Incidental Mutation 'IGL01829:Rufy1'
ID154731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rufy1
Ensembl Gene ENSMUSG00000020375
Gene NameRUN and FYVE domain containing 1
SynonymsZFYVE12, 3000002E04Rik, Rabip4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.586) question?
Stock #IGL01829
Quality Score
Status
Chromosome11
Chromosomal Location50389286-50431125 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 50416244 bp
ZygosityHeterozygous
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]
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: 41,820,468 S1168P probably benign Het
Csn1s2a A T 5: 87,786,710 T173S unknown Het
Dchs1 T A 7: 105,755,397 D2646V probably damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah7a G T 1: 53,618,068 R850S possibly damaging Het
Dock2 T C 11: 34,705,841 D396G probably damaging Het
E2f7 A G 10: 110,779,094 Y553C probably benign Het
Elf2 A G 3: 51,308,100 M63T probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Kcnk13 T A 12: 100,060,998 probably benign Het
Nr1h5 T A 3: 102,949,079 I295L probably benign Het
Olfr1413 A T 1: 92,573,329 I53F probably benign Het
Ptprk A G 10: 28,573,387 H986R probably damaging Het
Sfxn4 C A 19: 60,858,734 S37I probably damaging Het
Slc12a9 A T 5: 137,327,365 probably benign Het
Slc37a1 T C 17: 31,322,206 I224T possibly damaging Het
Slc6a6 T C 6: 91,735,189 F233S probably damaging Het
Stard9 A G 2: 120,706,446 K4233E possibly damaging Het
Trp53bp1 A T 2: 121,215,896 M1141K probably benign Het
Ttn T C 2: 76,781,667 D17297G probably damaging Het
Vmn1r12 T C 6: 57,159,664 Y205H probably damaging Het
Vmn1r77 A G 7: 12,041,431 K45E probably damaging Het
Vmn2r-ps159 T C 4: 156,333,319 noncoding transcript Het
Vps13a T C 19: 16,619,443 T3104A probably benign Het
Other mutations in Rufy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Rufy1 APN 11 50392023 missense probably damaging 1.00
IGL01640:Rufy1 APN 11 50390378 unclassified probably benign
IGL02559:Rufy1 APN 11 50420483 missense probably damaging 1.00
IGL03409:Rufy1 APN 11 50406483 missense probably benign 0.00
R0053:Rufy1 UTSW 11 50401465 missense probably benign 0.10
R0053:Rufy1 UTSW 11 50401465 missense probably benign 0.10
R0193:Rufy1 UTSW 11 50389852 missense probably benign 0.12
R1028:Rufy1 UTSW 11 50414598 intron probably null
R1591:Rufy1 UTSW 11 50394928 missense probably damaging 1.00
R1818:Rufy1 UTSW 11 50414572 missense probably benign 0.43
R1952:Rufy1 UTSW 11 50406406 missense probably benign 0.01
R2228:Rufy1 UTSW 11 50397784 splice site probably null
R2982:Rufy1 UTSW 11 50419708 missense possibly damaging 0.77
R4837:Rufy1 UTSW 11 50401493 missense probably damaging 0.96
R4874:Rufy1 UTSW 11 50406450 missense possibly damaging 0.80
R4959:Rufy1 UTSW 11 50401488 missense probably benign
R4968:Rufy1 UTSW 11 50410607 missense probably benign 0.01
R5204:Rufy1 UTSW 11 50406434 missense probably damaging 1.00
R5426:Rufy1 UTSW 11 50421734 missense probably damaging 1.00
R5966:Rufy1 UTSW 11 50401488 missense probably benign
R6129:Rufy1 UTSW 11 50417248 missense probably damaging 0.99
R6930:Rufy1 UTSW 11 50398380 missense probably benign 0.05
R7073:Rufy1 UTSW 11 50404463 missense probably benign 0.05
R7462:Rufy1 UTSW 11 50407828 missense possibly damaging 0.93
R7646:Rufy1 UTSW 11 50410609 missense probably damaging 1.00
Posted On2014-02-04