Incidental Mutation 'R6129:Rufy1'
ID 487582
Institutional Source Beutler Lab
Gene Symbol Rufy1
Ensembl Gene ENSMUSG00000020375
Gene Name RUN and FYVE domain containing 1
Synonyms Rabip4, ZFYVE12, 3000002E04Rik
MMRRC Submission 044276-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R6129 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50280113-50321952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50308075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 259 (L259Q)
Ref Sequence ENSEMBL: ENSMUSP00000020643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020643]
AlphaFold Q8BIJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000020643
AA Change: L259Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020643
Gene: ENSMUSG00000020375
AA Change: L259Q

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T A 11: 69,789,137 (GRCm39) Y354F probably damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Acsm2 G A 7: 119,190,470 (GRCm39) probably null Het
Adgrl1 A G 8: 84,645,616 (GRCm39) N80D probably damaging Het
Ankrd34a T A 3: 96,505,274 (GRCm39) Y159* probably null Het
Bcl2l2 G A 14: 55,122,202 (GRCm39) V122M possibly damaging Het
Brms1l A G 12: 55,914,970 (GRCm39) H293R probably benign Het
Ccn1 T C 3: 145,354,986 (GRCm39) I90V possibly damaging Het
Clec4b1 A G 6: 123,045,461 (GRCm39) T94A possibly damaging Het
Crim1 A G 17: 78,588,738 (GRCm39) D271G probably benign Het
Csmd2 G A 4: 128,387,127 (GRCm39) G2141S possibly damaging Het
Cspg4b T A 13: 113,505,340 (GRCm39) Y2156* probably null Het
Ctnnal1 C A 4: 56,829,573 (GRCm39) A419S possibly damaging Het
Cyp27a1 G A 1: 74,774,851 (GRCm39) R264H probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dsc2 T A 18: 20,178,487 (GRCm39) T306S possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermp1 A T 19: 29,600,609 (GRCm39) Y586N possibly damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm5114 C T 7: 39,058,024 (GRCm39) A532T possibly damaging Het
Gm5431 A G 11: 48,780,418 (GRCm39) L168P probably damaging Het
Hao2 T C 3: 98,787,842 (GRCm39) T196A probably benign Het
Hdac9 A C 12: 34,337,474 (GRCm39) L669R probably damaging Het
Hps5 A G 7: 46,421,198 (GRCm39) V755A probably benign Het
Jag2 G T 12: 112,883,969 (GRCm39) Y203* probably null Het
Lrrn3 G A 12: 41,503,787 (GRCm39) Q177* probably null Het
Me1 A T 9: 86,533,009 (GRCm39) V151E probably damaging Het
Mkx A G 18: 6,992,888 (GRCm39) V132A probably damaging Het
Mycbp2 A G 14: 103,522,836 (GRCm39) S643P probably benign Het
Mysm1 C A 4: 94,856,192 (GRCm39) R135L probably damaging Het
Nup210l T C 3: 90,011,483 (GRCm39) F4L probably benign Het
Pappa2 A T 1: 158,542,567 (GRCm39) C1773* probably null Het
Pcbp3 T C 10: 76,599,182 (GRCm39) E318G probably damaging Het
Pcdh12 T C 18: 38,410,912 (GRCm39) K984E probably damaging Het
Pcna-ps2 A G 19: 9,261,379 (GRCm39) N213D possibly damaging Het
Pde8b G A 13: 95,178,467 (GRCm39) A509V probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phf7 A G 14: 30,962,820 (GRCm39) Y137H probably damaging Het
Pkd1l1 A G 11: 8,818,543 (GRCm39) V1315A probably benign Het
Plxnd1 A G 6: 115,955,135 (GRCm39) C571R probably damaging Het
Ppp1r12b C T 1: 134,819,990 (GRCm39) W251* probably null Het
Prps1l1 A G 12: 35,035,329 (GRCm39) E148G probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Robo3 A G 9: 37,334,589 (GRCm39) Y592H probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rusc2 T C 4: 43,424,271 (GRCm39) F1112S probably damaging Het
Sap130 T C 18: 31,815,144 (GRCm39) V622A possibly damaging Het
Sptbn4 C A 7: 27,059,513 (GRCm39) C1124F probably damaging Het
Stk10 T A 11: 32,565,871 (GRCm39) C872S probably damaging Het
Tex15 A T 8: 34,064,158 (GRCm39) N1196I possibly damaging Het
Tnxa A G 17: 35,019,262 (GRCm39) probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zscan4b T A 7: 10,635,815 (GRCm39) T171S 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
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
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
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'- AAGTCCTTTGCACCCCTATCTTG -3'
(R):5'- CTCCAGGGTAGGTGCCAGT -3'

Sequencing Primer
(F):5'- TCTCCTTGCAACAGATGGAG -3'
(R):5'- TGCCAGTGGAAGGATCCTAGC -3'
Posted On 2017-10-10