Incidental Mutation 'R7939:Fnip1'
ID 648952
Institutional Source Beutler Lab
Gene Symbol Fnip1
Ensembl Gene ENSMUSG00000035992
Gene Name folliculin interacting protein 1
Synonyms A730024A03Rik
MMRRC Submission 045985-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R7939 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 54329025-54409061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54393093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 510 (Y510H)
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: Y510H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: Y510H

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: Y486H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: Y486H

DomainStartEndE-ValueType
Pfam:FNIP_N 17 139 3.9e-36 PFAM
Pfam:FNIP_M 288 526 5.1e-87 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,275,433 (GRCm39) I415T probably damaging Het
Ackr3 A G 1: 90,142,287 (GRCm39) S249G probably benign Het
Adgre1 G T 17: 57,756,938 (GRCm39) A732S probably damaging Het
Ahnak T A 19: 8,991,448 (GRCm39) L4244* probably null Het
Aldh3a2 C A 11: 61,115,424 (GRCm39) C511F probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd11 A T 8: 123,617,812 (GRCm39) H2013Q probably damaging Het
Atp5mc3 A G 2: 73,740,206 (GRCm39) probably null Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Chtf18 A T 17: 25,941,111 (GRCm39) I629N probably damaging Het
Clstn3 T C 6: 124,439,158 (GRCm39) Y33C probably damaging Het
Cmc2 T C 8: 117,616,513 (GRCm39) R71G unknown Het
Cts7 A T 13: 61,504,364 (GRCm39) N66K probably damaging Het
Cysltr2 C T 14: 73,267,399 (GRCm39) V104I possibly damaging Het
Dnai4 G A 4: 102,953,798 (GRCm39) Q134* probably null Het
Dnm3 C T 1: 162,123,165 (GRCm39) V460I possibly damaging Het
Ecel1 C T 1: 87,077,256 (GRCm39) V651I probably benign Het
Ext2 G A 2: 93,560,601 (GRCm39) R522C probably damaging Het
Farp2 T C 1: 93,487,983 (GRCm39) L70P probably damaging Het
Gm15446 T C 5: 110,090,360 (GRCm39) V204A probably benign Het
Gm29394 T C 15: 57,912,046 (GRCm39) K53E unknown Het
Gm39115 T C 7: 141,689,768 (GRCm39) T2A unknown Het
Helz2 A G 2: 180,879,543 (GRCm39) W692R probably damaging Het
Htra2 A T 6: 83,028,545 (GRCm39) Y428N probably damaging Het
Khdrbs2 T A 1: 32,212,056 (GRCm39) S20T probably benign Het
Kifap3 C A 1: 163,643,427 (GRCm39) Y217* probably null Het
Mast2 A T 4: 116,287,668 (GRCm39) S136T probably benign Het
Mesp1 C T 7: 79,442,734 (GRCm39) W181* probably null Het
Mtch1 A C 17: 29,559,806 (GRCm39) S158A probably damaging Het
Mtmr10 C A 7: 63,963,899 (GRCm39) S211R probably benign Het
Mtmr9 C A 14: 63,771,973 (GRCm39) Q204H probably damaging Het
Myo5a A G 9: 75,097,182 (GRCm39) N43D Het
Myom3 G T 4: 135,534,589 (GRCm39) probably null Het
Neb T C 2: 52,076,073 (GRCm39) D5903G probably damaging Het
Niban1 T G 1: 151,581,775 (GRCm39) L457R probably damaging Het
Noxred1 A G 12: 87,268,105 (GRCm39) V342A probably benign Het
Nsd2 T A 5: 34,012,933 (GRCm39) S421R probably benign Het
Or10a3 T C 7: 108,480,481 (GRCm39) I111V probably benign Het
Or5p55 T A 7: 107,566,986 (GRCm39) C127* probably null Het
Oxa1l T C 14: 54,604,876 (GRCm39) C270R probably benign Het
Pcdha3 T A 18: 37,080,933 (GRCm39) N558K probably damaging Het
Pcdha7 T C 18: 37,109,063 (GRCm39) V696A possibly damaging Het
Pigl T C 11: 62,349,506 (GRCm39) L74P probably damaging Het
Plch2 G T 4: 155,087,235 (GRCm39) R339S possibly damaging Het
Prdm11 G T 2: 92,843,074 (GRCm39) D128E probably damaging Het
Ptdss1 A G 13: 67,143,411 (GRCm39) T415A probably benign Het
Ptprj A T 2: 90,295,009 (GRCm39) W400R probably damaging Het
Qdpr T C 5: 45,607,407 (GRCm39) Y13C probably damaging Het
Retsat G A 6: 72,581,919 (GRCm39) M355I probably benign Het
Slc24a1 T G 9: 64,835,648 (GRCm39) E826D probably benign Het
Taok3 T C 5: 117,331,902 (GRCm39) F40L probably benign Het
Tecta T C 9: 42,299,519 (GRCm39) T190A probably damaging Het
Tmem220 C A 11: 66,920,850 (GRCm39) T85K probably damaging Het
Traip T C 9: 107,833,077 (GRCm39) F38L probably benign Het
Tspan1 A T 4: 116,024,209 (GRCm39) I18N probably damaging Het
Ttc24 A T 3: 87,981,945 (GRCm39) D40E possibly damaging Het
Ttn A T 2: 76,542,737 (GRCm39) Y33416* probably null Het
Ttn A T 2: 76,576,105 (GRCm39) D24929E probably damaging Het
Vmn2r16 T A 5: 109,487,705 (GRCm39) S193T possibly damaging Het
Vmn2r83 T A 10: 79,314,651 (GRCm39) W300R probably damaging Het
Vps13a C T 19: 16,718,155 (GRCm39) V522M possibly damaging Het
Wdr17 C A 8: 55,140,677 (GRCm39) R232L probably damaging Het
Wtap A T 17: 13,200,683 (GRCm39) Y33* probably null Het
Zc3h10 A T 10: 128,380,376 (GRCm39) V327E probably damaging Het
Zfp658 T C 7: 43,224,301 (GRCm39) S859P possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* probably null Het
Zfp980 A T 4: 145,428,582 (GRCm39) H437L 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
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
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'- ACAGCTGTTTAGAAACACAGC -3'
(R):5'- TAGTAATCACTGTGCCTGGC -3'

Sequencing Primer
(F):5'- AACAAAACCTGTTCACCTTTCTC -3'
(R):5'- CTGTGCCTGGCATAACAATG -3'
Posted On 2020-09-15