Incidental Mutation 'IGL01829:Rufy1'
ID 154731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rufy1
Ensembl Gene ENSMUSG00000020375
Gene Name RUN and FYVE domain containing 1
Synonyms Rabip4, ZFYVE12, 3000002E04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # IGL01829
Quality Score
Status
Chromosome 11
Chromosomal Location 50280113-50321952 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 50307071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 300 (R300*)
Ref Sequence ENSEMBL: ENSMUSP00000020643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020643]
AlphaFold Q8BIJ7
Predicted Effect probably null
Transcript: ENSMUST00000020643
AA Change: R300*
SMART Domains Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: R300*

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: ENSMUST00000129304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135508
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bod1l A G 5: 41,977,811 (GRCm39) S1168P probably benign Het
Csn1s2a A T 5: 87,934,569 (GRCm39) T173S unknown Het
Dchs1 T A 7: 105,404,604 (GRCm39) D2646V probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah7a G T 1: 53,657,227 (GRCm39) R850S possibly damaging Het
Dock2 T C 11: 34,596,668 (GRCm39) D396G probably damaging Het
E2f7 A G 10: 110,614,955 (GRCm39) Y553C probably benign Het
Elf2 A G 3: 51,215,521 (GRCm39) M63T probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Kcnk13 T A 12: 100,027,257 (GRCm39) probably benign Het
Nr1h5 T A 3: 102,856,395 (GRCm39) I295L probably benign Het
Or9s23 A T 1: 92,501,051 (GRCm39) I53F probably benign Het
Ptprk A G 10: 28,449,383 (GRCm39) H986R probably damaging Het
Sfxn4 C A 19: 60,847,172 (GRCm39) S37I probably damaging Het
Slc12a9 A T 5: 137,325,627 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,541,180 (GRCm39) I224T possibly damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Stard9 A G 2: 120,536,927 (GRCm39) K4233E possibly damaging Het
Trp53bp1 A T 2: 121,046,377 (GRCm39) M1141K probably benign Het
Ttn T C 2: 76,612,011 (GRCm39) D17297G probably damaging Het
Vmn1r12 T C 6: 57,136,649 (GRCm39) Y205H probably damaging Het
Vmn1r77 A G 7: 11,775,358 (GRCm39) K45E probably damaging Het
Vmn2r129 T C 4: 156,685,614 (GRCm39) noncoding transcript Het
Vps13a T C 19: 16,596,807 (GRCm39) T3104A probably benign 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
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
R1591:Rufy1 UTSW 11 50,285,755 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-02-04