Incidental Mutation 'R8469:Rrbp1'
ID |
656941 |
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 |
067913-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R8469 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143831661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 169
(I169V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000037875]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016072
AA Change: I169V
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000016072 Gene: ENSMUSG00000027422 AA Change: I169V
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037875
AA Change: I169V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040560 Gene: ENSMUSG00000027422 AA Change: I169V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:Rib_recp_KP_reg
|
33 |
173 |
2.8e-47 |
PFAM |
low complexity region
|
197 |
215 |
N/A |
INTRINSIC |
Blast:KISc
|
470 |
652 |
3e-13 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
A |
G |
16: 90,852,797 (GRCm39) |
F113S |
probably damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,190 (GRCm39) |
Y189H |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,240,457 (GRCm39) |
D210G |
possibly damaging |
Het |
Adam28 |
C |
T |
14: 68,844,029 (GRCm39) |
V774I |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,500,264 (GRCm39) |
|
probably null |
Het |
Atg2b |
A |
T |
12: 105,604,170 (GRCm39) |
I1577N |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,978,834 (GRCm39) |
S827P |
possibly damaging |
Het |
Carmil1 |
A |
T |
13: 24,296,011 (GRCm39) |
C377S |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,090,083 (GRCm39) |
E112G |
possibly damaging |
Het |
Cyp4f39 |
C |
A |
17: 32,711,340 (GRCm39) |
R496S |
probably damaging |
Het |
Dmgdh |
G |
A |
13: 93,843,175 (GRCm39) |
R337Q |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,813,895 (GRCm39) |
F345S |
probably damaging |
Het |
Dst |
A |
G |
1: 34,268,109 (GRCm39) |
R2844G |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,845,186 (GRCm39) |
I353L |
unknown |
Het |
Fam78a |
A |
G |
2: 31,959,345 (GRCm39) |
V255A |
possibly damaging |
Het |
Ino80 |
T |
A |
2: 119,210,074 (GRCm39) |
I1406L |
probably benign |
Het |
Itga11 |
T |
C |
9: 62,678,680 (GRCm39) |
F949S |
probably benign |
Het |
Jmjd7 |
G |
A |
2: 119,860,643 (GRCm39) |
A57T |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,724,804 (GRCm39) |
T269A |
probably benign |
Het |
Lgi4 |
A |
T |
7: 30,767,065 (GRCm39) |
D364V |
probably damaging |
Het |
Lrp12 |
T |
C |
15: 39,735,791 (GRCm39) |
T733A |
probably damaging |
Het |
Marchf7 |
T |
A |
2: 60,064,670 (GRCm39) |
N315K |
probably benign |
Het |
Methig1 |
A |
G |
15: 100,251,130 (GRCm39) |
I14V |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,481,223 (GRCm39) |
M1K |
probably null |
Het |
Nras |
A |
G |
3: 102,966,217 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,425,366 (GRCm39) |
T1508A |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,019,063 (GRCm39) |
T917A |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,090,347 (GRCm39) |
V21A |
possibly damaging |
Het |
Pcdha5 |
T |
A |
18: 37,094,798 (GRCm39) |
W436R |
probably benign |
Het |
Pde4d |
T |
C |
13: 108,996,722 (GRCm39) |
V8A |
probably benign |
Het |
Pou4f3 |
C |
T |
18: 42,528,339 (GRCm39) |
T94M |
probably benign |
Het |
Prdm6 |
G |
T |
18: 53,597,758 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
C |
12: 55,786,198 (GRCm39) |
R674G |
probably damaging |
Het |
Rcc1 |
A |
G |
4: 132,061,445 (GRCm39) |
S368P |
probably damaging |
Het |
Rcn2 |
T |
A |
9: 55,952,485 (GRCm39) |
V110E |
probably benign |
Het |
Reep4 |
T |
A |
14: 70,783,180 (GRCm39) |
|
probably null |
Het |
Slc2a6 |
T |
C |
2: 26,914,347 (GRCm39) |
S257G |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,982,627 (GRCm39) |
R612G |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,340,434 (GRCm39) |
T529A |
probably benign |
Het |
Triobp |
A |
G |
15: 78,851,219 (GRCm39) |
S458G |
probably benign |
Het |
Zfp729a |
G |
T |
13: 67,769,481 (GRCm39) |
H249Q |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,544,572 (GRCm39) |
I445T |
possibly 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 |
R8306:Rrbp1
|
UTSW |
2 |
143,792,416 (GRCm39) |
missense |
probably benign |
0.02 |
R8439:Rrbp1
|
UTSW |
2 |
143,797,053 (GRCm39) |
missense |
probably benign |
0.23 |
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'- TTAGCTTGGTTCTGAGCCCC -3'
(R):5'- AGTCCATTCTTCTGTGGGCC -3'
Sequencing Primer
(F):5'- TAGCCTGGTTCTGGGCTCC -3'
(R):5'- ATTCTTCTGTGGGCCATACC -3'
|
Posted On |
2021-01-18 |