Incidental Mutation 'Y5404:Rpf1'
| ID |
201542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpf1
|
| Ensembl Gene |
ENSMUSG00000028187 |
| Gene Name |
ribosome production factor 1 homolog |
| Synonyms |
Bxdc5, 2210420E24Rik, 2310066N05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
Y5404 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146212099-146227184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146218591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 148
(T148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029838]
[ENSMUST00000199079]
|
| AlphaFold |
Q7TND5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029838
AA Change: T148A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: T148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
92 |
N/A |
INTRINSIC |
|
Brix
|
145 |
319 |
4.82e-54 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196909
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199079
AA Change: T148A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: T148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
92 |
N/A |
INTRINSIC |
|
Pfam:Brix
|
146 |
211 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200583
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.5%
- 10x: 94.0%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 4 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs1 |
T |
C |
19: 4,950,635 (GRCm39) |
M203V |
possibly damaging |
Het |
| Drc7 |
GGATGATGATGATGATGATG |
GGATGATGATGATGATG |
8: 95,794,778 (GRCm39) |
|
probably benign |
Het |
| Gm4978 |
T |
G |
9: 69,357,984 (GRCm39) |
|
probably benign |
Het |
| Syt4 |
A |
G |
18: 31,576,844 (GRCm39) |
F170S |
probably damaging |
Het |
|
| Other mutations in Rpf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Rpf1
|
APN |
3 |
146,218,002 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01371:Rpf1
|
APN |
3 |
146,213,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01729:Rpf1
|
APN |
3 |
146,212,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Rpf1
|
APN |
3 |
146,227,022 (GRCm39) |
missense |
probably benign |
|
|
R0196:Rpf1
|
UTSW |
3 |
146,213,904 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1664:Rpf1
|
UTSW |
3 |
146,217,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2019:Rpf1
|
UTSW |
3 |
146,226,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Rpf1
|
UTSW |
3 |
146,213,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Rpf1
|
UTSW |
3 |
146,212,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Rpf1
|
UTSW |
3 |
146,212,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Rpf1
|
UTSW |
3 |
146,212,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5172:Rpf1
|
UTSW |
3 |
146,218,050 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5383:Rpf1
|
UTSW |
3 |
146,225,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5525:Rpf1
|
UTSW |
3 |
146,223,559 (GRCm39) |
splice site |
silent |
|
|
R5927:Rpf1
|
UTSW |
3 |
146,225,218 (GRCm39) |
splice site |
probably null |
|
|
R5947:Rpf1
|
UTSW |
3 |
146,212,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Rpf1
|
UTSW |
3 |
146,217,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Rpf1
|
UTSW |
3 |
146,212,918 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8345:Rpf1
|
UTSW |
3 |
146,213,431 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9317:Rpf1
|
UTSW |
3 |
146,218,016 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9406:Rpf1
|
UTSW |
3 |
146,213,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Rpf1
|
UTSW |
3 |
146,223,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y5405:Rpf1
|
UTSW |
3 |
146,218,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTGAAGAATTATGCTCAGTAAGTC -3'
(R):5'- TTGACACTGGCCGTTCACAC -3'
Sequencing Primer
(F):5'- CAGTAAGTCTGTTAATCCCCATCAG -3'
(R):5'- CGTTCACACTTGTGCAGAAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation