Incidental Mutation 'R1745:Flot1'
ID 193953
Institutional Source Beutler Lab
Gene Symbol Flot1
Ensembl Gene ENSMUSG00000059714
Gene Name flotillin 1
Synonyms reggie-2
MMRRC Submission 039777-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R1745 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36134243-36143674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36135552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 102 (E102G)
Ref Sequence ENSEMBL: ENSMUSP00000134699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001569] [ENSMUST00000003635] [ENSMUST00000172846] [ENSMUST00000173147] [ENSMUST00000173493] [ENSMUST00000173628] [ENSMUST00000174080]
AlphaFold O08917
Predicted Effect probably damaging
Transcript: ENSMUST00000001569
AA Change: E102G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001569
Gene: ENSMUSG00000059714
AA Change: E102G

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: ENSMUST00000003635
Predicted Effect probably damaging
Transcript: ENSMUST00000172846
AA Change: E102G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134681
Gene: ENSMUSG00000059714
AA Change: E102G

DomainStartEndE-ValueType
PHB 1 168 1.02e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173147
AA Change: E102G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133454
Gene: ENSMUSG00000059714
AA Change: E102G

DomainStartEndE-ValueType
PHB 1 168 1.02e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173337
Predicted Effect probably damaging
Transcript: ENSMUST00000173493
AA Change: E102G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134699
Gene: ENSMUSG00000059714
AA Change: E102G

DomainStartEndE-ValueType
PHB 1 168 1.02e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174227
Predicted Effect probably benign
Transcript: ENSMUST00000174080
SMART Domains Protein: ENSMUSP00000134227
Gene: ENSMUSG00000059714

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
Meta Mutation Damage Score 0.6031 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,359 (GRCm39) V851E probably benign Het
Adam28 A G 14: 68,870,620 (GRCm39) I351T probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap2a1 T C 7: 44,556,369 (GRCm39) E285G probably damaging Het
Arfgef1 A C 1: 10,243,480 (GRCm39) I1023R probably damaging Het
Atp2c2 G A 8: 120,451,833 (GRCm39) V133I probably benign Het
Bpifb6 A G 2: 153,753,403 (GRCm39) T401A possibly damaging Het
Capn3 G A 2: 120,320,170 (GRCm39) V283M possibly damaging Het
Chd6 A T 2: 160,823,587 (GRCm39) V1261E probably damaging Het
Col22a1 C T 15: 71,878,636 (GRCm39) A174T probably damaging Het
Crnn T C 3: 93,054,198 (GRCm39) V27A probably benign Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkd T C 1: 87,859,766 (GRCm39) probably null Het
Diaph3 A G 14: 87,203,996 (GRCm39) L554P probably damaging Het
Ephb4 A T 5: 137,358,696 (GRCm39) H293L probably benign Het
Erbin G T 13: 103,975,957 (GRCm39) H646N probably damaging Het
Faiml T C 9: 99,116,511 (GRCm39) N60D probably benign Het
Fem1al A G 11: 29,774,723 (GRCm39) S245P probably benign Het
Fryl G A 5: 73,190,204 (GRCm39) probably benign Het
Gad1-ps A T 10: 99,281,386 (GRCm39) noncoding transcript Het
Gtf3c3 A G 1: 54,473,371 (GRCm39) S81P probably damaging Het
Hs1bp3 C T 12: 8,371,690 (GRCm39) Q91* probably null Het
Igf1r T C 7: 67,819,661 (GRCm39) C324R probably damaging Het
Il23r G A 6: 67,443,275 (GRCm39) T276I probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Kctd1 A T 18: 15,196,263 (GRCm39) probably benign Het
Kmt2b A T 7: 30,285,275 (GRCm39) M539K possibly damaging Het
Man2b1 T A 8: 85,820,563 (GRCm39) F617I probably damaging Het
Med15 G A 16: 17,473,570 (GRCm39) probably benign Het
Myo9b A G 8: 71,806,691 (GRCm39) K1543R probably damaging Het
N4bp2 A G 5: 65,948,165 (GRCm39) Y265C probably benign Het
N4bp2l2 A T 5: 150,585,424 (GRCm39) N185K probably benign Het
Nkx2-1 A G 12: 56,580,529 (GRCm39) M137T probably benign Het
Or51q1c A G 7: 103,653,270 (GRCm39) T269A probably benign Het
Prickle2 A T 6: 92,353,574 (GRCm39) Y631N probably damaging Het
Ptpro A G 6: 137,377,643 (GRCm39) T698A probably benign Het
Rapgef3 T C 15: 97,648,059 (GRCm39) I690V probably benign Het
Rnf44 G A 13: 54,830,005 (GRCm39) R271W probably damaging Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Ryr2 A G 13: 11,805,153 (GRCm39) Y904H probably damaging Het
Suz12 T C 11: 79,912,922 (GRCm39) L322P probably damaging Het
Tnfsf13 G A 11: 69,575,973 (GRCm39) A38V probably benign Het
Topbp1 G A 9: 103,186,044 (GRCm39) R62H probably benign Het
Tor1aip1 G T 1: 155,906,180 (GRCm39) probably null Het
Trpv4 A T 5: 114,771,215 (GRCm39) V438E probably damaging Het
Tsku A T 7: 98,001,386 (GRCm39) V315E possibly damaging Het
Ttc38 T C 15: 85,717,373 (GRCm39) L16P probably damaging Het
Vmn1r170 A G 7: 23,305,759 (GRCm39) I54V probably damaging Het
Vmn1r71 T C 7: 10,482,196 (GRCm39) D98G probably benign Het
Wdfy3 A T 5: 102,096,795 (GRCm39) D334E probably damaging Het
Zfhx3 T A 8: 109,682,494 (GRCm39) F3311Y unknown Het
Zswim9 A G 7: 13,003,482 (GRCm39) S123P 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
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
R9766:Flot1 UTSW 17 36,141,555 (GRCm39) nonsense probably null
Z1176:Flot1 UTSW 17 36,136,715 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTGAAAAGGTTTATACCCGCCACG -3'
(R):5'- ATACCCATGTTGACCAGGTCGGAG -3'

Sequencing Primer
(F):5'- ATCTCAGTCACGGGCATTG -3'
(R):5'- CACTTTGAAAACCTGCTCTGAG -3'
Posted On 2014-05-23