Incidental Mutation 'R2183:Rbsn'
| ID |
237289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbsn
|
| Ensembl Gene |
ENSMUSG00000014550 |
| Gene Name |
rabenosyn, RAB effector |
| Synonyms |
Rabenosyn-5, 5330426D11Rik, Zfyve20 |
| MMRRC Submission |
040185-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2183 (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 A
at 92166618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 675
(L675F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014694]
|
| AlphaFold |
Q80Y56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014694
AA Change: L675F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550
AA Change: L675F
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
T |
C |
15: 102,454,908 (GRCm39) |
T287A |
possibly damaging |
Het |
| Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
| Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
| Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,498,189 (GRCm39) |
L402Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,660,462 (GRCm39) |
C41R |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
| Nebl |
T |
C |
2: 17,409,027 (GRCm39) |
D357G |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,723 (GRCm39) |
Q100* |
probably null |
Het |
| Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
| Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
| Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
| Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
| Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
| Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
| Spart |
A |
G |
3: 55,024,554 (GRCm39) |
I50V |
probably benign |
Het |
| Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
| Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCAAAGATGTAAGCCTTG -3'
(R):5'- CAGCAAAGTGATAAGGCCTCAC -3'
Sequencing Primer
(F):5'- AGCAGCTCCTCCTCGATGTG -3'
(R):5'- CTCAACCCGTTTGATGAAGACG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation