Incidental Mutation 'IGL01640:Rufy1'
ID93121
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 #IGL01640
Quality Score
Status
Chromosome11
Chromosomal Location50389286-50431125 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 50390378 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020643] [ENSMUST00000069304] [ENSMUST00000077817] [ENSMUST00000109142]
Predicted Effect probably benign
Transcript: ENSMUST00000020643
SMART Domains Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375

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 probably benign
Transcript: ENSMUST00000069304
SMART Domains Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850

DomainStartEndE-ValueType
RRM 12 86 3.77e-10 SMART
RRM 112 184 2.59e-8 SMART
low complexity region 236 254 N/A INTRINSIC
RRM 290 360 1.45e-11 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077817
SMART Domains Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850

DomainStartEndE-ValueType
RRM 12 86 3.77e-10 SMART
RRM 112 184 2.59e-8 SMART
low complexity region 236 254 N/A INTRINSIC
RRM 290 360 1.45e-11 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 437 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109142
SMART Domains Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850

DomainStartEndE-ValueType
RRM 12 86 3.77e-10 SMART
RRM 112 184 2.59e-8 SMART
low complexity region 236 254 N/A INTRINSIC
RRM 290 360 1.45e-11 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156642
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,579,938 T3A probably damaging Het
4933402N03Rik A T 7: 131,139,119 S123T possibly damaging Het
Adamts17 A T 7: 67,029,680 T559S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Arel1 G A 12: 84,920,701 T783M probably damaging Het
B3gntl1 C T 11: 121,673,020 E5K probably benign Het
Faf1 T A 4: 109,840,403 F309I probably damaging Het
Fhod3 T G 18: 25,115,793 M1343R probably benign Het
Fnbp1 A G 2: 31,105,291 F44L probably damaging Het
Gm3633 A T 14: 42,638,367 Y206* probably null Het
Gprc6a A C 10: 51,627,084 F228V probably damaging Het
Il31ra T C 13: 112,531,758 I453V possibly damaging Het
Kif2a A G 13: 106,974,552 I529T probably damaging Het
Lrrc19 C T 4: 94,638,508 V271I probably damaging Het
Ncaph2 A G 15: 89,363,838 probably null Het
Nek5 A G 8: 22,120,840 I49T probably benign Het
Nhlrc3 A T 3: 53,453,537 probably benign Het
Olfr616 A G 7: 103,565,021 V86A probably damaging Het
Olfr659 A T 7: 104,671,664 S321C probably damaging Het
Olfr945 C A 9: 39,258,263 M136I probably damaging Het
Pcnx2 T C 8: 125,801,558 T1308A probably benign Het
Pla2g6 T C 15: 79,304,313 N448S probably benign Het
Pole T A 5: 110,298,266 L571Q probably null Het
Sftpd C A 14: 41,172,635 A276S probably benign Het
Slc35f4 A C 14: 49,318,768 V176G probably damaging Het
Snrpb T C 2: 130,175,331 D89G probably benign Het
Stab2 A T 10: 86,954,171 V577D probably benign Het
Synrg A C 11: 83,981,508 S152R probably damaging Het
Tcrg-V7 T C 13: 19,178,090 probably benign Het
Trpm1 A G 7: 64,226,897 E682G probably damaging Het
Unc80 T C 1: 66,679,585 I2989T probably benign Het
Vmn1r116 A G 7: 20,872,448 T65A probably benign Het
Zfp469 G A 8: 122,271,270 probably benign Het
Other mutations in Rufy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Rufy1 APN 11 50392023 missense probably damaging 1.00
IGL01829:Rufy1 APN 11 50416244 nonsense probably null
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 On2013-12-09