Incidental Mutation 'R8306:Rrbp1'
ID |
641048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrbp1
|
Ensembl Gene |
ENSMUSG00000027422 |
Gene Name |
ribosome binding protein 1 |
Synonyms |
mRRp1.8, mRRp0, mRRp5.4, mRRp47, 1700087N07Rik, mRRp10, mRRp16.8, ES/130, p180, mRRp41, mRRp2, mRRp15b, 5730465C04Rik, mRRp15a |
MMRRC Submission |
067792-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R8306 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143792416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1321
(S1321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016072
AA Change: S1321G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000016072 Gene: ENSMUSG00000027422 AA Change: S1321G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:Rib_recp_KP_reg
|
33 |
171 |
2.3e-40 |
PFAM |
low complexity region
|
197 |
215 |
N/A |
INTRINSIC |
internal_repeat_2
|
218 |
373 |
2.94e-114 |
PROSPERO |
internal_repeat_1
|
219 |
406 |
7.79e-148 |
PROSPERO |
internal_repeat_1
|
410 |
618 |
7.79e-148 |
PROSPERO |
internal_repeat_2
|
449 |
692 |
2.94e-114 |
PROSPERO |
coiled coil region
|
757 |
1126 |
N/A |
INTRINSIC |
coiled coil region
|
1167 |
1321 |
N/A |
INTRINSIC |
coiled coil region
|
1342 |
1455 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
C |
A |
11: 101,302,194 (GRCm39) |
V158F |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,434,409 (GRCm39) |
C22* |
probably null |
Het |
Adam1b |
T |
C |
5: 121,641,212 (GRCm39) |
|
probably benign |
Het |
Ambn |
G |
A |
5: 88,607,281 (GRCm39) |
E50K |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,873,259 (GRCm39) |
D14G |
probably benign |
Het |
Asphd1 |
C |
T |
7: 126,547,784 (GRCm39) |
R173H |
probably damaging |
Het |
Atr |
A |
T |
9: 95,802,423 (GRCm39) |
T1772S |
|
Het |
Best3 |
T |
C |
10: 116,838,515 (GRCm39) |
L191P |
probably damaging |
Het |
Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
Borcs6 |
T |
C |
11: 68,950,646 (GRCm39) |
L8P |
probably benign |
Het |
Brca1 |
T |
G |
11: 101,416,463 (GRCm39) |
Q557P |
probably damaging |
Het |
Brca2 |
G |
A |
5: 150,460,128 (GRCm39) |
E468K |
possibly damaging |
Het |
Capza2 |
T |
A |
6: 17,637,131 (GRCm39) |
L4Q |
probably benign |
Het |
Cc2d2b |
T |
A |
19: 40,804,228 (GRCm39) |
Y918* |
probably null |
Het |
Ccdc163 |
T |
C |
4: 116,567,472 (GRCm39) |
L67P |
probably damaging |
Het |
Ccdc172 |
C |
A |
19: 58,525,022 (GRCm39) |
Q160K |
probably damaging |
Het |
Ccp110 |
T |
A |
7: 118,321,903 (GRCm39) |
D519E |
probably benign |
Het |
Cd300ld2 |
T |
C |
11: 114,904,648 (GRCm39) |
Q73R |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,236,496 (GRCm39) |
D608V |
|
Het |
Cfap69 |
T |
G |
5: 5,654,287 (GRCm39) |
Y549S |
probably benign |
Het |
Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
Clu |
A |
C |
14: 66,217,211 (GRCm39) |
Q348P |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,473,649 (GRCm39) |
N1153K |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,888,849 (GRCm39) |
|
probably null |
Het |
Col6a6 |
A |
T |
9: 105,661,272 (GRCm39) |
I279N |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,402,259 (GRCm39) |
D1153G |
possibly damaging |
Het |
Dpyd |
A |
G |
3: 119,205,822 (GRCm39) |
K888E |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,287,656 (GRCm39) |
I1208T |
possibly damaging |
Het |
Epha1 |
T |
C |
6: 42,335,722 (GRCm39) |
I972V |
probably damaging |
Het |
Fam13c |
C |
T |
10: 70,388,983 (GRCm39) |
T503I |
probably benign |
Het |
Fbxo43 |
T |
A |
15: 36,162,013 (GRCm39) |
Q398L |
probably benign |
Het |
Fbxo44 |
A |
G |
4: 148,243,089 (GRCm39) |
I57T |
probably benign |
Het |
Flnc |
T |
C |
6: 29,449,369 (GRCm39) |
I1422T |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,746,076 (GRCm39) |
L138P |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,338,840 (GRCm39) |
K378E |
possibly damaging |
Het |
Ganc |
T |
A |
2: 120,252,560 (GRCm39) |
D128E |
probably benign |
Het |
Gm19965 |
T |
C |
1: 116,749,515 (GRCm39) |
S399P |
|
Het |
H2-Q1 |
A |
T |
17: 35,539,997 (GRCm39) |
K89* |
probably null |
Het |
H2-Q2 |
A |
T |
17: 35,561,301 (GRCm39) |
|
probably benign |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Homer2 |
T |
A |
7: 81,274,014 (GRCm39) |
S125C |
possibly damaging |
Het |
Hormad2 |
T |
C |
11: 4,358,714 (GRCm39) |
K231R |
probably benign |
Het |
Kif17 |
A |
C |
4: 138,005,220 (GRCm39) |
K262Q |
probably damaging |
Het |
Kif20a |
G |
A |
18: 34,761,444 (GRCm39) |
S279N |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,741,450 (GRCm39) |
N441D |
probably damaging |
Het |
Lta4h |
G |
T |
10: 93,318,126 (GRCm39) |
L515F |
possibly damaging |
Het |
Mavs |
T |
C |
2: 131,088,470 (GRCm39) |
S425P |
probably benign |
Het |
Mcat |
A |
C |
15: 83,439,592 (GRCm39) |
D99E |
probably damaging |
Het |
Nav2 |
C |
A |
7: 49,195,765 (GRCm39) |
T1047K |
probably benign |
Het |
Neb |
T |
A |
2: 52,099,657 (GRCm39) |
Y4731F |
probably damaging |
Het |
Nectin4 |
G |
C |
1: 171,211,325 (GRCm39) |
R283P |
probably null |
Het |
Notch3 |
G |
A |
17: 32,377,086 (GRCm39) |
T273I |
probably damaging |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or5i1 |
A |
T |
2: 87,613,830 (GRCm39) |
*317C |
probably null |
Het |
Or6b2b |
T |
G |
1: 92,419,247 (GRCm39) |
I77L |
possibly damaging |
Het |
Or6z7 |
T |
A |
7: 6,483,868 (GRCm39) |
I96F |
possibly damaging |
Het |
Pcdha12 |
A |
T |
18: 37,155,638 (GRCm39) |
T786S |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,692,186 (GRCm39) |
K520E |
probably benign |
Het |
Piezo2 |
A |
C |
18: 63,208,801 (GRCm39) |
L1404R |
probably damaging |
Het |
Rtkn |
T |
C |
6: 83,128,897 (GRCm39) |
V464A |
probably damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,156,147 (GRCm39) |
F193S |
probably damaging |
Het |
Samd4 |
G |
A |
14: 47,122,374 (GRCm39) |
V33I |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,350,357 (GRCm39) |
L839P |
probably damaging |
Het |
Slc6a17 |
C |
A |
3: 107,380,985 (GRCm39) |
V507L |
probably benign |
Het |
Stradb |
C |
A |
1: 59,030,356 (GRCm39) |
N203K |
unknown |
Het |
Tenm2 |
T |
C |
11: 35,960,196 (GRCm39) |
T1044A |
possibly damaging |
Het |
Tmem245 |
A |
C |
4: 56,886,037 (GRCm39) |
W860G |
probably damaging |
Het |
Tpst2 |
G |
A |
5: 112,455,803 (GRCm39) |
R114H |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,036,460 (GRCm39) |
D920N |
possibly damaging |
Het |
Vmn1r59 |
T |
A |
7: 5,456,966 (GRCm39) |
I265L |
probably benign |
Het |
Zbtb20 |
A |
C |
16: 43,439,100 (GRCm39) |
D667A |
probably damaging |
Het |
Zbtb4 |
T |
A |
11: 69,668,309 (GRCm39) |
I344N |
probably damaging |
Het |
Zdbf2 |
T |
A |
1: 63,343,234 (GRCm39) |
C538S |
possibly damaging |
Het |
Zmym6 |
A |
T |
4: 127,016,355 (GRCm39) |
H712L |
probably damaging |
Het |
|
Other mutations in Rrbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01330:Rrbp1
|
APN |
2 |
143,810,538 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01636:Rrbp1
|
APN |
2 |
143,789,815 (GRCm39) |
unclassified |
probably benign |
|
IGL01923:Rrbp1
|
APN |
2 |
143,832,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02513:Rrbp1
|
APN |
2 |
143,830,350 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02548:Rrbp1
|
APN |
2 |
143,791,679 (GRCm39) |
splice site |
probably benign |
|
IGL02678:Rrbp1
|
APN |
2 |
143,832,107 (GRCm39) |
missense |
probably damaging |
0.98 |
FR4449:Rrbp1
|
UTSW |
2 |
143,809,376 (GRCm39) |
frame shift |
probably null |
|
PIT4378001:Rrbp1
|
UTSW |
2 |
143,816,460 (GRCm39) |
missense |
probably benign |
0.00 |
R0127:Rrbp1
|
UTSW |
2 |
143,831,864 (GRCm39) |
missense |
probably benign |
0.21 |
R0611:Rrbp1
|
UTSW |
2 |
143,830,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R0881:Rrbp1
|
UTSW |
2 |
143,795,173 (GRCm39) |
missense |
probably benign |
0.09 |
R1439:Rrbp1
|
UTSW |
2 |
143,797,032 (GRCm39) |
critical splice donor site |
probably null |
|
R1534:Rrbp1
|
UTSW |
2 |
143,830,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Rrbp1
|
UTSW |
2 |
143,831,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R1920:Rrbp1
|
UTSW |
2 |
143,830,211 (GRCm39) |
missense |
probably benign |
0.16 |
R1921:Rrbp1
|
UTSW |
2 |
143,830,211 (GRCm39) |
missense |
probably benign |
0.16 |
R2152:Rrbp1
|
UTSW |
2 |
143,796,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2153:Rrbp1
|
UTSW |
2 |
143,796,118 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2319:Rrbp1
|
UTSW |
2 |
143,799,479 (GRCm39) |
missense |
probably benign |
0.01 |
R2850:Rrbp1
|
UTSW |
2 |
143,791,269 (GRCm39) |
missense |
probably benign |
0.09 |
R2864:Rrbp1
|
UTSW |
2 |
143,799,557 (GRCm39) |
missense |
probably damaging |
0.99 |
R3433:Rrbp1
|
UTSW |
2 |
143,794,200 (GRCm39) |
splice site |
probably benign |
|
R3707:Rrbp1
|
UTSW |
2 |
143,795,197 (GRCm39) |
missense |
probably benign |
0.01 |
R3837:Rrbp1
|
UTSW |
2 |
143,831,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R4073:Rrbp1
|
UTSW |
2 |
143,805,030 (GRCm39) |
missense |
probably benign |
0.16 |
R4074:Rrbp1
|
UTSW |
2 |
143,805,030 (GRCm39) |
missense |
probably benign |
0.16 |
R4076:Rrbp1
|
UTSW |
2 |
143,805,030 (GRCm39) |
missense |
probably benign |
0.16 |
R4279:Rrbp1
|
UTSW |
2 |
143,805,028 (GRCm39) |
missense |
probably benign |
0.16 |
R4583:Rrbp1
|
UTSW |
2 |
143,830,671 (GRCm39) |
missense |
probably benign |
0.03 |
R4820:Rrbp1
|
UTSW |
2 |
143,806,685 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4829:Rrbp1
|
UTSW |
2 |
143,831,607 (GRCm39) |
missense |
probably benign |
0.18 |
R4836:Rrbp1
|
UTSW |
2 |
143,830,337 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5589:Rrbp1
|
UTSW |
2 |
143,831,886 (GRCm39) |
missense |
probably benign |
0.16 |
R5801:Rrbp1
|
UTSW |
2 |
143,831,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Rrbp1
|
UTSW |
2 |
143,805,251 (GRCm39) |
missense |
probably benign |
0.16 |
R5955:Rrbp1
|
UTSW |
2 |
143,791,597 (GRCm39) |
missense |
probably benign |
0.06 |
R6102:Rrbp1
|
UTSW |
2 |
143,830,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R6368:Rrbp1
|
UTSW |
2 |
143,831,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Rrbp1
|
UTSW |
2 |
143,816,518 (GRCm39) |
missense |
probably benign |
0.03 |
R7022:Rrbp1
|
UTSW |
2 |
143,799,722 (GRCm39) |
splice site |
probably null |
|
R7061:Rrbp1
|
UTSW |
2 |
143,831,087 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7136:Rrbp1
|
UTSW |
2 |
143,791,600 (GRCm39) |
missense |
probably benign |
0.16 |
R7291:Rrbp1
|
UTSW |
2 |
143,811,382 (GRCm39) |
missense |
probably benign |
0.09 |
R7361:Rrbp1
|
UTSW |
2 |
143,809,364 (GRCm39) |
missense |
probably benign |
0.01 |
R7816:Rrbp1
|
UTSW |
2 |
143,830,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:Rrbp1
|
UTSW |
2 |
143,789,815 (GRCm39) |
unclassified |
probably benign |
|
R7968:Rrbp1
|
UTSW |
2 |
143,832,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Rrbp1
|
UTSW |
2 |
143,798,712 (GRCm39) |
missense |
probably benign |
0.42 |
R8439:Rrbp1
|
UTSW |
2 |
143,797,053 (GRCm39) |
missense |
probably benign |
0.23 |
R8469:Rrbp1
|
UTSW |
2 |
143,831,661 (GRCm39) |
missense |
probably damaging |
0.98 |
R8485:Rrbp1
|
UTSW |
2 |
143,796,933 (GRCm39) |
missense |
probably benign |
0.09 |
R8526:Rrbp1
|
UTSW |
2 |
143,816,403 (GRCm39) |
missense |
probably benign |
0.33 |
R8534:Rrbp1
|
UTSW |
2 |
143,830,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R8556:Rrbp1
|
UTSW |
2 |
143,831,045 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8735:Rrbp1
|
UTSW |
2 |
143,830,920 (GRCm39) |
nonsense |
probably null |
|
R9258:Rrbp1
|
UTSW |
2 |
143,853,161 (GRCm39) |
start gained |
probably benign |
|
R9326:Rrbp1
|
UTSW |
2 |
143,806,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R9419:Rrbp1
|
UTSW |
2 |
143,811,436 (GRCm39) |
missense |
probably benign |
0.09 |
R9585:Rrbp1
|
UTSW |
2 |
143,799,479 (GRCm39) |
missense |
probably benign |
0.01 |
R9660:Rrbp1
|
UTSW |
2 |
143,831,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Rrbp1
|
UTSW |
2 |
143,832,099 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Rrbp1
|
UTSW |
2 |
143,816,406 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rrbp1
|
UTSW |
2 |
143,811,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGCAGTGGGGACTGAAGTAC -3'
(R):5'- TTACTCTTCCTATGTCTCTGAGGAG -3'
Sequencing Primer
(F):5'- GGACTGAAGTACCTGCACTCAG -3'
(R):5'- ATGTCTCTGAGGAGTCTCTCTC -3'
|
Posted On |
2020-07-28 |