Incidental Mutation 'R3433:Rrbp1'
| ID |
266274 |
| 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 |
040651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R3433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 143794200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
| 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 |
noncoding transcript
Transcript: ENSMUST00000135367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155539
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,455 (GRCm39) |
W1302R |
probably damaging |
Het |
| Abcf1 |
A |
G |
17: 36,269,109 (GRCm39) |
Y689H |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,178,725 (GRCm39) |
T218A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,987,358 (GRCm39) |
V2881L |
probably benign |
Het |
| Atp6v1b1 |
C |
A |
6: 83,720,074 (GRCm39) |
T3K |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,372,697 (GRCm39) |
R1112S |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,745,151 (GRCm39) |
D1331G |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,400,643 (GRCm39) |
F696S |
possibly damaging |
Het |
| Cd33 |
T |
C |
7: 43,179,331 (GRCm39) |
T273A |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,392,146 (GRCm39) |
C562Y |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,967,963 (GRCm39) |
R816G |
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,584,268 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
G |
10: 76,932,102 (GRCm39) |
L329P |
unknown |
Het |
| Dnah9 |
T |
C |
11: 65,965,938 (GRCm39) |
M1693V |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,454,613 (GRCm39) |
I701T |
probably damaging |
Het |
| Figla |
G |
T |
6: 85,994,411 (GRCm39) |
R62L |
probably damaging |
Het |
| Gca |
T |
G |
2: 62,520,318 (GRCm39) |
S159R |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm10845 |
C |
T |
14: 80,100,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
C |
7: 39,058,621 (GRCm39) |
K333E |
probably benign |
Het |
| Ift140 |
T |
C |
17: 25,255,282 (GRCm39) |
I466T |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,365 (GRCm39) |
K653E |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,426,742 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
T |
C |
2: 62,552,261 (GRCm39) |
D910G |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,145,131 (GRCm39) |
T177K |
probably benign |
Het |
| Lrrtm2 |
A |
C |
18: 35,346,950 (GRCm39) |
S117R |
probably damaging |
Het |
| Megf8 |
G |
T |
7: 25,059,549 (GRCm39) |
A2285S |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,035,571 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
T |
11: 77,708,870 (GRCm39) |
|
probably null |
Het |
| Nars1 |
A |
T |
18: 64,642,374 (GRCm39) |
M156K |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,137,823 (GRCm39) |
S499P |
possibly damaging |
Het |
| Or2a57 |
A |
T |
6: 43,212,607 (GRCm39) |
I22F |
probably damaging |
Het |
| Or2r11 |
G |
A |
6: 42,437,888 (GRCm39) |
H22Y |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,577 (GRCm39) |
I218V |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,331 (GRCm39) |
S1715A |
probably benign |
Het |
| Ptprd |
C |
A |
4: 76,004,248 (GRCm39) |
|
probably null |
Het |
| Ros1 |
A |
G |
10: 51,967,204 (GRCm39) |
Y1668H |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,444 (GRCm39) |
Y376C |
probably damaging |
Het |
| Seh1l |
A |
C |
18: 67,926,222 (GRCm39) |
K358T |
probably benign |
Het |
| Sema3e |
A |
T |
5: 14,302,728 (GRCm39) |
Y751F |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Spred2 |
G |
T |
11: 19,948,277 (GRCm39) |
E91* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,452,885 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
G |
6: 42,663,508 (GRCm39) |
V124A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,901,360 (GRCm39) |
|
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,906,052 (GRCm39) |
T493A |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,855 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,059,873 (GRCm39) |
F12L |
probably benign |
Het |
| Zfp13 |
G |
A |
17: 23,795,602 (GRCm39) |
T323I |
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 |
|
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 |
|
|
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'- TGCTAAGCTGCAGACACTCC -3'
(R):5'- CATGAGACAATGGGCAGGTGTC -3'
Sequencing Primer
(F):5'- GCTGCAGACACTCCACATGG -3'
(R):5'- GGTGTGAACTTCTGAGACATCAAACC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation