Incidental Mutation 'IGL02678:Rrbp1'
ID |
303244 |
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 # |
IGL02678
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143832107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 20
(V20A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000037875]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016072
AA Change: V20A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000016072 Gene: ENSMUSG00000027422 AA Change: V20A
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: V20A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040560 Gene: ENSMUSG00000027422 AA Change: V20A
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,035,867 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,410,177 (GRCm39) |
E272G |
probably damaging |
Het |
Alcam |
G |
A |
16: 52,094,401 (GRCm39) |
P416S |
probably damaging |
Het |
B3galt1 |
A |
G |
2: 67,949,254 (GRCm39) |
H323R |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,163,697 (GRCm39) |
S665N |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,956,898 (GRCm39) |
S3631P |
probably damaging |
Het |
Capn3 |
A |
C |
2: 120,333,479 (GRCm39) |
N621T |
probably damaging |
Het |
Cblif |
T |
C |
19: 11,725,839 (GRCm39) |
M43T |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,437,151 (GRCm39) |
H480Y |
probably damaging |
Het |
Ccr2 |
T |
A |
9: 123,906,783 (GRCm39) |
D354E |
probably benign |
Het |
Cdc42bpb |
T |
G |
12: 111,292,530 (GRCm39) |
D335A |
probably damaging |
Het |
Cdcp3 |
A |
G |
7: 130,830,646 (GRCm39) |
Y360C |
probably damaging |
Het |
Chrd |
G |
T |
16: 20,552,770 (GRCm39) |
R89L |
probably damaging |
Het |
Cops2 |
T |
C |
2: 125,686,831 (GRCm39) |
R91G |
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,266,106 (GRCm39) |
T88A |
probably benign |
Het |
Dnai1 |
A |
C |
4: 41,602,917 (GRCm39) |
E140A |
probably benign |
Het |
Eif1ad17 |
C |
A |
12: 87,978,946 (GRCm39) |
P110Q |
possibly damaging |
Het |
Gcn1 |
A |
G |
5: 115,751,814 (GRCm39) |
D2063G |
probably damaging |
Het |
Gdpd4 |
A |
T |
7: 97,623,584 (GRCm39) |
|
probably benign |
Het |
Gng7 |
C |
A |
10: 80,787,518 (GRCm39) |
L48F |
probably damaging |
Het |
Htt |
G |
T |
5: 35,057,246 (GRCm39) |
C2725F |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,583,373 (GRCm39) |
K159R |
probably damaging |
Het |
Insr |
G |
T |
8: 3,223,570 (GRCm39) |
N854K |
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,971,610 (GRCm39) |
|
probably null |
Het |
Lcat |
A |
G |
8: 106,668,572 (GRCm39) |
|
probably null |
Het |
Mb21d2 |
T |
C |
16: 28,646,801 (GRCm39) |
E391G |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,942,915 (GRCm39) |
S354P |
possibly damaging |
Het |
Mx2 |
G |
A |
16: 97,357,320 (GRCm39) |
|
probably null |
Het |
Mycl |
G |
A |
4: 122,893,776 (GRCm39) |
R192Q |
probably damaging |
Het |
Mzf1 |
A |
G |
7: 12,786,836 (GRCm39) |
V78A |
probably benign |
Het |
Nipbl |
G |
T |
15: 8,380,594 (GRCm39) |
P733T |
possibly damaging |
Het |
Nploc4 |
A |
G |
11: 120,280,198 (GRCm39) |
I450T |
probably benign |
Het |
Omd |
A |
T |
13: 49,745,757 (GRCm39) |
E389V |
probably benign |
Het |
Or8g30 |
C |
T |
9: 39,230,217 (GRCm39) |
S231N |
probably benign |
Het |
Oxgr1 |
A |
G |
14: 120,259,580 (GRCm39) |
L209P |
probably damaging |
Het |
Pak1 |
A |
C |
7: 97,543,209 (GRCm39) |
T291P |
probably damaging |
Het |
Pcmtd1 |
T |
A |
1: 7,240,045 (GRCm39) |
I338K |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,840,195 (GRCm39) |
D364G |
probably damaging |
Het |
Pomk |
G |
A |
8: 26,473,135 (GRCm39) |
P273S |
probably damaging |
Het |
Psg22 |
A |
T |
7: 18,453,418 (GRCm39) |
I38F |
probably damaging |
Het |
Rbks |
G |
T |
5: 31,830,757 (GRCm39) |
T42N |
probably damaging |
Het |
Six4 |
T |
C |
12: 73,159,408 (GRCm39) |
Y176C |
probably damaging |
Het |
Slc11a2 |
T |
A |
15: 100,310,081 (GRCm39) |
M9L |
possibly damaging |
Het |
Slc16a11 |
T |
C |
11: 70,106,242 (GRCm39) |
L112S |
probably damaging |
Het |
Slc25a28 |
A |
T |
19: 43,655,586 (GRCm39) |
|
probably benign |
Het |
Slc30a3 |
G |
A |
5: 31,245,676 (GRCm39) |
R237* |
probably null |
Het |
Slco1a8 |
A |
T |
6: 141,954,444 (GRCm39) |
Y10N |
probably damaging |
Het |
Smc1b |
G |
A |
15: 84,949,201 (GRCm39) |
R1237* |
probably null |
Het |
Smtn |
T |
C |
11: 3,476,353 (GRCm39) |
E585G |
possibly damaging |
Het |
Spatc1 |
A |
T |
15: 76,176,572 (GRCm39) |
D441V |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,545,426 (GRCm39) |
N2481D |
probably damaging |
Het |
Tnks2 |
A |
T |
19: 36,823,143 (GRCm39) |
I137F |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,849,649 (GRCm39) |
K1472E |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,708,660 (GRCm39) |
E1846* |
probably null |
Het |
Vwa8 |
A |
G |
14: 79,221,640 (GRCm39) |
D532G |
probably damaging |
Het |
Zfp268 |
A |
T |
4: 145,349,067 (GRCm39) |
H168L |
probably damaging |
Het |
Zfp977 |
G |
A |
7: 42,232,419 (GRCm39) |
T14I |
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 |
|
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 |
2015-04-16 |