Incidental Mutation 'R2989:Rpf2'
| ID |
257868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpf2
|
| Ensembl Gene |
ENSMUSG00000038510 |
| Gene Name |
ribosome production factor 2 homolog |
| Synonyms |
2810470K21Rik, Bxdc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R2989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40099242-40123032 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40115749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 77
(S77P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045114]
[ENSMUST00000181995]
[ENSMUST00000183052]
[ENSMUST00000183114]
[ENSMUST00000183309]
|
| AlphaFold |
Q9JJ80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045114
AA Change: S44P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000035456
Gene: ENSMUSG00000038510
AA Change: S44P
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
1 |
195 |
3.25e-51 |
SMART |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181995
|
| SMART Domains |
Protein: ENSMUSP00000138425
Gene: ENSMUSG00000038510
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
34 |
202 |
8.11e-29 |
SMART |
|
low complexity region
|
215 |
226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183052
AA Change: S77P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138646
Gene: ENSMUSG00000038510
AA Change: S77P
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
34 |
175 |
6.08e-10 |
SMART |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183114
|
| SMART Domains |
Protein: ENSMUSP00000138750
Gene: ENSMUSG00000038510
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
3 |
149 |
1.26e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183309
AA Change: S77P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138581
Gene: ENSMUSG00000038510
AA Change: S77P
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
34 |
228 |
3.25e-51 |
SMART |
|
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,729,866 (GRCm39) |
T205I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,150,694 (GRCm39) |
N31K |
possibly damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,622 (GRCm39) |
D156G |
possibly damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Coil |
C |
A |
11: 88,878,805 (GRCm39) |
A520D |
probably damaging |
Het |
| Cpe |
G |
T |
8: 65,050,549 (GRCm39) |
N386K |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,061,302 (GRCm39) |
I4295T |
probably benign |
Het |
| Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
| G530012D18Rik |
GAGAGAGACAGAGAGACAGAGA |
GAGAGAGACAGAGA |
1: 85,504,937 (GRCm39) |
|
probably null |
Het |
| Intu |
A |
G |
3: 40,647,140 (GRCm39) |
K671R |
probably benign |
Het |
| Jup |
T |
C |
11: 100,267,667 (GRCm39) |
D552G |
possibly damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,384,207 (GRCm39) |
T324A |
unknown |
Het |
| Mettl5 |
G |
T |
2: 69,711,659 (GRCm39) |
A69E |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,831 (GRCm39) |
M303K |
probably benign |
Het |
| Sgo1 |
A |
G |
17: 53,994,162 (GRCm39) |
Y97H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,599 (GRCm39) |
Y33H |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,652,540 (GRCm39) |
M56K |
unknown |
Het |
| Trafd1 |
T |
C |
5: 121,517,529 (GRCm39) |
T63A |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,881 (GRCm39) |
V777I |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,190,869 (GRCm39) |
E937G |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,617,114 (GRCm39) |
I57T |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,622,347 (GRCm39) |
I424N |
probably benign |
Het |
|
| Other mutations in Rpf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Rpf2
|
APN |
10 |
40,115,755 (GRCm39) |
nonsense |
probably null |
|
|
R0190:Rpf2
|
UTSW |
10 |
40,103,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Rpf2
|
UTSW |
10 |
40,109,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1912:Rpf2
|
UTSW |
10 |
40,112,197 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4401:Rpf2
|
UTSW |
10 |
40,112,124 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4843:Rpf2
|
UTSW |
10 |
40,122,998 (GRCm39) |
unclassified |
probably benign |
|
|
R5092:Rpf2
|
UTSW |
10 |
40,122,971 (GRCm39) |
start codon destroyed |
probably null |
0.63 |
|
R5394:Rpf2
|
UTSW |
10 |
40,109,181 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5473:Rpf2
|
UTSW |
10 |
40,103,627 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7999:Rpf2
|
UTSW |
10 |
40,099,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Rpf2
|
UTSW |
10 |
40,101,429 (GRCm39) |
nonsense |
probably null |
|
|
R8446:Rpf2
|
UTSW |
10 |
40,115,752 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9304:Rpf2
|
UTSW |
10 |
40,119,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9423:Rpf2
|
UTSW |
10 |
40,101,336 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Rpf2
|
UTSW |
10 |
40,119,868 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAATCCTCACACTGTACAGGA -3'
(R):5'- CCTCTATTTTCCTCGGTGGGA -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- TCGGTGGGATTAAAGGTGTACCAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation