Incidental Mutation 'IGL01330:Rrbp1'
ID |
74466 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
IGL01330
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 143810538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 847
(E847D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016072
AA Change: E847D
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000016072 Gene: ENSMUSG00000027422 AA Change: E847D
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: ENSMUST00000132434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136068
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
Mpped1 |
T |
A |
15: 83,684,320 (GRCm39) |
I114N |
probably damaging |
Het |
Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
Prkacb |
T |
G |
3: 146,457,266 (GRCm39) |
N79T |
probably damaging |
Het |
Psd3 |
A |
C |
8: 68,149,830 (GRCm39) |
Y1222D |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
T |
C |
8: 4,786,372 (GRCm39) |
T577A |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
Zfp568 |
A |
G |
7: 29,721,702 (GRCm39) |
M215V |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,956,483 (GRCm39) |
D255G |
possibly damaging |
Het |
|
Other mutations in Rrbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
Posted On |
2013-10-07 |