Incidental Mutation 'R5172:Rpf1'
| ID |
478123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpf1
|
| Ensembl Gene |
ENSMUSG00000028187 |
| Gene Name |
ribosome production factor 1 homolog |
| Synonyms |
Bxdc5, 2210420E24Rik, 2310066N05Rik |
| MMRRC Submission |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146212099-146227184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 146218050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 155
(R155G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029838]
[ENSMUST00000199079]
|
| AlphaFold |
Q7TND5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029838
AA Change: R155G
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029838
Gene: ENSMUSG00000028187
AA Change: R155G
| 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 |
possibly damaging
Transcript: ENSMUST00000199079
AA Change: R155G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143279
Gene: ENSMUSG00000028187
AA Change: R155G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
| Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
| Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
| Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
| Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCTGGAAGTGATGGGAAGC -3'
(R):5'- CTGAGCATAATTCTTCAGGACAG -3'
Sequencing Primer
(F):5'- GAAGTGATGGGAAGCCTTTTC -3'
(R):5'- CTGCCCAGTGTGATGATTAGCAAC -3'
|
| Posted On |
2017-05-25 |
Incidental Mutation