Incidental Mutation 'R8137:Rbsn'
ID 632301
Institutional Source Beutler Lab
Gene Symbol Rbsn
Ensembl Gene ENSMUSG00000014550
Gene Name rabenosyn, RAB effector
Synonyms Rabenosyn-5, 5330426D11Rik, Zfyve20
MMRRC Submission 067565-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8137 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 92163693-92191874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92167003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 547 (V547D)
Ref Sequence ENSEMBL: ENSMUSP00000014694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014694]
AlphaFold Q80Y56
Predicted Effect probably benign
Transcript: ENSMUST00000014694
AA Change: V547D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: V547D

DomainStartEndE-ValueType
ZnF_C2H2 14 37 4.45e0 SMART
low complexity region 53 64 N/A INTRINSIC
FYVE 148 260 2e-10 SMART
coiled coil region 377 412 N/A INTRINSIC
Pfam:Rbsn 457 498 9e-21 PFAM
low complexity region 512 535 N/A INTRINSIC
Pfam:NPF 547 736 2.3e-61 PFAM
Pfam:Rbsn 737 778 6.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124635
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 96.4%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 T G 11: 89,344,003 (GRCm39) Q326H probably benign Het
Carf G A 1: 60,187,124 (GRCm39) V576I probably benign Het
Ccnl1 C T 3: 65,865,291 (GRCm39) D87N possibly damaging Het
Cgref1 T A 5: 31,091,749 (GRCm39) D111V possibly damaging Het
Cnot4 G A 6: 35,023,222 (GRCm39) P567S unknown Het
Cyp7b1 A T 3: 18,151,765 (GRCm39) D149E probably benign Het
Dcc A T 18: 71,511,783 (GRCm39) D877E probably benign Het
Dhx8 T A 11: 101,654,808 (GRCm39) I1032N probably damaging Het
Dnah7b A G 1: 46,272,913 (GRCm39) Y2347C probably damaging Het
Dtx3 A G 10: 127,029,041 (GRCm39) S63P possibly damaging Het
Dyrk2 C T 10: 118,695,789 (GRCm39) E490K probably benign Het
Fcgbp A C 7: 27,804,496 (GRCm39) Y1868S probably damaging Het
Foxa2 T C 2: 147,885,768 (GRCm39) H355R probably benign Het
Fpr-rs7 A G 17: 20,334,055 (GRCm39) V145A possibly damaging Het
Gm14137 A T 2: 119,005,837 (GRCm39) E132V probably benign Het
Gpn2 T C 4: 133,315,873 (GRCm39) S211P possibly damaging Het
Greb1l A T 18: 10,474,357 (GRCm39) Q224L possibly damaging Het
Gspt1 A G 16: 11,058,532 (GRCm39) V144A probably benign Het
Ifi204 A G 1: 173,589,188 (GRCm39) I81T possibly damaging Het
Il27ra T A 8: 84,767,720 (GRCm39) probably null Het
Kif21a T C 15: 90,852,645 (GRCm39) T862A probably benign Het
Klf2 T C 8: 73,074,088 (GRCm39) probably null Het
Kmt2e A G 5: 23,706,952 (GRCm39) Y1505C probably damaging Het
Mcm9 T C 10: 53,499,076 (GRCm39) T216A Het
Muc16 T C 9: 18,556,972 (GRCm39) E3107G unknown Het
Ncor2 C T 5: 125,114,957 (GRCm39) V169I Het
Oas3 T C 5: 120,915,565 (GRCm39) Q42R probably benign Het
Or2l5 A G 16: 19,333,846 (GRCm39) V180A possibly damaging Het
Or4p8 T C 2: 88,727,013 (GRCm39) *309W probably null Het
Pde10a A G 17: 9,193,647 (GRCm39) Y693C possibly damaging Het
Pde11a T C 2: 76,041,383 (GRCm39) E429G possibly damaging Het
Pramel23 A G 4: 143,425,835 (GRCm39) F36S probably damaging Het
Pygo1 A G 9: 72,852,140 (GRCm39) H109R probably damaging Het
Ros1 A G 10: 52,001,933 (GRCm39) I1084T possibly damaging Het
Sis T C 3: 72,796,378 (GRCm39) D1801G probably benign Het
Slco4c1 C T 1: 96,748,970 (GRCm39) G649E probably damaging Het
Spmip10 A G 18: 56,727,653 (GRCm39) D117G probably damaging Het
Sptbn2 A T 19: 4,787,431 (GRCm39) I914F possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Strc C T 2: 121,197,219 (GRCm39) G1503R probably damaging Het
Sv2c T A 13: 96,225,171 (GRCm39) Y46F probably damaging Het
Tctn3 A T 19: 40,593,785 (GRCm39) W462R probably damaging Het
Tjp3 T C 10: 81,109,525 (GRCm39) D857G probably benign Het
Tor1aip2 C T 1: 155,939,414 (GRCm39) T242I possibly damaging Het
Ttn T A 2: 76,800,273 (GRCm39) I312F unknown Het
Vezt T C 10: 93,775,154 (GRCm39) N94D Het
Vmn2r105 T C 17: 20,454,966 (GRCm39) N57D probably benign Het
Wdr59 T C 8: 112,212,011 (GRCm39) D353G Het
Ykt6 T C 11: 5,909,368 (GRCm39) V59A probably damaging Het
Ypel3 T G 7: 126,377,269 (GRCm39) V54G possibly damaging Het
Zfp386 T A 12: 116,023,268 (GRCm39) C329S possibly damaging Het
Zfp451 A T 1: 33,821,156 (GRCm39) L232H possibly damaging Het
Zfp648 A G 1: 154,081,110 (GRCm39) H423R probably damaging Het
Zfp729b T C 13: 67,740,861 (GRCm39) Y468C probably damaging Het
Other mutations in Rbsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Rbsn APN 6 92,184,100 (GRCm39) missense possibly damaging 0.82
IGL02073:Rbsn APN 6 92,166,340 (GRCm39) missense probably damaging 1.00
IGL02962:Rbsn APN 6 92,167,307 (GRCm39) missense probably benign 0.00
R0172:Rbsn UTSW 6 92,188,588 (GRCm39) missense probably damaging 0.99
R0735:Rbsn UTSW 6 92,166,674 (GRCm39) missense probably benign 0.01
R0909:Rbsn UTSW 6 92,166,791 (GRCm39) nonsense probably null
R1146:Rbsn UTSW 6 92,178,711 (GRCm39) critical splice donor site probably null
R1146:Rbsn UTSW 6 92,178,711 (GRCm39) critical splice donor site probably null
R1728:Rbsn UTSW 6 92,167,000 (GRCm39) missense possibly damaging 0.69
R1729:Rbsn UTSW 6 92,167,000 (GRCm39) missense possibly damaging 0.69
R1784:Rbsn UTSW 6 92,167,000 (GRCm39) missense possibly damaging 0.69
R2135:Rbsn UTSW 6 92,166,854 (GRCm39) missense probably benign
R2183:Rbsn UTSW 6 92,166,618 (GRCm39) missense probably benign 0.02
R2324:Rbsn UTSW 6 92,170,947 (GRCm39) missense probably damaging 1.00
R2890:Rbsn UTSW 6 92,184,104 (GRCm39) missense possibly damaging 0.52
R3729:Rbsn UTSW 6 92,168,316 (GRCm39) missense possibly damaging 0.81
R4007:Rbsn UTSW 6 92,166,800 (GRCm39) missense probably benign 0.00
R4356:Rbsn UTSW 6 92,184,029 (GRCm39) missense possibly damaging 0.47
R5027:Rbsn UTSW 6 92,175,231 (GRCm39) missense probably damaging 1.00
R5364:Rbsn UTSW 6 92,170,958 (GRCm39) missense probably damaging 0.96
R5787:Rbsn UTSW 6 92,176,797 (GRCm39) missense possibly damaging 0.81
R7092:Rbsn UTSW 6 92,166,607 (GRCm39) missense probably damaging 1.00
R7134:Rbsn UTSW 6 92,178,608 (GRCm39) missense probably damaging 1.00
R7165:Rbsn UTSW 6 92,168,315 (GRCm39) missense probably benign 0.10
R9063:Rbsn UTSW 6 92,171,000 (GRCm39) missense probably benign 0.45
R9261:Rbsn UTSW 6 92,166,797 (GRCm39) missense probably benign
R9452:Rbsn UTSW 6 92,178,745 (GRCm39) missense possibly damaging 0.92
R9609:Rbsn UTSW 6 92,179,565 (GRCm39) missense probably damaging 0.96
R9678:Rbsn UTSW 6 92,188,619 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGCCTTATCACTTTGCTGTG -3'
(R):5'- CTGCAGGATGAGTATGACCAGC -3'

Sequencing Primer
(F):5'- CACTTTGCTGTGACATGGTGCTC -3'
(R):5'- TGAGTATGACCAGCAGCAGAC -3'
Posted On 2020-06-30