Incidental Mutation 'R9326:Rrbp1'
| ID |
706501 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R9326 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143806744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 958
(T958M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016072
AA Change: T958M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: T958M
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| Adamts14 |
A |
G |
10: 61,036,238 (GRCm39) |
S1015P |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,854,886 (GRCm39) |
T252A |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,150,804 (GRCm39) |
S149T |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,652,205 (GRCm39) |
K399E |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,706,344 (GRCm39) |
S222C |
probably damaging |
Het |
| Ccdc88c |
C |
A |
12: 100,995,109 (GRCm39) |
|
probably benign |
Het |
| Cfap276 |
C |
T |
3: 108,451,931 (GRCm39) |
R159W |
probably damaging |
Het |
| Cip2a |
G |
A |
16: 48,834,235 (GRCm39) |
|
probably null |
Het |
| Cluh |
A |
G |
11: 74,554,902 (GRCm39) |
K780R |
probably benign |
Het |
| Cope |
C |
A |
8: 70,755,516 (GRCm39) |
F20L |
possibly damaging |
Het |
| Cps1 |
G |
T |
1: 67,248,795 (GRCm39) |
R1174L |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,049,803 (GRCm39) |
T2271I |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,616,359 (GRCm39) |
I192T |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,680,018 (GRCm39) |
T106A |
probably benign |
Het |
| Ddb2 |
A |
T |
2: 91,047,559 (GRCm39) |
M240K |
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,591,735 (GRCm39) |
V145D |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,749,008 (GRCm39) |
D268G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,801,886 (GRCm39) |
I716V |
probably benign |
Het |
| Epb41l4a |
G |
T |
18: 33,961,261 (GRCm39) |
Y424* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,554 (GRCm39) |
N277S |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,522,837 (GRCm39) |
L240P |
possibly damaging |
Het |
| Gpr87 |
T |
C |
3: 59,086,609 (GRCm39) |
T299A |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,369 (GRCm39) |
Y95H |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,205,416 (GRCm39) |
Y183C |
probably damaging |
Het |
| Ighv14-4 |
T |
A |
12: 114,140,469 (GRCm39) |
I7F |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,495,641 (GRCm39) |
I83F |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,931,745 (GRCm39) |
S609P |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,615 (GRCm39) |
E9G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,906,193 (GRCm39) |
F2421L |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,597,999 (GRCm39) |
I40F |
probably damaging |
Het |
| Lsm5 |
A |
T |
6: 56,681,616 (GRCm39) |
L13Q |
possibly damaging |
Het |
| Man2c1 |
G |
T |
9: 57,042,904 (GRCm39) |
C258F |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,120,023 (GRCm39) |
S28P |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,400,307 (GRCm39) |
V744E |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,656,287 (GRCm39) |
|
probably benign |
Het |
| N4bp3 |
C |
T |
11: 51,535,313 (GRCm39) |
R292H |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,369,063 (GRCm39) |
W354R |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,078,692 (GRCm39) |
S1074R |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,730 (GRCm39) |
M219K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,647 (GRCm39) |
H6R |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,346 (GRCm39) |
M277K |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,935 (GRCm39) |
V248A |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,900,506 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,768 (GRCm39) |
D103N |
probably benign |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Setd2 |
T |
C |
9: 110,378,671 (GRCm39) |
C829R |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,795,842 (GRCm39) |
R562* |
probably null |
Het |
| Snx27 |
A |
T |
3: 94,409,369 (GRCm39) |
Y526N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,791,010 (GRCm39) |
L483P |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,537,019 (GRCm39) |
S436P |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,957,983 (GRCm39) |
D37G |
probably damaging |
Het |
| Tmed8 |
A |
T |
12: 87,221,395 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmem161b |
T |
A |
13: 84,440,602 (GRCm39) |
L340* |
probably null |
Het |
| Tpr |
C |
T |
1: 150,301,407 (GRCm39) |
A1331V |
possibly damaging |
Het |
| Tprg1 |
G |
A |
16: 25,136,107 (GRCm39) |
E33K |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,930,627 (GRCm39) |
N123D |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,872,260 (GRCm39) |
S398N |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,111,509 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp975 |
G |
A |
7: 42,311,837 (GRCm39) |
R259* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,626,451 (GRCm39) |
H370Q |
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 |
|
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 |
|
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 |
|
|
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'- CACTGCCTAAGCCTCACTAG -3'
(R):5'- CTTTGCCCACTATCCAGAGAG -3'
Sequencing Primer
(F):5'- TACAGGTTCTACTCTGCACACAGTG -3'
(R):5'- GCACAGTAAATAGGATAGCCACATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation