Incidental Mutation 'IGL01729:Rpf1'
| ID |
105400 |
| 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 # |
IGL01729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146212099-146227184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146212904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 311
(R311C)
|
| 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: R311C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: R311C
| 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: R105C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200583
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
A |
G |
15: 83,112,526 (GRCm39) |
F86L |
probably damaging |
Het |
| Acer3 |
A |
G |
7: 97,866,072 (GRCm39) |
V217A |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
C |
T |
15: 64,678,511 (GRCm39) |
V481I |
probably damaging |
Het |
| Ano3 |
C |
T |
2: 110,611,739 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
C |
T |
11: 97,344,787 (GRCm39) |
T583I |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Clgn |
T |
C |
8: 84,124,279 (GRCm39) |
W74R |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,753 (GRCm39) |
S523G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,864,529 (GRCm39) |
K2245Q |
probably benign |
Het |
| Dsg1b |
G |
T |
18: 20,538,295 (GRCm39) |
V634L |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,748,726 (GRCm39) |
V864E |
possibly damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,701 (GRCm39) |
R120* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,685,881 (GRCm39) |
|
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,178,132 (GRCm39) |
S398L |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,502,689 (GRCm39) |
K392E |
probably damaging |
Het |
| Gm10355 |
G |
A |
3: 101,213,999 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3424 |
T |
C |
14: 17,337,188 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gm8165 |
A |
G |
14: 43,910,186 (GRCm39) |
V212A |
unknown |
Het |
| Grm7 |
G |
A |
6: 111,223,145 (GRCm39) |
R395Q |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,333,986 (GRCm39) |
N185K |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,016,821 (GRCm39) |
F80L |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,365,712 (GRCm39) |
Y206H |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,561,402 (GRCm39) |
Y614H |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,552,572 (GRCm39) |
D18V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,581,888 (GRCm39) |
Y61H |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,893,372 (GRCm39) |
T358S |
probably benign |
Het |
| Prpf6 |
T |
A |
2: 181,296,710 (GRCm39) |
D876E |
probably damaging |
Het |
| Rpusd2 |
T |
A |
2: 118,865,837 (GRCm39) |
V178D |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,068,042 (GRCm39) |
F222L |
probably benign |
Het |
| Themis |
T |
A |
10: 28,637,587 (GRCm39) |
Y230* |
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,325,942 (GRCm39) |
L314P |
possibly damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,283,017 (GRCm39) |
E846G |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,551,603 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trim21 |
G |
A |
7: 102,213,100 (GRCm39) |
A66V |
probably damaging |
Het |
| Trip4 |
A |
C |
9: 65,782,174 (GRCm39) |
V186G |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,739 (GRCm39) |
E348G |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,878,717 (GRCm39) |
|
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,888 (GRCm39) |
S7P |
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 |
|
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 |
2014-01-21 |
Incidental Mutation