Incidental Mutation 'IGL03409:Rufy1'
ID421719
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: 0.512) question?
Stock #IGL03409
Quality Score
Status
Chromosome11
Chromosomal Location50389286-50431125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50406483 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 381 (I381L)
Ref Sequence ENSEMBL: ENSMUSP00000020643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020643]
Predicted Effect probably benign
Transcript: ENSMUST00000020643
AA Change: I381L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: I381L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging 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
IGL01829:Rufy1 APN 11 50416244 nonsense probably null
IGL02559:Rufy1 APN 11 50420483 missense probably damaging 1.00
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
Posted On2016-08-02