Incidental Mutation 'R7877:Rrbp1'
| ID |
608478 |
| 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 |
045929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R7877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 143789815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000103172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000016072
AA Change: V1464D
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: V1464D
| 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 benign
Transcript: ENSMUST00000103172
|
| SMART Domains |
Protein: ENSMUSP00000099461
Gene: ENSMUSG00000015932
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
19 |
153 |
2.67e-52 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154649
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,220,665 (GRCm39) |
C388Y |
probably damaging |
Het |
| 4930522L14Rik |
G |
A |
5: 109,884,230 (GRCm39) |
H543Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,046,135 (GRCm39) |
V1711E |
possibly damaging |
Het |
| Abca3 |
A |
T |
17: 24,602,997 (GRCm39) |
K531* |
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,752,729 (GRCm39) |
D557V |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,842,467 (GRCm39) |
E865G |
probably benign |
Het |
| Adprhl1 |
T |
A |
8: 13,275,316 (GRCm39) |
R481* |
probably null |
Het |
| Afap1l1 |
T |
A |
18: 61,879,853 (GRCm39) |
D339V |
probably damaging |
Het |
| Atp9b |
T |
A |
18: 80,890,412 (GRCm39) |
H309L |
|
Het |
| Baiap3 |
A |
G |
17: 25,470,112 (GRCm39) |
V122A |
probably damaging |
Het |
| Btg4 |
T |
C |
9: 51,029,240 (GRCm39) |
S142P |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,914,665 (GRCm39) |
T865S |
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,131,661 (GRCm39) |
Y964C |
unknown |
Het |
| Cenpo |
A |
T |
12: 4,264,573 (GRCm39) |
F273Y |
probably damaging |
Het |
| Cfap96 |
T |
A |
8: 46,423,436 (GRCm39) |
K92M |
probably damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,987 (GRCm39) |
D196E |
probably damaging |
Het |
| Clec4n |
T |
C |
6: 123,209,063 (GRCm39) |
F43L |
probably benign |
Het |
| Colgalt1 |
T |
A |
8: 72,074,508 (GRCm39) |
C407S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,906,830 (GRCm39) |
|
probably null |
Het |
| Cyp2b23 |
T |
A |
7: 26,385,851 (GRCm39) |
E2V |
probably damaging |
Het |
| Cyp51 |
T |
A |
5: 4,152,929 (GRCm39) |
K91M |
probably damaging |
Het |
| Cyria |
A |
C |
12: 12,414,798 (GRCm39) |
Y263S |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,882,348 (GRCm39) |
G640V |
probably benign |
Het |
| Dnajc2 |
G |
T |
5: 21,965,637 (GRCm39) |
S505R |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,053 (GRCm39) |
L110H |
probably damaging |
Het |
| Fem1b |
T |
A |
9: 62,703,844 (GRCm39) |
Y472F |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,932,049 (GRCm39) |
|
probably null |
Het |
| Gabrg1 |
A |
T |
5: 70,973,415 (GRCm39) |
D46E |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,266,161 (GRCm39) |
K627E |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,491,900 (GRCm39) |
D776G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,467,575 (GRCm39) |
V207A |
possibly damaging |
Het |
| Gm7298 |
T |
A |
6: 121,759,741 (GRCm39) |
Y1213* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,604,033 (GRCm39) |
L74* |
probably null |
Het |
| Hc |
A |
T |
2: 34,887,411 (GRCm39) |
Y1364* |
probably null |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,443,302 (GRCm39) |
S186R |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,582 (GRCm39) |
I374V |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,311,490 (GRCm39) |
L975P |
probably damaging |
Het |
| Intu |
G |
A |
3: 40,654,222 (GRCm39) |
V905I |
probably benign |
Het |
| Large1 |
T |
A |
8: 73,843,071 (GRCm39) |
R151W |
probably damaging |
Het |
| Limd2 |
G |
A |
11: 106,050,004 (GRCm39) |
T24M |
probably benign |
Het |
| Med16 |
A |
T |
10: 79,734,206 (GRCm39) |
C569* |
probably null |
Het |
| Mettl1 |
T |
G |
10: 126,880,390 (GRCm39) |
V104G |
possibly damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,900 (GRCm39) |
T61A |
probably benign |
Het |
| Mrps31 |
T |
A |
8: 22,914,367 (GRCm39) |
Y238N |
probably benign |
Het |
| Mrs2 |
T |
C |
13: 25,181,113 (GRCm39) |
E236G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Noxred1 |
G |
A |
12: 87,271,761 (GRCm39) |
A136V |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,024,588 (GRCm39) |
D484V |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,431 (GRCm39) |
G206R |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,882,434 (GRCm39) |
C680Y |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,241 (GRCm39) |
F1614S |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,147,235 (GRCm39) |
M1129V |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,572,928 (GRCm39) |
T7I |
unknown |
Het |
| Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,253 (GRCm39) |
I104N |
probably benign |
Het |
| Slc35c1 |
A |
T |
2: 92,289,402 (GRCm39) |
W48R |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,910,886 (GRCm39) |
C317S |
probably damaging |
Het |
| Smim13 |
G |
T |
13: 41,403,650 (GRCm39) |
|
probably benign |
Het |
| Snrpg |
T |
C |
6: 86,355,761 (GRCm39) |
V76A |
probably benign |
Het |
| Sntb2 |
C |
T |
8: 107,738,164 (GRCm39) |
T509I |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,079,601 (GRCm39) |
D1276G |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,794,290 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Stau1 |
T |
A |
2: 166,792,787 (GRCm39) |
N393Y |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,653,401 (GRCm39) |
S500T |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 56,993,488 (GRCm39) |
D559E |
probably benign |
Het |
| Trav14-2 |
T |
C |
14: 53,878,508 (GRCm39) |
Y64H |
possibly damaging |
Het |
| Trpm3 |
A |
C |
19: 22,882,148 (GRCm39) |
E838D |
probably benign |
Het |
| Vmn1r23 |
G |
A |
6: 57,903,541 (GRCm39) |
A79V |
probably benign |
Het |
| Vmn1r48 |
G |
T |
6: 90,013,431 (GRCm39) |
N131K |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,437 (GRCm39) |
M229K |
probably damaging |
Het |
| Zbtb4 |
G |
A |
11: 69,666,863 (GRCm39) |
R56K |
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,975,188 (GRCm39) |
G486W |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,704,580 (GRCm39) |
F453Y |
possibly 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 |
|
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'- AGGTTCTCTTACAGACTGGGG -3'
(R):5'- GGTTCCTCTCATCATAGGGTCAC -3'
Sequencing Primer
(F):5'- TTACAGACTGGGGTTCCGCAAG -3'
(R):5'- AGTTCCTGTGCATGCACC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation