Incidental Mutation 'PIT4378001:Rrbp1'
| ID |
554969 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
PIT4378001 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143816460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 723
(V723A)
|
| 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
AA Change: V723A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: V723A
| 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: 93.1%
- 3x: 90.8%
- 10x: 85.0%
- 20x: 72.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
T |
C |
11: 59,099,802 (GRCm39) |
V100A |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,117,601 (GRCm39) |
V188A |
possibly damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,646 (GRCm39) |
D80G |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,163,021 (GRCm39) |
L14P |
probably damaging |
Het |
| Arrdc1 |
T |
A |
2: 24,816,645 (GRCm39) |
Y177F |
probably damaging |
Het |
| Asap1 |
C |
T |
15: 64,007,697 (GRCm39) |
R384Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,096,443 (GRCm39) |
V433D |
probably benign |
Het |
| Bbs1 |
G |
A |
19: 4,941,703 (GRCm39) |
A529V |
probably benign |
Het |
| Bbx |
G |
A |
16: 50,100,836 (GRCm39) |
R20* |
probably null |
Het |
| Bend5 |
T |
C |
4: 111,288,304 (GRCm39) |
V106A |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,944 (GRCm39) |
N8S |
probably benign |
Het |
| Cdc42ep1 |
G |
A |
15: 78,733,880 (GRCm39) |
D327N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Cep43 |
T |
C |
17: 8,401,105 (GRCm39) |
S209P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,945,728 (GRCm39) |
T3562A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,570,362 (GRCm39) |
S1815P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,697,320 (GRCm39) |
L136Q |
probably damaging |
Het |
| Extl2 |
T |
G |
3: 115,804,339 (GRCm39) |
M1R |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,104 (GRCm39) |
E473G |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,889 (GRCm39) |
D1618N |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,637,858 (GRCm39) |
L147P |
probably damaging |
Het |
| G6pc3 |
T |
A |
11: 102,080,827 (GRCm39) |
W26R |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,921,876 (GRCm39) |
Y610F |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,552,368 (GRCm39) |
D77G |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,816,860 (GRCm39) |
V497A |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
A |
C |
9: 44,302,148 (GRCm39) |
D968A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,065,692 (GRCm39) |
S1525T |
probably damaging |
Het |
| Kcnc4 |
G |
A |
3: 107,354,879 (GRCm39) |
T523I |
probably benign |
Het |
| Kcng1 |
C |
T |
2: 168,104,604 (GRCm39) |
C414Y |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,938,358 (GRCm39) |
T194S |
probably benign |
Het |
| Krt76 |
A |
C |
15: 101,800,842 (GRCm39) |
N151K |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,542 (GRCm39) |
T125A |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,831,238 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Lats1 |
T |
G |
10: 7,581,369 (GRCm39) |
V718G |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,616,910 (GRCm39) |
K4E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,624,537 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,070,620 (GRCm39) |
V577A |
possibly damaging |
Het |
| Mtcl1 |
T |
G |
17: 66,745,274 (GRCm39) |
N381T |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,647,688 (GRCm39) |
|
probably null |
Het |
| Nol4 |
C |
A |
18: 23,172,933 (GRCm39) |
W56L |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,272 (GRCm39) |
D1849V |
probably damaging |
Het |
| Or10ad1 |
G |
A |
15: 98,105,452 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,381 (GRCm39) |
T207A |
probably benign |
Het |
| Or14c45 |
A |
T |
7: 86,176,306 (GRCm39) |
T114S |
possibly damaging |
Het |
| Or4n4b |
T |
C |
14: 50,536,355 (GRCm39) |
N137S |
probably benign |
Het |
| Or5an10 |
A |
G |
19: 12,276,076 (GRCm39) |
M140T |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,471 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8s5 |
A |
G |
15: 98,238,153 (GRCm39) |
V239A |
possibly damaging |
Het |
| Oxr1 |
G |
A |
15: 41,664,978 (GRCm39) |
V138I |
probably benign |
Het |
| Pars2 |
A |
G |
4: 106,511,490 (GRCm39) |
E424G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,405,726 (GRCm39) |
Y50* |
probably null |
Het |
| Plag1 |
T |
A |
4: 3,905,492 (GRCm39) |
H66L |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,801,423 (GRCm39) |
S1016C |
probably damaging |
Het |
| Sgip1 |
C |
A |
4: 102,778,280 (GRCm39) |
D292E |
unknown |
Het |
| Skint4 |
T |
A |
4: 111,944,232 (GRCm39) |
C23S |
probably benign |
Het |
| Slc22a28 |
A |
C |
19: 8,049,279 (GRCm39) |
S323R |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,891 (GRCm39) |
T306A |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,987,445 (GRCm39) |
M868V |
probably damaging |
Het |
| Spata6 |
T |
G |
4: 111,603,378 (GRCm39) |
I31S |
possibly damaging |
Het |
| Sycp3 |
A |
T |
10: 88,302,366 (GRCm39) |
K119* |
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,172,046 (GRCm39) |
S739T |
unknown |
Het |
| Trim10 |
T |
C |
17: 37,188,020 (GRCm39) |
V412A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,211,765 (GRCm39) |
F377I |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,143,681 (GRCm39) |
Y122H |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,530,377 (GRCm39) |
R152* |
probably null |
Het |
| Usp44 |
A |
G |
10: 93,681,517 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
A |
C |
11: 68,980,564 (GRCm39) |
D44A |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,304,849 (GRCm39) |
T20A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,221,784 (GRCm39) |
I812N |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,943 (GRCm39) |
L231R |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,859,333 (GRCm39) |
T677A |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,148,100 (GRCm39) |
S221R |
possibly damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,983 (GRCm39) |
E125G |
possibly damaging |
Het |
| Zxdc |
A |
T |
6: 90,350,698 (GRCm39) |
H383L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTGGAAACATTCTCGTTGC -3'
(R):5'- AGGAAGTTCACTGTACCAGC -3'
Sequencing Primer
(F):5'- GAAACATTCTCGTTGCAGTCGGAC -3'
(R):5'- GGAAGTTCACTGTACCAGCCTAAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation