Incidental Mutation 'R4878:Rufy2'
ID 375070
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 042487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62816002-62852989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62837990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 379 (N379I)
Ref Sequence ENSEMBL: ENSMUSP00000113429 (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 damaging
Transcript: ENSMUST00000119567
AA Change: N379I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: N379I

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: N345I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: N345I

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 noncoding transcript
Transcript: ENSMUST00000129470
Predicted Effect possibly damaging
Transcript: ENSMUST00000131718
AA Change: N379I

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: N379I

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 possibly damaging
Transcript: ENSMUST00000143594
AA Change: N379I

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: N379I

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 noncoding transcript
Transcript: ENSMUST00000143726
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null 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
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
R7714:Rufy2 UTSW 10 62,838,772 (GRCm39) missense probably benign 0.01
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'- AGCCCCTGTTTGGTGCATAC -3'
(R):5'- CTTGGTTCCATGCAGCAACC -3'

Sequencing Primer
(F):5'- GGACTGATGCCTAAGCTGG -3'
(R):5'- AGACAAGGCCTGGCTTGG -3'
Posted On 2016-03-17