Incidental Mutation 'R8137:Rbsn'
ID632301
Institutional Source Beutler Lab
Gene Symbol Rbsn
Ensembl Gene ENSMUSG00000014550
Gene Namerabenosyn, RAB effector
Synonyms5330426D11Rik, Rabenosyn-5, Zfyve20
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8137 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location92186712-92214925 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 92190022 bp
ZygosityHeterozygous
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]
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: 89,453,177 Q326H probably benign Het
Carf G A 1: 60,147,965 V576I probably benign Het
Ccnl1 C T 3: 65,957,870 D87N possibly damaging Het
Cgref1 T A 5: 30,934,405 D111V possibly damaging Het
Cnot4 G A 6: 35,046,287 P567S unknown Het
Cyp7b1 A T 3: 18,097,601 D149E probably benign Het
Dcc A T 18: 71,378,712 D877E probably benign Het
Dhx8 T A 11: 101,763,982 I1032N probably damaging Het
Dnah7b A G 1: 46,233,753 Y2347C probably damaging Het
Dtx3 A G 10: 127,193,172 S63P possibly damaging Het
Dyrk2 C T 10: 118,859,884 E490K probably benign Het
Fcgbp A C 7: 28,105,071 Y1868S probably damaging Het
Foxa2 T C 2: 148,043,848 H355R probably benign Het
Fpr-rs7 A G 17: 20,113,793 V145A possibly damaging Het
Gm13089 A G 4: 143,699,265 F36S probably damaging Het
Gm14137 A T 2: 119,175,356 E132V probably benign Het
Gpn2 T C 4: 133,588,562 S211P possibly damaging Het
Greb1l A T 18: 10,474,357 Q224L possibly damaging Het
Gspt1 A G 16: 11,240,668 V144A probably benign Het
Ifi204 A G 1: 173,761,622 I81T possibly damaging Het
Il27ra T A 8: 84,041,091 probably null Het
Kif21a T C 15: 90,968,442 T862A probably benign Het
Klf2 T C 8: 72,320,244 probably null Het
Kmt2e A G 5: 23,501,954 Y1505C probably damaging Het
Mcm9 T C 10: 53,622,980 T216A Het
Muc16 T C 9: 18,645,676 E3107G unknown Het
Ncor2 C T 5: 125,037,893 V169I Het
Oas3 T C 5: 120,777,500 Q42R probably benign Het
Olfr1208 T C 2: 88,896,669 *309W probably null Het
Olfr167 A G 16: 19,515,096 V180A possibly damaging Het
Pde10a A G 17: 8,974,815 Y693C possibly damaging Het
Pde11a T C 2: 76,211,039 E429G possibly damaging Het
Pygo1 A G 9: 72,944,858 H109R probably damaging Het
Ros1 A G 10: 52,125,837 I1084T possibly damaging Het
Sis T C 3: 72,889,045 D1801G probably benign Het
Slco4c1 C T 1: 96,821,245 G649E probably damaging Het
Sptbn2 A T 19: 4,737,403 I914F possibly damaging Het
Srebf2 C T 15: 82,178,765 R468C probably damaging Het
Strc C T 2: 121,366,738 G1503R probably damaging Het
Sv2c T A 13: 96,088,663 Y46F probably damaging Het
Tctn3 A T 19: 40,605,341 W462R probably damaging Het
Tex43 A G 18: 56,594,581 D117G probably damaging Het
Tjp3 T C 10: 81,273,691 D857G probably benign Het
Tor1aip2 C T 1: 156,063,668 T242I possibly damaging Het
Ttn T A 2: 76,969,929 I312F unknown Het
Vezt T C 10: 93,939,292 N94D Het
Vmn2r105 T C 17: 20,234,704 N57D probably benign Het
Wdr59 T C 8: 111,485,379 D353G Het
Ykt6 T C 11: 5,959,368 V59A probably damaging Het
Ypel3 T G 7: 126,778,097 V54G possibly damaging Het
Zfp386 T A 12: 116,059,648 C329S possibly damaging Het
Zfp451 A T 1: 33,782,075 L232H possibly damaging Het
Zfp648 A G 1: 154,205,364 H423R probably damaging Het
Zfp729b T C 13: 67,592,742 Y468C probably damaging Het
Other mutations in Rbsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Rbsn APN 6 92207119 missense possibly damaging 0.82
IGL02073:Rbsn APN 6 92189359 missense probably damaging 1.00
IGL02962:Rbsn APN 6 92190326 missense probably benign 0.00
R0172:Rbsn UTSW 6 92211607 missense probably damaging 0.99
R0735:Rbsn UTSW 6 92189693 missense probably benign 0.01
R0909:Rbsn UTSW 6 92189810 nonsense probably null
R1146:Rbsn UTSW 6 92201730 critical splice donor site probably null
R1146:Rbsn UTSW 6 92201730 critical splice donor site probably null
R1728:Rbsn UTSW 6 92190019 missense possibly damaging 0.69
R1729:Rbsn UTSW 6 92190019 missense possibly damaging 0.69
R1784:Rbsn UTSW 6 92190019 missense possibly damaging 0.69
R2135:Rbsn UTSW 6 92189873 missense probably benign
R2183:Rbsn UTSW 6 92189637 missense probably benign 0.02
R2324:Rbsn UTSW 6 92193966 missense probably damaging 1.00
R2890:Rbsn UTSW 6 92207123 missense possibly damaging 0.52
R3729:Rbsn UTSW 6 92191335 missense possibly damaging 0.81
R4007:Rbsn UTSW 6 92189819 missense probably benign 0.00
R4356:Rbsn UTSW 6 92207048 missense possibly damaging 0.47
R5027:Rbsn UTSW 6 92198250 missense probably damaging 1.00
R5364:Rbsn UTSW 6 92193977 missense probably damaging 0.96
R5787:Rbsn UTSW 6 92199816 missense possibly damaging 0.81
R7092:Rbsn UTSW 6 92189626 missense probably damaging 1.00
R7134:Rbsn UTSW 6 92201627 missense probably damaging 1.00
R7165:Rbsn UTSW 6 92191334 missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GAGGCCTTATCACTTTGCTGTG -3'
(R):5'- CTGCAGGATGAGTATGACCAGC -3'

Sequencing Primer
(F):5'- CACTTTGCTGTGACATGGTGCTC -3'
(R):5'- TGAGTATGACCAGCAGCAGAC -3'
Posted On2020-06-30