Incidental Mutation 'R1591:Rufy1'
ID 175512
Institutional Source Beutler Lab
Gene Symbol Rufy1
Ensembl Gene ENSMUSG00000020375
Gene Name RUN and FYVE domain containing 1
Synonyms Rabip4, ZFYVE12, 3000002E04Rik
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R1591 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50280113-50321952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50285755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 621 (L621F)
Ref Sequence ENSEMBL: ENSMUSP00000020643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020643]
AlphaFold Q8BIJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000020643
AA Change: L621F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: L621F

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
low complexity region 83 111 N/A INTRINSIC
RUN 211 273 1.21e-21 SMART
coiled coil region 324 384 N/A INTRINSIC
coiled coil region 409 621 N/A INTRINSIC
FYVE 638 705 1.24e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135508
Meta Mutation Damage Score 0.0975 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Rufy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Rufy1 APN 11 50,282,850 (GRCm39) missense probably damaging 1.00
IGL01640:Rufy1 APN 11 50,281,205 (GRCm39) unclassified probably benign
IGL01829:Rufy1 APN 11 50,307,071 (GRCm39) nonsense probably null
IGL02559:Rufy1 APN 11 50,311,310 (GRCm39) missense probably damaging 1.00
IGL03409:Rufy1 APN 11 50,297,310 (GRCm39) missense probably benign 0.00
R0053:Rufy1 UTSW 11 50,292,292 (GRCm39) missense probably benign 0.10
R0053:Rufy1 UTSW 11 50,292,292 (GRCm39) missense probably benign 0.10
R0193:Rufy1 UTSW 11 50,280,679 (GRCm39) missense probably benign 0.12
R1028:Rufy1 UTSW 11 50,305,425 (GRCm39) splice site probably null
R1818:Rufy1 UTSW 11 50,305,399 (GRCm39) missense probably benign 0.43
R1952:Rufy1 UTSW 11 50,297,233 (GRCm39) missense probably benign 0.01
R2228:Rufy1 UTSW 11 50,288,611 (GRCm39) splice site probably null
R2982:Rufy1 UTSW 11 50,310,535 (GRCm39) missense possibly damaging 0.77
R4837:Rufy1 UTSW 11 50,292,320 (GRCm39) missense probably damaging 0.96
R4874:Rufy1 UTSW 11 50,297,277 (GRCm39) missense possibly damaging 0.80
R4959:Rufy1 UTSW 11 50,292,315 (GRCm39) missense probably benign
R4968:Rufy1 UTSW 11 50,301,434 (GRCm39) missense probably benign 0.01
R5204:Rufy1 UTSW 11 50,297,261 (GRCm39) missense probably damaging 1.00
R5426:Rufy1 UTSW 11 50,312,561 (GRCm39) missense probably damaging 1.00
R5966:Rufy1 UTSW 11 50,292,315 (GRCm39) missense probably benign
R6129:Rufy1 UTSW 11 50,308,075 (GRCm39) missense probably damaging 0.99
R6930:Rufy1 UTSW 11 50,289,207 (GRCm39) missense probably benign 0.05
R7073:Rufy1 UTSW 11 50,295,290 (GRCm39) missense probably benign 0.05
R7462:Rufy1 UTSW 11 50,298,655 (GRCm39) missense possibly damaging 0.93
R7646:Rufy1 UTSW 11 50,301,436 (GRCm39) missense probably damaging 1.00
R7951:Rufy1 UTSW 11 50,321,736 (GRCm39) missense probably benign
R7971:Rufy1 UTSW 11 50,312,498 (GRCm39) missense probably damaging 1.00
R8308:Rufy1 UTSW 11 50,297,233 (GRCm39) missense probably benign 0.01
R8773:Rufy1 UTSW 11 50,321,796 (GRCm39) missense possibly damaging 0.74
R8934:Rufy1 UTSW 11 50,298,705 (GRCm39) missense probably benign 0.00
R9205:Rufy1 UTSW 11 50,289,301 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTGTCACAATTCCCCAAGGCTCTG -3'
(R):5'- GGTGTGAAGTCATCCACCCACAAG -3'

Sequencing Primer
(F):5'- CAAGGCTCTGGTCATGAGG -3'
(R):5'- gtcaTCCACCCACAAGAGATGATAG -3'
Posted On 2014-04-24