Incidental Mutation 'R4007:Rbsn'
| ID |
311522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbsn
|
| Ensembl Gene |
ENSMUSG00000014550 |
| Gene Name |
rabenosyn, RAB effector |
| Synonyms |
Rabenosyn-5, 5330426D11Rik, Zfyve20 |
| MMRRC Submission |
041610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
92163693-92191874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92166800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 615
(T615S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014694]
|
| AlphaFold |
Q80Y56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014694
AA Change: T615S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: T615S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,895,524 (GRCm39) |
|
probably null |
Het |
| Aff1 |
A |
T |
5: 103,932,088 (GRCm39) |
K243N |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,682,598 (GRCm39) |
I558T |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,999,776 (GRCm39) |
I460V |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,150,679 (GRCm39) |
H1459L |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,243,012 (GRCm39) |
R459W |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,239,827 (GRCm39) |
I1667N |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,291 (GRCm39) |
S1672P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
| Dhx37 |
G |
A |
5: 125,501,995 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,025,741 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
G |
A |
4: 56,794,139 (GRCm39) |
T168I |
probably damaging |
Het |
| Erbb4 |
C |
A |
1: 68,779,560 (GRCm39) |
R72L |
probably damaging |
Het |
| F11r |
A |
G |
1: 171,288,916 (GRCm39) |
K178R |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,309 (GRCm39) |
L605P |
probably damaging |
Het |
| Fcna |
A |
G |
2: 25,516,018 (GRCm39) |
|
probably null |
Het |
| Filip1 |
A |
G |
9: 79,726,009 (GRCm39) |
I870T |
possibly damaging |
Het |
| Gm11595 |
C |
T |
11: 99,662,861 (GRCm39) |
C273Y |
unknown |
Het |
| Gml |
T |
A |
15: 74,685,548 (GRCm39) |
I146L |
possibly damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 140,596,627 (GRCm39) |
I69F |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,834,203 (GRCm39) |
T618A |
unknown |
Het |
| Mrps5 |
C |
A |
2: 127,433,755 (GRCm39) |
T48K |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Opn4 |
A |
T |
14: 34,321,789 (GRCm39) |
S43T |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,751,738 (GRCm39) |
I129V |
probably damaging |
Het |
| Rubcnl |
G |
T |
14: 75,287,143 (GRCm39) |
V604L |
possibly damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,590,532 (GRCm39) |
K374* |
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,362,452 (GRCm39) |
S854R |
probably damaging |
Het |
| Sv2c |
A |
G |
13: 96,123,341 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,658,430 (GRCm39) |
S572G |
probably damaging |
Het |
| Trbv13-3 |
T |
C |
6: 41,107,120 (GRCm39) |
C14R |
probably benign |
Het |
| Ttc7 |
G |
A |
17: 87,597,679 (GRCm39) |
D84N |
possibly damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,555 (GRCm39) |
G100* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,711 (GRCm39) |
W138R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zfp385b |
C |
T |
2: 77,549,836 (GRCm39) |
G83D |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,932,038 (GRCm39) |
|
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 |
|
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 |
|
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'- TCATCAAAAGGGTTGGGTGC -3'
(R):5'- CTTCCAATTGGAGGCCAGTC -3'
Sequencing Primer
(F):5'- AGGGATTTCCTGCCCCCAAC -3'
(R):5'- AGTCGAGGGCCTCACATTGATC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation