Incidental Mutation 'IGL01371:Rpf1'
| ID |
76149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146212099-146227184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146213302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 283
(N283S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029838]
[ENSMUST00000090031]
[ENSMUST00000118280]
[ENSMUST00000119130]
[ENSMUST00000199079]
|
| AlphaFold |
Q7TND5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029838
AA Change: N283S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: N283S
| 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 |
probably benign
Transcript: ENSMUST00000090031
|
| SMART Domains |
Protein: ENSMUSP00000087485
Gene: ENSMUSG00000068523
| Domain | Start | End | E-Value | Type |
|---|
|
G_gamma
|
4 |
68 |
1.06e-20 |
SMART |
|
GGL
|
7 |
68 |
2.79e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118280
|
| SMART Domains |
Protein: ENSMUSP00000114014
Gene: ENSMUSG00000068523
| Domain | Start | End | E-Value | Type |
|---|
|
G_gamma
|
4 |
68 |
1.06e-20 |
SMART |
|
GGL
|
7 |
68 |
2.79e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119130
|
| SMART Domains |
Protein: ENSMUSP00000113018
Gene: ENSMUSG00000068523
| Domain | Start | End | E-Value | Type |
|---|
|
G_gamma
|
1 |
67 |
9.67e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196909
|
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000199174
AA Change: N77S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200583
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,602,340 (GRCm39) |
R691Q |
probably benign |
Het |
| Ambra1 |
G |
T |
2: 91,655,631 (GRCm39) |
G700W |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,683,204 (GRCm39) |
I198V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,946,733 (GRCm39) |
N2353S |
probably benign |
Het |
| Cd84 |
A |
T |
1: 171,713,937 (GRCm39) |
T312S |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,692,325 (GRCm39) |
C1064F |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,666,433 (GRCm39) |
D473G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,593 (GRCm39) |
R1793G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,605,285 (GRCm39) |
N2374S |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,809,718 (GRCm39) |
L1583P |
probably damaging |
Het |
| Gm43191 |
A |
T |
3: 116,439,112 (GRCm39) |
I130N |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,840,581 (GRCm39) |
L475R |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,595,783 (GRCm39) |
V615A |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,975 (GRCm39) |
E504G |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,201,705 (GRCm39) |
Q462L |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,401,743 (GRCm39) |
W755R |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,098 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,192 (GRCm39) |
T277I |
possibly damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,267 (GRCm39) |
K318M |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,400,390 (GRCm39) |
F1034L |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,856,325 (GRCm39) |
D551E |
probably benign |
Het |
| Panx3 |
T |
G |
9: 37,572,771 (GRCm39) |
T260P |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,255,824 (GRCm39) |
S194T |
probably benign |
Het |
| Rnf135 |
T |
A |
11: 80,080,081 (GRCm39) |
I124N |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,266,951 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,849 (GRCm39) |
E2702G |
probably benign |
Het |
| Tbk1 |
A |
T |
10: 121,395,776 (GRCm39) |
M439K |
probably benign |
Het |
| Tmem235 |
T |
C |
11: 117,753,132 (GRCm39) |
L85P |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,620,608 (GRCm39) |
|
probably benign |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,160 (GRCm39) |
F299S |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation