Incidental Mutation 'R9317:Rpf1'
ID |
705906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpf1
|
Ensembl Gene |
ENSMUSG00000028187 |
Gene Name |
ribosome production factor 1 homolog |
Synonyms |
Bxdc5, 2210420E24Rik, 2310066N05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R9317 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
146212099-146227184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146218016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 166
(V166A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029838]
[ENSMUST00000199079]
|
AlphaFold |
Q7TND5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029838
AA Change: V166A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029838 Gene: ENSMUSG00000028187 AA Change: V166A
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: ENSMUST00000199079
AA Change: V166A
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000143279 Gene: ENSMUSG00000028187 AA Change: V166A
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
T |
C |
8: 120,342,180 (GRCm39) |
L307P |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
C1qbp |
T |
C |
11: 70,868,929 (GRCm39) |
N278D |
probably benign |
Het |
Cd68 |
C |
T |
11: 69,555,860 (GRCm39) |
|
probably null |
Het |
Cdc37l1 |
T |
G |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,309,421 (GRCm39) |
V253A |
possibly damaging |
Het |
Dnmt1 |
A |
G |
9: 20,829,575 (GRCm39) |
F795S |
probably damaging |
Het |
Gli3 |
T |
A |
13: 15,889,658 (GRCm39) |
S591T |
probably damaging |
Het |
Gmeb1 |
A |
T |
4: 131,953,349 (GRCm39) |
S472R |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,832,037 (GRCm39) |
S1046P |
probably benign |
Het |
Grik5 |
A |
G |
7: 24,745,660 (GRCm39) |
L471P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,350,328 (GRCm39) |
R5075H |
possibly damaging |
Het |
Hspa5 |
G |
T |
2: 34,666,070 (GRCm39) |
S638I |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,307,422 (GRCm39) |
Y355C |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,834,045 (GRCm39) |
T2366A |
|
Het |
Negr1 |
T |
A |
3: 156,904,081 (GRCm39) |
C315S |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or8b52 |
T |
A |
9: 38,576,655 (GRCm39) |
M162L |
probably benign |
Het |
Prr5 |
C |
T |
15: 84,583,324 (GRCm39) |
Q110* |
probably null |
Het |
Prune2 |
T |
A |
19: 17,099,034 (GRCm39) |
S1513T |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,731 (GRCm39) |
E274G |
probably damaging |
Het |
Qrfprl |
A |
C |
6: 65,424,368 (GRCm39) |
I174L |
probably benign |
Het |
Rmdn3 |
G |
A |
2: 118,986,991 (GRCm39) |
A12V |
unknown |
Het |
Senp5 |
A |
C |
16: 31,802,390 (GRCm39) |
F554C |
probably damaging |
Het |
Smarca2 |
T |
C |
19: 26,737,279 (GRCm39) |
C65R |
possibly damaging |
Het |
Sprr2j-ps |
T |
A |
3: 92,326,178 (GRCm39) |
C18S |
unknown |
Het |
Sult2a6 |
A |
T |
7: 13,970,615 (GRCm39) |
Y160* |
probably null |
Het |
Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,301,896 (GRCm39) |
K351R |
probably benign |
Het |
Trpc1 |
A |
G |
9: 95,603,275 (GRCm39) |
L419P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,641,699 (GRCm39) |
K13466E |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,447,662 (GRCm39) |
F1846S |
possibly damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,404,022 (GRCm39) |
N56K |
probably benign |
Het |
Wdr12 |
C |
A |
1: 60,128,455 (GRCm39) |
M98I |
probably benign |
Het |
Zfp953 |
T |
C |
13: 67,491,457 (GRCm39) |
Y165C |
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 |
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 |
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 |
PCR Primer
(F):5'- CCATTCTGGAAGTGATGGGAAG -3'
(R):5'- TGGCCTTAGATTCAGGAGACACTG -3'
Sequencing Primer
(F):5'- GAAGTGATGGGAAGCCTTTTC -3'
(R):5'- GATTCAGGAGACACTGCCCCAC -3'
|
Posted On |
2022-03-25 |