Incidental Mutation 'IGL01417:Rbsn'
| ID |
80436 |
| 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 # |
IGL01417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
92163693-92191874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92184100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 71
(E71G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014694]
[ENSMUST00000138041]
[ENSMUST00000203516]
|
| AlphaFold |
Q80Y56 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014694
AA Change: E71G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: E71G
| 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: ENSMUST00000138041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203516
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,570,898 (GRCm39) |
Y44C |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
| Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
| Htatip2 |
G |
A |
7: 49,420,573 (GRCm39) |
V140I |
possibly damaging |
Het |
| Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,800,081 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,566 (GRCm39) |
E135G |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,200 (GRCm39) |
R472G |
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,502 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rbsn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation