Incidental Mutation 'IGL02962:Rbsn'
ID 365391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbsn
Ensembl Gene ENSMUSG00000014550
Gene Name rabenosyn, RAB effector
Synonyms Rabenosyn-5, 5330426D11Rik, Zfyve20
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02962
Quality Score
Status
Chromosome 6
Chromosomal Location 92163693-92191874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92167307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 446 (S446P)
Ref Sequence ENSEMBL: ENSMUSP00000014694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014694]
AlphaFold Q80Y56
Predicted Effect probably benign
Transcript: ENSMUST00000014694
AA Change: S446P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: S446P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204858
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,446,455 (GRCm39) probably null Het
9530068E07Rik T C 11: 52,294,362 (GRCm39) V209A possibly damaging Het
Abca3 T A 17: 24,619,383 (GRCm39) V907E probably damaging Het
Acvrl1 T C 15: 101,033,382 (GRCm39) Y90H probably benign Het
Aff3 T C 1: 38,574,737 (GRCm39) D81G probably damaging Het
Amn G T 12: 111,240,951 (GRCm39) V152L probably damaging Het
Arhgap44 A G 11: 64,957,987 (GRCm39) probably benign Het
Atad5 T A 11: 79,999,405 (GRCm39) V895D possibly damaging Het
Card9 T G 2: 26,248,029 (GRCm39) probably null Het
Ccer1 T C 10: 97,529,702 (GRCm39) S122P unknown Het
Ccr2 A G 9: 123,905,712 (GRCm39) probably benign Het
Dsg1a T A 18: 20,473,381 (GRCm39) I818N possibly damaging Het
Ear10 G T 14: 44,160,774 (GRCm39) L18I probably damaging Het
Mertk A G 2: 128,619,374 (GRCm39) Y544C probably damaging Het
Miga1 A T 3: 151,990,978 (GRCm39) probably benign Het
Myo18a T C 11: 77,669,061 (GRCm39) V307A probably damaging Het
Or5p64 A T 7: 107,854,910 (GRCm39) I145N possibly damaging Het
Or7a38 T A 10: 78,752,773 (GRCm39) L33H probably damaging Het
Pou2f3 T C 9: 43,036,384 (GRCm39) probably benign Het
Pramel23 T A 4: 143,423,910 (GRCm39) E293V probably benign Het
Prickle2 A C 6: 92,353,403 (GRCm39) S744A probably benign Het
Prkcb T A 7: 122,024,270 (GRCm39) probably null Het
Prkd2 A G 7: 16,603,757 (GRCm39) T813A probably benign Het
Prkra G A 2: 76,463,891 (GRCm39) T257M probably damaging Het
Rbm18 C T 2: 36,012,886 (GRCm39) R102Q probably damaging Het
Rpgrip1l A T 8: 91,996,990 (GRCm39) V28D possibly damaging Het
Sdccag8 A T 1: 176,775,928 (GRCm39) K613I probably damaging Het
Serbp1 G A 6: 67,244,103 (GRCm39) G8D probably damaging Het
Slc6a2 T A 8: 93,699,390 (GRCm39) Y139* probably null Het
Slc7a2 T A 8: 41,358,621 (GRCm39) F321L probably damaging Het
Slco1b2 G A 6: 141,594,279 (GRCm39) S48N probably damaging Het
Ssbp2 G T 13: 91,790,490 (GRCm39) V118L possibly damaging Het
Sugp1 T A 8: 70,512,512 (GRCm39) probably benign Het
Taar5 C A 10: 23,846,883 (GRCm39) R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 (GRCm39) A353S probably benign Het
Trav1 A G 14: 52,666,099 (GRCm39) E32G probably damaging Het
Trp53bp2 T C 1: 182,259,160 (GRCm39) V71A probably benign Het
Vmn2r50 T C 7: 9,784,252 (GRCm39) Y74C probably damaging Het
Wars1 A T 12: 108,841,706 (GRCm39) M147K 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
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
R8137:Rbsn UTSW 6 92,167,003 (GRCm39) missense probably benign 0.00
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
Posted On 2015-12-18