Incidental Mutation 'IGL01590:Fnip1'
ID 91569
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnip1
Ensembl Gene ENSMUSG00000035992
Gene Name folliculin interacting protein 1
Synonyms A730024A03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # IGL01590
Quality Score
Status
Chromosome 11
Chromosomal Location 54329025-54409061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54384126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 341 (D341V)
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: D341V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: D341V

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: D317V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: D317V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,590 (GRCm39) probably benign Het
Adgrb2 T G 4: 129,907,606 (GRCm39) probably benign Het
Apcs C T 1: 172,722,034 (GRCm39) G104D probably damaging Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Cep250 A T 2: 155,834,237 (GRCm39) Q2054L possibly damaging Het
Dennd6a T G 14: 26,340,507 (GRCm39) V207G probably benign Het
Ehbp1 C A 11: 22,045,611 (GRCm39) D688Y possibly damaging Het
Fam83a C A 15: 57,873,173 (GRCm39) S334Y probably damaging Het
Fam83e T A 7: 45,373,360 (GRCm39) F242Y probably null Het
Gpatch3 A G 4: 133,308,028 (GRCm39) probably benign Het
Gpc2 C A 5: 138,272,640 (GRCm39) V558F probably damaging Het
H2-M10.6 A G 17: 37,123,641 (GRCm39) N112D probably benign Het
Hs6st1 A T 1: 36,142,785 (GRCm39) D240V probably damaging Het
Inpp5f T A 7: 128,266,031 (GRCm39) probably null Het
Itga8 G T 2: 12,165,144 (GRCm39) H822N probably damaging Het
Kif20b T A 19: 34,932,126 (GRCm39) N1263K possibly damaging Het
Krt28 A G 11: 99,265,220 (GRCm39) probably null Het
Muc5ac A T 7: 141,352,630 (GRCm39) M706L probably benign Het
Or1j12 A T 2: 36,343,004 (GRCm39) M136L probably benign Het
Or52h9 A C 7: 104,202,782 (GRCm39) I219L probably benign Het
Prox2 A G 12: 85,134,845 (GRCm39) W479R probably damaging Het
Rps19 A T 7: 24,587,881 (GRCm39) D152V probably damaging Het
Slc20a1 G A 2: 129,051,146 (GRCm39) probably benign Het
Slc7a2 C T 8: 41,367,137 (GRCm39) P564S probably damaging Het
Slco1a5 C A 6: 142,196,045 (GRCm39) M319I probably benign Het
Spmip2 A C 3: 79,356,647 (GRCm39) N150T probably damaging Het
Spopfm3 G A 3: 94,105,674 (GRCm39) probably benign Het
Tanc1 A G 2: 59,615,817 (GRCm39) T275A probably benign Het
Tenm3 A G 8: 48,681,837 (GRCm39) S2598P probably damaging Het
Tiparp G A 3: 65,439,397 (GRCm39) E56K probably benign Het
Trpm5 G A 7: 142,636,471 (GRCm39) R489C probably damaging Het
Vmn2r84 C A 10: 130,221,964 (GRCm39) G752V probably damaging Het
Wnt5b T A 6: 119,417,515 (GRCm39) T130S possibly damaging Het
Other mutations in Fnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fnip1 APN 11 54,390,334 (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
R5689:Fnip1 UTSW 11 54,393,115 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-12-09