Incidental Mutation 'R9766:Flot1'
ID 733303
Institutional Source Beutler Lab
Gene Symbol Flot1
Ensembl Gene ENSMUSG00000059714
Gene Name flotillin 1
Synonyms reggie-2
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R9766 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 36134243-36143674 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 36141555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 321 (E321*)
Ref Sequence ENSEMBL: ENSMUSP00000001569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001566] [ENSMUST00000001569] [ENSMUST00000172846] [ENSMUST00000173147] [ENSMUST00000173493] [ENSMUST00000173628] [ENSMUST00000174080]
AlphaFold O08917
Predicted Effect probably benign
Transcript: ENSMUST00000001566
SMART Domains Protein: ENSMUSP00000001566
Gene: ENSMUSG00000001525

DomainStartEndE-ValueType
Tubulin 47 244 6.29e-67 SMART
Tubulin_C 246 383 7.25e-49 SMART
low complexity region 428 444 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000001569
AA Change: E321*
SMART Domains Protein: ENSMUSP00000001569
Gene: ENSMUSG00000059714
AA Change: E321*

DomainStartEndE-ValueType
PHB 84 266 4.92e-18 SMART
low complexity region 287 305 N/A INTRINSIC
Pfam:Flot 308 404 3.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172846
SMART Domains Protein: ENSMUSP00000134681
Gene: ENSMUSG00000059714

DomainStartEndE-ValueType
PHB 1 168 1.02e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173147
SMART Domains Protein: ENSMUSP00000133454
Gene: ENSMUSG00000059714

DomainStartEndE-ValueType
PHB 1 168 1.02e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173493
SMART Domains Protein: ENSMUSP00000134699
Gene: ENSMUSG00000059714

DomainStartEndE-ValueType
PHB 1 168 1.02e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173628
Predicted Effect probably null
Transcript: ENSMUST00000174080
AA Change: E273*
SMART Domains Protein: ENSMUSP00000134227
Gene: ENSMUSG00000059714
AA Change: E273*

DomainStartEndE-ValueType
PHB 1 218 1.92e-11 SMART
low complexity region 239 257 N/A INTRINSIC
low complexity region 271 296 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired neutrophil recruitment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,788 (GRCm39) V59A probably benign Het
Aatk A T 11: 119,902,565 (GRCm39) H610Q probably benign Het
Acox1 G A 11: 116,071,867 (GRCm39) A187V probably damaging Het
Acsbg3 A G 17: 57,189,177 (GRCm39) Y195C probably benign Het
AI661453 C T 17: 47,757,570 (GRCm39) R76W probably damaging Het
Anapc1 C T 2: 128,500,221 (GRCm39) R808Q probably damaging Het
Ankrd26 T C 6: 118,500,067 (GRCm39) T1135A possibly damaging Het
Arhgap17 A G 7: 122,921,148 (GRCm39) V113A probably benign Het
Art3 T C 5: 92,562,138 (GRCm39) C379R unknown Het
Bltp3a T C 17: 28,105,799 (GRCm39) L775P probably damaging Het
Bmp5 A G 9: 75,800,982 (GRCm39) I371V probably damaging Het
Ccdc88b T A 19: 6,833,096 (GRCm39) E281V probably damaging Het
Ces1e A T 8: 93,946,031 (GRCm39) Y171N probably damaging Het
Cib3 A T 8: 72,961,034 (GRCm39) F68I possibly damaging Het
Crtac1 A T 19: 42,402,557 (GRCm39) L17Q possibly damaging Het
Crybg3 A T 16: 59,376,207 (GRCm39) S1682R probably benign Het
Ddx60 G A 8: 62,465,312 (GRCm39) G1323D probably damaging Het
Dock3 A C 9: 106,788,483 (GRCm39) D161E probably benign Het
Dpep3 A C 8: 106,705,369 (GRCm39) L127R probably damaging Het
Dus2 A G 8: 106,772,568 (GRCm39) D226G probably damaging Het
Ebna1bp2 T C 4: 118,480,821 (GRCm39) V184A possibly damaging Het
Edem1 T A 6: 108,823,648 (GRCm39) I348N probably damaging Het
Efcab8 A T 2: 153,656,362 (GRCm39) M599L unknown Het
Eif2ak4 A T 2: 118,261,313 (GRCm39) K618* probably null Het
Fbxw27 T C 9: 109,602,215 (GRCm39) K253E possibly damaging Het
Fgf5 A G 5: 98,423,113 (GRCm39) E166G possibly damaging Het
Gm14443 T C 2: 175,012,248 (GRCm39) E66G probably benign Het
Gprc6a G A 10: 51,491,884 (GRCm39) P622S probably damaging Het
Gsta2 A T 9: 78,244,876 (GRCm39) Y79* probably null Het
Hecw2 A G 1: 53,904,287 (GRCm39) S1154P probably damaging Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Kcnd2 T C 6: 21,216,367 (GRCm39) S24P probably benign Het
Knl1 A G 2: 118,900,381 (GRCm39) D694G probably damaging Het
L1td1 T C 4: 98,624,753 (GRCm39) I316T probably benign Het
Lrsam1 G T 2: 32,818,077 (GRCm39) Q660K probably benign Het
Muc16 T A 9: 18,548,153 (GRCm39) T6047S probably benign Het
Muc16 T A 9: 18,552,383 (GRCm39) T4637S probably benign Het
Myo5a T C 9: 75,078,914 (GRCm39) Y891H probably damaging Het
Nkd2 G T 13: 73,995,131 (GRCm39) D22E possibly damaging Het
Patl2 A T 2: 121,954,212 (GRCm39) V453E probably damaging Het
Pcnx2 A G 8: 126,488,313 (GRCm39) Y1744H probably damaging Het
Phf8-ps T G 17: 33,285,647 (GRCm39) N385T probably damaging Het
Pira2 T A 7: 3,845,517 (GRCm39) H289L possibly damaging Het
Pitpnm1 T C 19: 4,158,117 (GRCm39) I569T probably benign Het
Ppp4r4 T C 12: 103,562,735 (GRCm39) V568A probably benign Het
Ptf1a G A 2: 19,451,062 (GRCm39) G131S probably benign Het
Rasgrf2 G T 13: 92,160,188 (GRCm39) H396N probably damaging Het
Rfx1 C T 8: 84,814,376 (GRCm39) T315M probably damaging Het
Rnf207 C A 4: 152,400,402 (GRCm39) R148L probably damaging Het
Scn11a T G 9: 119,584,181 (GRCm39) N1478T probably damaging Het
Sdr39u1 C T 14: 56,135,194 (GRCm39) V250I probably benign Het
Serinc3 T C 2: 163,471,095 (GRCm39) T276A probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stambp C A 6: 83,534,469 (GRCm39) A273S probably benign Het
Taf2 T C 15: 54,910,881 (GRCm39) probably null Het
Tex26 A T 5: 149,386,642 (GRCm39) Y232F probably damaging Het
Tmem258 T C 19: 10,184,578 (GRCm39) L55P probably damaging Het
Trappc8 A G 18: 20,979,630 (GRCm39) I755T possibly damaging Het
Ubr4 T C 4: 139,194,595 (GRCm39) Y1163H unknown Het
Usp14 G A 18: 10,005,630 (GRCm39) T254I probably benign Het
Vcan A G 13: 89,839,247 (GRCm39) L2099P probably benign Het
Wdfy3 C T 5: 102,042,866 (GRCm39) V1962I possibly damaging Het
Zfp407 T C 18: 84,577,574 (GRCm39) T1180A probably benign Het
Zfp644 C A 5: 106,784,691 (GRCm39) G619C probably damaging Het
Other mutations in Flot1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Flot1 APN 17 36,140,763 (GRCm39) missense possibly damaging 0.76
IGL01899:Flot1 APN 17 36,141,573 (GRCm39) missense probably benign 0.01
R0579:Flot1 UTSW 17 36,141,900 (GRCm39) missense probably benign 0.12
R0732:Flot1 UTSW 17 36,136,416 (GRCm39) missense possibly damaging 0.91
R1745:Flot1 UTSW 17 36,135,552 (GRCm39) missense probably damaging 0.99
R4651:Flot1 UTSW 17 36,143,436 (GRCm39) utr 3 prime probably benign
R5007:Flot1 UTSW 17 36,135,267 (GRCm39) splice site probably benign
R6613:Flot1 UTSW 17 36,136,703 (GRCm39) missense probably damaging 0.99
R7145:Flot1 UTSW 17 36,135,835 (GRCm39) missense probably benign 0.03
R7378:Flot1 UTSW 17 36,136,405 (GRCm39) missense probably damaging 0.99
R8088:Flot1 UTSW 17 36,140,870 (GRCm39) missense probably damaging 0.98
R9053:Flot1 UTSW 17 36,140,859 (GRCm39) missense probably damaging 1.00
R9519:Flot1 UTSW 17 36,136,363 (GRCm39) missense possibly damaging 0.83
Z1176:Flot1 UTSW 17 36,136,715 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGCCAATGTGGAGGTCAG -3'
(R):5'- GAGATAGCTATGACTACCACCCATC -3'

Sequencing Primer
(F):5'- CCAATGTGGAGGTCAGATCTTC -3'
(R):5'- GAAGGCTTCTGCCTTCTT -3'
Posted On 2022-11-14