Incidental Mutation 'R7714:Rufy2'
ID 594796
Institutional Source Beutler Lab
Gene Symbol Rufy2
Ensembl Gene ENSMUSG00000020070
Gene Name RUN and FYVE domain-containing 2
Synonyms ZFYVE13, 2610111M19Rik, LZ-FYVE, Denn
MMRRC Submission 045772-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7714 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62816002-62852989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62838772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 418 (V418E)
Ref Sequence ENSEMBL: ENSMUSP00000121419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062600] [ENSMUST00000119567] [ENSMUST00000122231] [ENSMUST00000131718] [ENSMUST00000143594]
AlphaFold Q8R4C2
Predicted Effect probably benign
Transcript: ENSMUST00000062600
SMART Domains Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119567
SMART Domains Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 515 N/A INTRINSIC
FYVE 532 599 6.99e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122231
AA Change: V384E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: V384E

DomainStartEndE-ValueType
Pfam:RUN 45 100 6.2e-9 PFAM
low complexity region 110 123 N/A INTRINSIC
coiled coil region 176 234 N/A INTRINSIC
coiled coil region 292 372 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131718
AA Change: V418E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: V418E

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 406 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143594
AA Change: V418E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: V418E

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 406 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,587 (GRCm39) probably null Het
Agrn C A 4: 156,279,854 (GRCm39) D106Y probably damaging Het
Arfgap3 A T 15: 83,192,352 (GRCm39) Y416N probably benign Het
Atp6v0a2 C T 5: 124,775,533 (GRCm39) T135M probably damaging Het
Bach1 C A 16: 87,515,736 (GRCm39) Y92* probably null Het
Catsperg1 A C 7: 28,884,907 (GRCm39) C905G probably null Het
Cbr2 T C 11: 120,620,628 (GRCm39) I219V probably benign Het
Ccdc3 A T 2: 5,233,908 (GRCm39) K244I probably damaging Het
Cd226 T C 18: 89,265,433 (GRCm39) V237A probably damaging Het
Chek2 T C 5: 110,989,319 (GRCm39) C81R probably benign Het
Col27a1 T C 4: 63,242,723 (GRCm39) probably null Het
Cracdl T A 1: 37,663,858 (GRCm39) Q680L probably benign Het
Crybg3 A T 16: 59,379,236 (GRCm39) S673T probably benign Het
Csmd2 T A 4: 128,276,743 (GRCm39) Y848* probably null Het
Dgkb C A 12: 38,680,592 (GRCm39) T764K probably damaging Het
Dock4 T A 12: 40,775,648 (GRCm39) C530* probably null Het
Dpyd A G 3: 118,597,780 (GRCm39) K254R probably benign Het
Dstyk C T 1: 132,384,614 (GRCm39) P703S possibly damaging Het
Ehhadh A T 16: 21,585,140 (GRCm39) I247N probably damaging Het
Fer1l5 T G 1: 36,440,558 (GRCm39) L597R probably damaging Het
Fignl1 T C 11: 11,752,842 (GRCm39) E71G probably damaging Het
Fnip2 A C 3: 79,425,421 (GRCm39) V58G probably damaging Het
Gapdhs A T 7: 30,431,349 (GRCm39) I377N probably damaging Het
Gcn1 C T 5: 115,733,359 (GRCm39) A1059V probably damaging Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Grik2 A C 10: 49,295,792 (GRCm39) I392S probably damaging Het
Hoxb3 T C 11: 96,236,606 (GRCm39) L228P probably damaging Het
Iws1 A T 18: 32,223,568 (GRCm39) M659L probably benign Het
Kmt2c A G 5: 25,580,364 (GRCm39) C570R probably benign Het
Lamc3 T A 2: 31,812,279 (GRCm39) probably null Het
Lipf G A 19: 33,943,048 (GRCm39) G119R probably damaging Het
Lrrc37 T C 11: 103,507,719 (GRCm39) I1416M unknown Het
Magel2 A T 7: 62,028,130 (GRCm39) I345L probably benign Het
Mdn1 G A 4: 32,722,360 (GRCm39) A2381T possibly damaging Het
Med12l T C 3: 59,001,007 (GRCm39) V690A probably benign Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Mob3b A G 4: 35,083,872 (GRCm39) Y106H probably damaging Het
Myo1c T C 11: 75,549,519 (GRCm39) Y166H probably damaging Het
Ndst4 A T 3: 125,364,493 (GRCm39) H390L probably benign Het
Nt5c1b T A 12: 10,425,472 (GRCm39) N280K probably damaging Het
Or10aa1 G A 1: 173,869,900 (GRCm39) R128H probably benign Het
Or5b116 A T 19: 13,423,252 (GRCm39) N292I probably damaging Het
Otof A G 5: 30,527,597 (GRCm39) F1947L probably damaging Het
Pabpc4 G A 4: 123,189,102 (GRCm39) A481T probably benign Het
Parm1 C T 5: 91,741,791 (GRCm39) T53I possibly damaging Het
Pilra C T 5: 137,833,679 (GRCm39) R129Q probably benign Het
Pkd1 C T 17: 24,769,250 (GRCm39) A5V unknown Het
Pmch T C 10: 87,927,242 (GRCm39) S82P probably benign Het
Prf1 G A 10: 61,135,934 (GRCm39) R70H possibly damaging Het
Rad51c T C 11: 87,292,276 (GRCm39) S180G probably benign Het
Rassf8 A C 6: 145,760,973 (GRCm39) T100P probably damaging Het
Rnpepl1 A G 1: 92,844,890 (GRCm39) E394G probably damaging Het
Sdad1 A T 5: 92,450,538 (GRCm39) V199D probably damaging Het
Sptbn4 A T 7: 27,063,761 (GRCm39) S2227T probably benign Het
Tac4 A G 11: 95,156,116 (GRCm39) M66V probably benign Het
Tas2r126 T C 6: 42,412,031 (GRCm39) V188A probably benign Het
Tcerg1 T C 18: 42,694,000 (GRCm39) V707A possibly damaging Het
Tmem273 A G 14: 32,527,129 (GRCm39) E32G possibly damaging Het
Trav13d-4 G A 14: 53,995,355 (GRCm39) G103D probably damaging Het
Trav8d-1 A G 14: 53,016,380 (GRCm39) S89G probably benign Het
Ttll4 C T 1: 74,718,572 (GRCm39) S141L probably benign Het
Vash1 T C 12: 86,738,614 (GRCm39) S354P probably benign Het
Vmn2r40 T A 7: 8,911,116 (GRCm39) I726F Het
Vmn2r53 A C 7: 12,340,418 (GRCm39) N18K probably damaging Het
Wnt6 T C 1: 74,823,422 (GRCm39) F253S probably damaging Het
Zfp599 A G 9: 22,161,811 (GRCm39) I118T probably benign Het
Other mutations in Rufy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rufy2 APN 10 62,826,833 (GRCm39) missense probably damaging 0.98
IGL01516:Rufy2 APN 10 62,847,212 (GRCm39) missense possibly damaging 0.82
IGL02811:Rufy2 APN 10 62,836,106 (GRCm39) missense probably damaging 1.00
IGL03244:Rufy2 APN 10 62,840,483 (GRCm39) missense probably benign 0.08
PIT4434001:Rufy2 UTSW 10 62,826,845 (GRCm39) missense possibly damaging 0.60
R0071:Rufy2 UTSW 10 62,824,946 (GRCm39) missense possibly damaging 0.95
R0448:Rufy2 UTSW 10 62,840,515 (GRCm39) missense probably benign
R0496:Rufy2 UTSW 10 62,828,949 (GRCm39) missense probably damaging 1.00
R0723:Rufy2 UTSW 10 62,833,873 (GRCm39) missense probably benign 0.43
R0731:Rufy2 UTSW 10 62,847,623 (GRCm39) critical splice donor site probably benign
R1236:Rufy2 UTSW 10 62,830,549 (GRCm39) missense probably benign 0.36
R1414:Rufy2 UTSW 10 62,837,978 (GRCm39) nonsense probably null
R1600:Rufy2 UTSW 10 62,842,450 (GRCm39) missense probably benign 0.00
R1626:Rufy2 UTSW 10 62,831,151 (GRCm39) missense probably benign 0.43
R2035:Rufy2 UTSW 10 62,842,526 (GRCm39) missense probably damaging 0.99
R2141:Rufy2 UTSW 10 62,826,773 (GRCm39) missense probably damaging 1.00
R2962:Rufy2 UTSW 10 62,836,039 (GRCm39) missense probably damaging 0.96
R3874:Rufy2 UTSW 10 62,833,916 (GRCm39) missense probably damaging 1.00
R4206:Rufy2 UTSW 10 62,840,551 (GRCm39) nonsense probably null
R4321:Rufy2 UTSW 10 62,818,459 (GRCm39) missense probably damaging 1.00
R4878:Rufy2 UTSW 10 62,837,990 (GRCm39) missense probably damaging 1.00
R5636:Rufy2 UTSW 10 62,833,733 (GRCm39) missense probably damaging 1.00
R7382:Rufy2 UTSW 10 62,833,748 (GRCm39) missense probably benign 0.04
R8278:Rufy2 UTSW 10 62,843,472 (GRCm39) missense probably benign 0.27
R8777:Rufy2 UTSW 10 62,833,660 (GRCm39) missense possibly damaging 0.86
R8777-TAIL:Rufy2 UTSW 10 62,833,660 (GRCm39) missense possibly damaging 0.86
R9181:Rufy2 UTSW 10 62,836,166 (GRCm39) missense possibly damaging 0.94
R9756:Rufy2 UTSW 10 62,818,519 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCACGTTGAGTCAACATGTGTC -3'
(R):5'- TTGTGCACAAGGCTGAGGAG -3'

Sequencing Primer
(F):5'- GAGTCAACATGTGTCACCATTGC -3'
(R):5'- AGTGCACGTGAGGAGCC -3'
Posted On 2019-11-12