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 2610111M19Rik, LZ-FYVE, ZFYVE13, 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 62980223-63017210 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63002211 bp (GRCm38)
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: 144,613,845 H47N possibly damaging Het
Adgrg3 A T 8: 95,035,086 N159I possibly damaging Het
Agrn A T 4: 156,170,845 L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 G601S probably damaging Het
Atg2a A T 19: 6,250,244 E694V probably damaging Het
Ccndbp1 T A 2: 121,014,691 L363* probably null Het
Cdh16 A T 8: 104,618,064 D478E probably damaging Het
Cep295 A T 9: 15,334,956 W735R probably benign Het
Cnnm2 C T 19: 46,859,083 P682S probably benign Het
Daam2 C A 17: 49,460,710 R951L probably damaging Het
Dmxl1 T A 18: 49,851,476 F180I probably damaging Het
Dnajc6 T C 4: 101,599,034 probably benign Het
Efemp2 A T 19: 5,480,761 probably benign Het
Emilin1 A G 5: 30,917,066 D217G probably benign Het
Enpep A T 3: 129,276,771 M829K probably benign Het
Epb41l4a A G 18: 33,798,572 V623A probably damaging Het
Erlin2 T A 8: 27,027,166 probably null Het
Fbln2 T C 6: 91,256,995 probably null Het
Gga3 A T 11: 115,591,321 I157N probably damaging Het
Gm884 A G 11: 103,617,891 probably benign Het
Gtpbp6 C T 5: 110,107,311 probably benign Het
Hps4 T C 5: 112,375,368 V584A probably benign Het
Ighv1-50 T C 12: 115,119,947 Y51C probably benign Het
Kif13b T C 14: 64,806,154 L1801P probably benign Het
Kif16b T C 2: 142,848,003 I330V probably damaging Het
Klb A T 5: 65,348,490 R27W probably damaging Het
Lrif1 A T 3: 106,735,640 K169M probably damaging Het
Met A G 6: 17,549,059 D970G probably damaging Het
Mical3 A T 6: 120,969,387 M1051K possibly damaging Het
Mios A G 6: 8,215,094 N97D probably benign Het
Msh5 G A 17: 35,038,456 R321C probably damaging Het
Mybpc1 T C 10: 88,551,430 Q473R possibly damaging Het
Ncoa1 C T 12: 4,275,004 G970D probably damaging Het
Neb T C 2: 52,219,394 Y232C probably damaging Het
Nefh A G 11: 4,941,333 S429P probably damaging Het
Notch3 C T 17: 32,147,085 G1014D probably damaging Het
Nup107 A T 10: 117,751,418 C859S probably benign Het
Olfr1033 A G 2: 86,041,455 I47V probably benign Het
Olfr136 T G 17: 38,335,627 F157V probably benign Het
Olfr412 T C 11: 74,364,848 Y60H probably damaging Het
Otud7b T A 3: 96,136,510 probably benign Het
Pde1a A T 2: 79,878,139 S312T probably benign Het
Piwil1 G T 5: 128,740,981 R94L probably damaging Het
Pnma2 G A 14: 66,917,054 W309* probably null Het
Ppef2 A C 5: 92,228,740 probably null Het
Rabac1 T A 7: 24,969,967 Q212L possibly damaging Het
Rad51 T C 2: 119,120,492 probably benign Het
Rbm48 A T 5: 3,591,853 probably benign Het
Rft1 C T 14: 30,677,804 S315L probably benign Het
Rgs13 C T 1: 144,171,479 M1I probably null Het
Rhbg A C 3: 88,247,453 S215A probably benign Het
Slc17a1 T C 13: 23,880,654 L367P probably damaging Het
Slc25a39 G A 11: 102,403,675 R308C probably benign Het
Smo A G 6: 29,753,571 T149A probably benign Het
Sqle A G 15: 59,316,085 K81E probably benign Het
Tfpi A G 2: 84,452,555 probably null Het
Tnk2 A G 16: 32,679,630 D572G probably damaging Het
Ubr5 A T 15: 38,006,564 M1149K probably benign Het
Utrn T A 10: 12,727,758 Q626L probably damaging Het
Virma T A 4: 11,544,971 H1643Q probably damaging Het
Wnt3 G T 11: 103,808,205 G46C possibly damaging Het
Zkscan7 G T 9: 122,890,800 G184* probably null Het
Other mutations in Rufy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rufy2 APN 10 62991054 missense probably damaging 0.98
IGL01516:Rufy2 APN 10 63011433 missense possibly damaging 0.82
IGL02811:Rufy2 APN 10 63000327 missense probably damaging 1.00
IGL03244:Rufy2 APN 10 63004704 missense probably benign 0.08
PIT4434001:Rufy2 UTSW 10 62991066 missense possibly damaging 0.60
R0071:Rufy2 UTSW 10 62989167 missense possibly damaging 0.95
R0448:Rufy2 UTSW 10 63004736 missense probably benign
R0496:Rufy2 UTSW 10 62993170 missense probably damaging 1.00
R0723:Rufy2 UTSW 10 62998094 missense probably benign 0.43
R0731:Rufy2 UTSW 10 63011844 critical splice donor site probably benign
R1236:Rufy2 UTSW 10 62994770 missense probably benign 0.36
R1414:Rufy2 UTSW 10 63002199 nonsense probably null
R1600:Rufy2 UTSW 10 63006671 missense probably benign 0.00
R1626:Rufy2 UTSW 10 62995372 missense probably benign 0.43
R2035:Rufy2 UTSW 10 63006747 missense probably damaging 0.99
R2141:Rufy2 UTSW 10 62990994 missense probably damaging 1.00
R2962:Rufy2 UTSW 10 63000260 missense probably damaging 0.96
R3874:Rufy2 UTSW 10 62998137 missense probably damaging 1.00
R4206:Rufy2 UTSW 10 63004772 nonsense probably null
R4321:Rufy2 UTSW 10 62982680 missense probably damaging 1.00
R5636:Rufy2 UTSW 10 62997954 missense probably damaging 1.00
R7382:Rufy2 UTSW 10 62997969 missense probably benign 0.04
R7714:Rufy2 UTSW 10 63002993 missense probably benign 0.01
R8278:Rufy2 UTSW 10 63007693 missense probably benign 0.27
R8777:Rufy2 UTSW 10 62997881 missense possibly damaging 0.86
R8777-TAIL:Rufy2 UTSW 10 62997881 missense possibly damaging 0.86
R9181:Rufy2 UTSW 10 63000387 missense possibly damaging 0.94
R9756:Rufy2 UTSW 10 62982740 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