Incidental Mutation 'R2890:Rbsn'
| ID |
260058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbsn
|
| Ensembl Gene |
ENSMUSG00000014550 |
| Gene Name |
rabenosyn, RAB effector |
| Synonyms |
Rabenosyn-5, 5330426D11Rik, Zfyve20 |
| MMRRC Submission |
040478-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
92163693-92191874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92184104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 70
(V70M)
|
| 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: V70M
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: V70M
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| A1cf |
A |
G |
19: 31,895,417 (GRCm39) |
I167V |
probably benign |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,363,126 (GRCm39) |
K321E |
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,945,302 (GRCm39) |
H1351R |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,496,026 (GRCm39) |
D127G |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,048 (GRCm39) |
Y356C |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,673,800 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,583,325 (GRCm39) |
L474P |
probably damaging |
Het |
| Fzd7 |
C |
T |
1: 59,523,593 (GRCm39) |
A492V |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,754,479 (GRCm39) |
L876P |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,515 (GRCm39) |
T144A |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,276,885 (GRCm39) |
V2835A |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Lcn10 |
T |
C |
2: 25,573,642 (GRCm39) |
L73P |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,011,249 (GRCm39) |
T347A |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,634 (GRCm39) |
I50F |
probably benign |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,379 (GRCm39) |
C791Y |
probably benign |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Slc25a1 |
A |
T |
16: 17,743,963 (GRCm39) |
L251Q |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,758 (GRCm39) |
I70L |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,937,849 (GRCm39) |
S278P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,498 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Vmn2r66 |
C |
T |
7: 84,661,027 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
G |
T |
12: 85,076,587 (GRCm39) |
R646L |
probably damaging |
Het |
| Zfp51 |
C |
G |
17: 21,684,118 (GRCm39) |
C244W |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,184,393 (GRCm39) |
T141K |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGTTTTGAACTACCAGGAGC -3'
(R):5'- GGGTAAGAAGGTCTTTACTTACTGC -3'
Sequencing Primer
(F):5'- GAACTACCAGGAGCATATTCTATCTG -3'
(R):5'- AAGGTCTTTACTTACTGCTGTATTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation