Incidental Mutation 'IGL00492:Rpf1'
| ID |
6737 |
| 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: 0.925)
|
| Stock # |
IGL00492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146505956-146521429 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146512247 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 171
(H171Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029838]
[ENSMUST00000199079]
|
| AlphaFold |
Q7TND5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029838
AA Change: H171Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: H171Y
| 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 benign
Transcript: ENSMUST00000199079
AA Change: H171Y
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: H171Y
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
G |
T |
3: 122,003,312 (GRCm38) |
E108* |
probably null |
Het |
| Braf |
A |
T |
6: 39,660,999 (GRCm38) |
|
probably null |
Het |
| Calr3 |
G |
A |
8: 72,431,396 (GRCm38) |
Q112* |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,082,674 (GRCm38) |
I649T |
probably damaging |
Het |
| Dopey2 |
T |
C |
16: 93,780,782 (GRCm38) |
V65A |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,379,302 (GRCm38) |
Y126H |
probably damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,723,709 (GRCm38) |
Y170* |
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,831,463 (GRCm38) |
T61A |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,095,294 (GRCm38) |
L83M |
probably damaging |
Het |
| Fbxo17 |
A |
C |
7: 28,735,341 (GRCm38) |
S184R |
probably damaging |
Het |
| Fcf1 |
T |
C |
12: 84,982,332 (GRCm38) |
|
probably null |
Het |
| Gm428 |
C |
T |
4: 73,687,333 (GRCm38) |
T327I |
probably damaging |
Het |
| Hcrtr2 |
T |
C |
9: 76,246,441 (GRCm38) |
Y223C |
probably damaging |
Het |
| Kcnn1 |
A |
G |
8: 70,848,062 (GRCm38) |
F432S |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,807,934 (GRCm38) |
|
probably benign |
Het |
| Lce1j |
T |
C |
3: 92,789,406 (GRCm38) |
T22A |
unknown |
Het |
| Lrfn5 |
T |
A |
12: 61,844,126 (GRCm38) |
S734T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,678,175 (GRCm38) |
S2253R |
possibly damaging |
Het |
| Myrfl |
G |
A |
10: 116,796,106 (GRCm38) |
L645F |
possibly damaging |
Het |
| Nudt9 |
A |
G |
5: 104,061,762 (GRCm38) |
|
probably benign |
Het |
| Ostn |
T |
A |
16: 27,321,382 (GRCm38) |
M15K |
possibly damaging |
Het |
| Psg20 |
T |
C |
7: 18,674,611 (GRCm38) |
T395A |
possibly damaging |
Het |
| Shprh |
A |
G |
10: 11,188,158 (GRCm38) |
E1325G |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,594,135 (GRCm38) |
V77L |
probably benign |
Het |
| Tbck |
A |
C |
3: 132,722,740 (GRCm38) |
K285N |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 13,102,541 (GRCm38) |
C86Y |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 57,873,924 (GRCm38) |
I73T |
probably damaging |
Het |
| Zfp512b |
T |
C |
2: 181,587,069 (GRCm38) |
D701G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,711,366 (GRCm38) |
Y379N |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 167,036,923 (GRCm38) |
H980Q |
probably damaging |
Het |
|
| Other mutations in Rpf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01371:Rpf1
|
APN |
3 |
146,507,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01729:Rpf1
|
APN |
3 |
146,507,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02122:Rpf1
|
APN |
3 |
146,521,267 (GRCm38) |
missense |
probably benign |
|
|
R0196:Rpf1
|
UTSW |
3 |
146,508,149 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1664:Rpf1
|
UTSW |
3 |
146,512,148 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2019:Rpf1
|
UTSW |
3 |
146,521,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3151:Rpf1
|
UTSW |
3 |
146,507,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4989:Rpf1
|
UTSW |
3 |
146,506,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5133:Rpf1
|
UTSW |
3 |
146,506,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5134:Rpf1
|
UTSW |
3 |
146,506,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5172:Rpf1
|
UTSW |
3 |
146,512,295 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5383:Rpf1
|
UTSW |
3 |
146,519,391 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5525:Rpf1
|
UTSW |
3 |
146,517,804 (GRCm38) |
splice site |
silent |
|
|
R5927:Rpf1
|
UTSW |
3 |
146,519,463 (GRCm38) |
splice site |
probably null |
|
|
R5947:Rpf1
|
UTSW |
3 |
146,506,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7070:Rpf1
|
UTSW |
3 |
146,512,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7311:Rpf1
|
UTSW |
3 |
146,507,163 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8345:Rpf1
|
UTSW |
3 |
146,507,676 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9317:Rpf1
|
UTSW |
3 |
146,512,261 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9406:Rpf1
|
UTSW |
3 |
146,508,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9746:Rpf1
|
UTSW |
3 |
146,517,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Y5404:Rpf1
|
UTSW |
3 |
146,512,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Y5405:Rpf1
|
UTSW |
3 |
146,512,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation