Incidental Mutation 'R4401:Rpf2'
| ID |
326637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpf2
|
| Ensembl Gene |
ENSMUSG00000038510 |
| Gene Name |
ribosome production factor 2 homolog |
| Synonyms |
2810470K21Rik, Bxdc1 |
| MMRRC Submission |
041132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R4401 (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 40112124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045114]
[ENSMUST00000181995]
[ENSMUST00000183052]
[ENSMUST00000183114]
[ENSMUST00000183309]
|
| AlphaFold |
Q9JJ80 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045114
AA Change: V71A
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035456
Gene: ENSMUSG00000038510
AA Change: V71A
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
1 |
195 |
3.25e-51 |
SMART |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181995
AA Change: V78A
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138425
Gene: ENSMUSG00000038510
AA Change: V78A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138646
Gene: ENSMUSG00000038510
| 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 |
possibly damaging
Transcript: ENSMUST00000183309
AA Change: V104A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138581
Gene: ENSMUSG00000038510
AA Change: V104A
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,390 (GRCm39) |
I454V |
possibly damaging |
Het |
| Acvr2a |
A |
G |
2: 48,789,714 (GRCm39) |
T486A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,990,145 (GRCm39) |
C157S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,893,714 (GRCm39) |
I287T |
possibly damaging |
Het |
| Cntn4 |
A |
G |
6: 106,466,625 (GRCm39) |
T176A |
possibly damaging |
Het |
| Cracd |
G |
A |
5: 76,996,763 (GRCm39) |
V74I |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,615 (GRCm39) |
N122S |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,023,947 (GRCm39) |
D291G |
probably benign |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,577,102 (GRCm39) |
T145A |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gm11937 |
C |
T |
11: 99,500,901 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm6712 |
C |
T |
17: 17,538,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
A |
G |
16: 18,744,470 (GRCm39) |
I352V |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,599,683 (GRCm39) |
V217A |
possibly damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Or2a25 |
G |
T |
6: 42,889,260 (GRCm39) |
E268* |
probably null |
Het |
| Or4k35 |
A |
G |
2: 111,100,178 (GRCm39) |
F178S |
probably damaging |
Het |
| Or51f5 |
C |
T |
7: 102,424,006 (GRCm39) |
R92* |
probably null |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,673,306 (GRCm39) |
V245E |
possibly damaging |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,155 (GRCm39) |
H616N |
probably benign |
Het |
| Slc66a1 |
T |
C |
4: 139,033,854 (GRCm39) |
I22V |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Trrap |
A |
G |
5: 144,780,128 (GRCm39) |
T3240A |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,468,405 (GRCm39) |
Y2854* |
probably null |
Het |
| Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
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 |
|
R2989:Rpf2
|
UTSW |
10 |
40,115,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- GCCAATGGCTTGTAAGTTCTG -3'
(R):5'- CCATGAGCTTACAGGTAAGATGG -3'
Sequencing Primer
(F):5'- GCCAATGGCTTGTAAGTTCTGAAAAC -3'
(R):5'- GAGACAGTCTCTTGCTGTGTAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation