probably benign
R1817:Fnip1 UTSW 11 54,393,279 (GRCm39) missense probably benign 0.30
R1826:Fnip1 UTSW 11 54,356,990 (GRCm39) missense probably damaging 1.00
R1872:Fnip1 UTSW 11 54,378,561 (GRCm39) missense probably damaging 1.00
R1883:Fnip1 UTSW 11 54,406,373 (GRCm39) missense probably damaging 1.00
R1917:Fnip1 UTSW 11 54,371,510 (GRCm39) missense probably damaging 0.99
R1918:Fnip1 UTSW 11 54,371,510 (GRCm39) missense probably damaging 0.99
R1919:Fnip1 UTSW 11 54,371,510 (GRCm39) missense probably damaging 0.99
R2010:Fnip1 UTSW 11 54,373,329 (GRCm39) missense probably damaging 1.00
R2117:Fnip1 UTSW 11 54,391,450 (GRCm39) missense probably damaging 1.00
R2329:Fnip1 UTSW 11 54,356,933 (GRCm39) missense probably damaging 0.98
R2337:Fnip1 UTSW 11 54,366,563 (GRCm39) missense probably damaging 0.98
R2850:Fnip1 UTSW 11 54,393,503 (GRCm39) missense probably benign 0.32
R2863:Fnip1 UTSW 11 54,393,250 (GRCm39) missense probably damaging 1.00
R2864:Fnip1 UTSW 11 54,393,250 (GRCm39) missense probably damaging 1.00
R2865:Fnip1 UTSW 11 54,393,250 (GRCm39) missense probably damaging 1.00
R3936:Fnip1 UTSW 11 54,371,065 (GRCm39) splice site probably null
R4017:Fnip1 UTSW 11 54,400,813 (GRCm39) missense probably benign 0.14
R4033:Fnip1 UTSW 11 54,393,297 (GRCm39) missense probably benign 0.02
R4668:Fnip1 UTSW 11 54,394,385 (GRCm39) missense probably damaging 1.00
R4695:Fnip1 UTSW 11 54,390,245 (GRCm39) missense probably damaging 1.00
R4762:Fnip1 UTSW 11 54,390,352 (GRCm39) missense probably benign 0.01
R4762:Fnip1 UTSW 11 54,356,997 (GRCm39) missense probably damaging 1.00
R4777:Fnip1 UTSW 11 54,391,382 (GRCm39) missense probably damaging 1.00
R4863:Fnip1 UTSW 11 54,406,382 (GRCm39) missense possibly damaging 0.52
R5369:Fnip1 UTSW 11 54,393,415 (GRCm39) missense probably benign
R5481:Fnip1 UTSW 11 54,393,470 (GRCm39) missense probably benign 0.01
R5562:Fnip1 UTSW 11 54,380,168 (GRCm39) critical splice donor site probably null
R5563:Fnip1 UTSW 11 54,395,688 (GRCm39) missense probably benign 0.05
R5628:Fnip1 UTSW 11 54,394,459 (GRCm39) missense probably benign 0.08
R6009:Fnip1 UTSW 11 54,393,097 (GRCm39) missense probably damaging 1.00
R6120:Fnip1 UTSW 11 54,400,826 (GRCm39) missense probably benign 0.23
R6429:Fnip1 UTSW 11 54,406,393 (GRCm39) missense probably damaging 1.00
R6546:Fnip1 UTSW 11 54,393,437 (GRCm39) missense probably benign 0.03
R6600:Fnip1 UTSW 11 54,393,925 (GRCm39) missense probably benign
R6882:Fnip1 UTSW 11 54,400,724 (GRCm39) missense probably damaging 1.00
R6966:Fnip1 UTSW 11 54,373,385 (GRCm39) missense probably benign 0.00
R7009:Fnip1 UTSW 11 54,393,761 (GRCm39) missense probably damaging 1.00
R7664:Fnip1 UTSW 11 54,356,951 (GRCm39) missense probably damaging 1.00
R7706:Fnip1 UTSW 11 54,406,325 (GRCm39) missense probably benign 0.41
R7866:Fnip1 UTSW 11 54,356,228 (GRCm39) start gained probably benign
R7939:Fnip1 UTSW 11 54,393,093 (GRCm39) missense probably damaging 1.00
R7943:Fnip1 UTSW 11 54,393,214 (GRCm39) missense probably damaging 1.00
R8429:Fnip1 UTSW 11 54,366,522 (GRCm39) missense possibly damaging 0.94
R8546:Fnip1 UTSW 11 54,400,826 (GRCm39) missense probably benign 0.23
R8753:Fnip1 UTSW 11 54,400,867 (GRCm39) missense probably damaging 0.99
R8834:Fnip1 UTSW 11 54,395,581 (GRCm39) missense possibly damaging 0.83
R8875:Fnip1 UTSW 11 54,406,380 (GRCm39) missense probably damaging 1.00
R9605:Fnip1 UTSW 11 54,381,713 (GRCm39) missense probably benign 0.02
R9735:Fnip1 UTSW 11 54,394,273 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACAGCTGTTTAGAAACACAGC -3'
(R):5'- CTAAAGTGGTAGTAATCACTGTGC -3'

Sequencing Primer
(F):5'- AACAAAACCTGTTCACCTTTCTC -3'
(R):5'- CTGTGCCTGGCATAACAATG -3'
Posted On 2016-11-09