Incidental Mutation 'R5525:Rpf1'
ID |
501102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpf1
|
Ensembl Gene |
ENSMUSG00000028187 |
Gene Name |
ribosome production factor 1 homolog |
Synonyms |
Bxdc5, 2210420E24Rik, 2310066N05Rik |
MMRRC Submission |
043083-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R5525 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
146212099-146227184 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 146223559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029838]
[ENSMUST00000199079]
|
AlphaFold |
Q7TND5 |
Predicted Effect |
silent
Transcript: ENSMUST00000029838
|
SMART Domains |
Protein: ENSMUSP00000029838 Gene: ENSMUSG00000028187
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 |
silent
Transcript: ENSMUST00000199079
|
SMART Domains |
Protein: ENSMUSP00000143279 Gene: ENSMUSG00000028187
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 |
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,731 (GRCm39) |
T1501A |
probably benign |
Het |
Acin1 |
G |
A |
14: 54,901,848 (GRCm39) |
A648V |
possibly damaging |
Het |
Agap1 |
A |
G |
1: 89,671,495 (GRCm39) |
T401A |
possibly damaging |
Het |
Anapc4 |
T |
G |
5: 53,014,151 (GRCm39) |
M440R |
probably damaging |
Het |
Ankrd26 |
A |
G |
6: 118,504,692 (GRCm39) |
M739T |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,001,273 (GRCm39) |
E721G |
possibly damaging |
Het |
Bzw1 |
A |
G |
1: 58,442,065 (GRCm39) |
E221G |
possibly damaging |
Het |
Cenpm |
A |
C |
15: 82,123,492 (GRCm39) |
|
probably null |
Het |
Exosc1 |
T |
A |
19: 41,912,457 (GRCm39) |
K143N |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 92,043,228 (GRCm39) |
L1236Q |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Grm3 |
C |
T |
5: 9,554,872 (GRCm39) |
V807I |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,504,026 (GRCm39) |
N1110S |
probably benign |
Het |
Magi1 |
A |
T |
6: 93,769,354 (GRCm39) |
V17D |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,767,961 (GRCm39) |
M5298R |
possibly damaging |
Het |
Nlrp9c |
T |
A |
7: 26,083,926 (GRCm39) |
E551V |
probably damaging |
Het |
Oacyl |
A |
C |
18: 65,878,427 (GRCm39) |
I457L |
probably benign |
Het |
Or12d13 |
C |
T |
17: 37,647,517 (GRCm39) |
G202D |
probably damaging |
Het |
Or5p69 |
A |
G |
7: 107,967,206 (GRCm39) |
I170V |
probably benign |
Het |
Or5t17 |
A |
T |
2: 86,832,683 (GRCm39) |
E123D |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,210,269 (GRCm39) |
E996G |
probably damaging |
Het |
Rabep1 |
T |
A |
11: 70,813,972 (GRCm39) |
S554T |
probably damaging |
Het |
Rln1 |
T |
C |
19: 29,311,920 (GRCm39) |
E26G |
probably benign |
Het |
Sdk1 |
T |
C |
5: 142,171,020 (GRCm39) |
V1961A |
possibly damaging |
Het |
Serpinb8 |
A |
T |
1: 107,535,023 (GRCm39) |
I365F |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,623,846 (GRCm39) |
D277G |
probably damaging |
Het |
Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,259,538 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,332,006 (GRCm39) |
T1269A |
possibly damaging |
Het |
Ttll3 |
A |
G |
6: 113,389,939 (GRCm39) |
N776D |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,645,773 (GRCm39) |
E1483G |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,485,803 (GRCm39) |
D2971G |
probably benign |
Het |
Zfp322a |
A |
G |
13: 23,541,685 (GRCm39) |
V19A |
probably benign |
Het |
Zfp462 |
C |
A |
4: 55,050,281 (GRCm39) |
P2164T |
possibly 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 |
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 |
Y5404:Rpf1
|
UTSW |
3 |
146,218,591 (GRCm39) |
missense |
probably damaging |
1.00 |
Y5405:Rpf1
|
UTSW |
3 |
146,218,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-12-01 |