Incidental Mutation 'IGL01555:Rbfa'
| ID |
90692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbfa
|
| Ensembl Gene |
ENSMUSG00000024570 |
| Gene Name |
ribosome binding factor A |
| Synonyms |
1110032A13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL01555
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
80235480-80243873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80241015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 83
(T83I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025462]
|
| AlphaFold |
Q6P3B9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025462
AA Change: T83I
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: T83I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBFA
|
94 |
199 |
3.6e-15 |
PFAM |
|
low complexity region
|
304 |
332 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,610,443 (GRCm39) |
H372R |
probably benign |
Het |
| A3galt2 |
G |
A |
4: 128,655,851 (GRCm39) |
C73Y |
probably damaging |
Het |
| Arid4a |
C |
T |
12: 71,108,301 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,626,618 (GRCm39) |
V1706A |
probably damaging |
Het |
| Boll |
A |
G |
1: 55,344,827 (GRCm39) |
|
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,829,405 (GRCm39) |
M773K |
possibly damaging |
Het |
| Dhx9 |
A |
T |
1: 153,335,312 (GRCm39) |
D929E |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,006,478 (GRCm39) |
L775P |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,169,756 (GRCm39) |
V3001D |
probably damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,908,445 (GRCm39) |
I354F |
probably damaging |
Het |
| Nemp2 |
T |
A |
1: 52,680,202 (GRCm39) |
V142E |
probably damaging |
Het |
| Nipal2 |
A |
T |
15: 34,600,264 (GRCm39) |
|
probably benign |
Het |
| Otop1 |
A |
G |
5: 38,460,188 (GRCm39) |
Y585C |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,985,086 (GRCm39) |
T108A |
probably damaging |
Het |
| Pramel6 |
T |
C |
2: 87,341,129 (GRCm39) |
|
probably benign |
Het |
| Speer1k |
A |
T |
5: 10,999,051 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,074,805 (GRCm39) |
I920L |
probably benign |
Het |
|
| Other mutations in Rbfa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01405:Rbfa
|
APN |
18 |
80,236,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02838:Rbfa
|
APN |
18 |
80,236,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03214:Rbfa
|
APN |
18 |
80,240,506 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4584:Rbfa
|
UTSW |
18 |
80,243,721 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5293:Rbfa
|
UTSW |
18 |
80,235,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6384:Rbfa
|
UTSW |
18 |
80,235,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Rbfa
|
UTSW |
18 |
80,243,673 (GRCm39) |
nonsense |
probably null |
|
|
R7328:Rbfa
|
UTSW |
18 |
80,236,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9045:Rbfa
|
UTSW |
18 |
80,236,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Rbfa
|
UTSW |
18 |
80,235,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation