Incidental Mutation 'R5369:Fnip1'
ID 429559
Institutional Source Beutler Lab
Gene Symbol Fnip1
Ensembl Gene ENSMUSG00000035992
Gene Name folliculin interacting protein 1
Synonyms A730024A03Rik
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R5369 (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 54393415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 593 (V593A)
Ref Sequence ENSEMBL: ENSMUSP00000121399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046835] [ENSMUST00000143650]
AlphaFold Q68FD7
Predicted Effect probably benign
Transcript: ENSMUST00000046835
AA Change: V617A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: V617A

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
AA Change: V593A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: V593A

DomainStartEndE-ValueType
Pfam:FNIP_N 17 139 3.9e-36 PFAM
Pfam:FNIP_M 288 526 5.1e-87 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V 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
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
Predicted Primers PCR Primer
(F):5'- CCATTGTTATGCCAGGCACAG -3'
(R):5'- AACACACATTTGTCGGCTGGAG -3'

Sequencing Primer
(F):5'- GTTATGCCAGGCACAGTGATTAC -3'
(R):5'- CAAACAACTGTCTCTAACTTGGTGTC -3'
Posted On 2016-09-06