Incidental Mutation 'IGL02073:Rbsn'
ID |
185889 |
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)
|
Stock # |
IGL02073
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
92163693-92191874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92166340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 768
(L768P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014694]
|
AlphaFold |
Q80Y56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014694
AA Change: L768P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014694 Gene: ENSMUSG00000014550 AA Change: L768P
Domain | Start | End | E-Value | Type |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930566N20Rik |
C |
A |
3: 156,914,039 (GRCm39) |
|
probably benign |
Het |
6330409D20Rik |
T |
G |
2: 32,630,698 (GRCm39) |
|
probably benign |
Het |
Als2cl |
A |
G |
9: 110,723,407 (GRCm39) |
K659E |
probably benign |
Het |
Bbx |
G |
A |
16: 50,022,854 (GRCm39) |
T702I |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,448,263 (GRCm39) |
D405G |
probably damaging |
Het |
Brpf3 |
A |
G |
17: 29,026,370 (GRCm39) |
Y481C |
probably benign |
Het |
Csnk1g1 |
T |
A |
9: 65,909,533 (GRCm39) |
Y217N |
probably damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,846,825 (GRCm39) |
V171L |
possibly damaging |
Het |
Dock8 |
G |
A |
19: 25,178,350 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
A |
14: 65,313,788 (GRCm39) |
G465W |
probably damaging |
Het |
Fbxo10 |
A |
G |
4: 45,046,349 (GRCm39) |
I587T |
possibly damaging |
Het |
Fstl5 |
A |
C |
3: 76,566,959 (GRCm39) |
|
probably benign |
Het |
Gabbr2 |
T |
C |
4: 46,667,547 (GRCm39) |
N866S |
probably benign |
Het |
Gm4871 |
T |
A |
5: 144,969,388 (GRCm39) |
K44* |
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,421,766 (GRCm39) |
|
probably benign |
Het |
Jup |
A |
G |
11: 100,274,215 (GRCm39) |
|
probably benign |
Het |
Mccc2 |
A |
T |
13: 100,136,783 (GRCm39) |
H57Q |
probably benign |
Het |
Myo1a |
A |
T |
10: 127,546,094 (GRCm39) |
D239V |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,974,612 (GRCm39) |
S695T |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,249,743 (GRCm39) |
S1052T |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,169 (GRCm39) |
I301T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,621 (GRCm39) |
N112K |
possibly damaging |
Het |
Or8c10 |
C |
T |
9: 38,279,603 (GRCm39) |
H244Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,729,414 (GRCm39) |
I526K |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,621,102 (GRCm39) |
D974G |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,001 (GRCm39) |
E407G |
probably damaging |
Het |
Polk |
A |
G |
13: 96,641,059 (GRCm39) |
V166A |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,610,322 (GRCm39) |
I184V |
probably damaging |
Het |
Ptpra |
T |
C |
2: 30,333,362 (GRCm39) |
S64P |
probably damaging |
Het |
Ripk3 |
C |
T |
14: 56,023,482 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sar1b |
T |
C |
11: 51,680,020 (GRCm39) |
|
probably benign |
Het |
Slx |
A |
T |
X: 26,489,755 (GRCm39) |
W89R |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Svep1 |
T |
C |
4: 58,070,104 (GRCm39) |
I2561V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,624,721 (GRCm39) |
D1743G |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,525,208 (GRCm39) |
L79P |
possibly damaging |
Het |
Trub1 |
A |
T |
19: 57,441,379 (GRCm39) |
M1L |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,651,386 (GRCm39) |
D1577G |
possibly damaging |
Het |
Vat1 |
A |
T |
11: 101,351,405 (GRCm39) |
M312K |
possibly damaging |
Het |
Vmn1r17 |
T |
C |
6: 57,337,787 (GRCm39) |
I193V |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,875,732 (GRCm39) |
I2706V |
possibly damaging |
Het |
Wls |
T |
C |
3: 159,612,890 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,519,564 (GRCm39) |
T11A |
possibly damaging |
Het |
|
Other mutations in Rbsn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01417:Rbsn
|
APN |
6 |
92,184,100 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |
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 |
2014-05-07 |