Incidental Mutation 'R8735:Rrbp1'
| ID |
662955 |
| 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 |
068583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R8735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 143830920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 416
(Q416*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000037875]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016072
AA Change: Q416*
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: Q416*
| 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 null
Transcript: ENSMUST00000037875
AA Change: Q416*
|
| SMART Domains |
Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: Q416*
| 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 |
|
| Meta Mutation Damage Score |
0.9322 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,731 (GRCm39) |
F9S |
unknown |
Het |
| Abhd10 |
A |
G |
16: 45,557,997 (GRCm39) |
F101L |
probably damaging |
Het |
| Acp2 |
A |
G |
2: 91,034,651 (GRCm39) |
T93A |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,837,048 (GRCm39) |
|
probably benign |
Het |
| Aknad1 |
T |
A |
3: 108,682,615 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,822,785 (GRCm39) |
T485S |
probably benign |
Het |
| Caly |
G |
A |
7: 139,652,503 (GRCm39) |
R82C |
probably damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,786,343 (GRCm39) |
L8P |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,438,775 (GRCm39) |
L869* |
probably null |
Het |
| Cxxc1 |
A |
G |
18: 74,350,331 (GRCm39) |
K33E |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,533 (GRCm39) |
|
probably null |
Het |
| Cyp4a30b |
G |
A |
4: 115,309,976 (GRCm39) |
W59* |
probably null |
Het |
| Dennd4b |
T |
C |
3: 90,185,172 (GRCm39) |
V1204A |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,935,565 (GRCm39) |
D663E |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 187,933,205 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
C |
13: 31,090,822 (GRCm39) |
L261V |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,609,662 (GRCm39) |
L185S |
probably damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,728 (GRCm39) |
K280R |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,471,217 (GRCm39) |
M100K |
probably benign |
Het |
| Impdh2 |
G |
A |
9: 108,441,978 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
T |
A |
12: 4,721,474 (GRCm39) |
I1068K |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,584,783 (GRCm39) |
C169R |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,490,130 (GRCm39) |
S211G |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,066,530 (GRCm39) |
E1117V |
probably damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lsg1 |
T |
A |
16: 30,399,865 (GRCm39) |
|
probably null |
Het |
| Mab21l4 |
C |
T |
1: 93,082,208 (GRCm39) |
|
probably null |
Het |
| Msh3 |
A |
G |
13: 92,411,374 (GRCm39) |
S608P |
possibly damaging |
Het |
| Mslnl |
T |
A |
17: 25,964,062 (GRCm39) |
F464I |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,460,586 (GRCm39) |
K1493N |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,401,679 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
T |
1: 51,794,896 (GRCm39) |
F1065I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,345,136 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,881,027 (GRCm39) |
|
probably benign |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,497 (GRCm39) |
I300K |
probably damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,274 (GRCm39) |
V290A |
possibly damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,943,194 (GRCm39) |
T149A |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,396,690 (GRCm39) |
D31G |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,101,203 (GRCm39) |
V132E |
possibly damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,975 (GRCm39) |
L551Q |
possibly damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,311,808 (GRCm39) |
T190S |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,197,049 (GRCm39) |
T162S |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,136,234 (GRCm39) |
R908Q |
|
Het |
| Pnpla8 |
A |
G |
12: 44,330,222 (GRCm39) |
E258G |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,537,127 (GRCm39) |
S643T |
unknown |
Het |
| Rnf20 |
T |
G |
4: 49,655,964 (GRCm39) |
I970S |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,755,247 (GRCm39) |
V758D |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,319,577 (GRCm39) |
S609N |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,701,833 (GRCm39) |
E2941D |
probably damaging |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,825,687 (GRCm39) |
V561I |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,280,301 (GRCm39) |
D366E |
probably damaging |
Het |
| Slfn14 |
T |
G |
11: 83,174,715 (GRCm39) |
Q92P |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,077,770 (GRCm39) |
Y186F |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,453,410 (GRCm39) |
L309P |
possibly damaging |
Het |
| Smyd3 |
G |
T |
1: 178,920,482 (GRCm39) |
N217K |
probably benign |
Het |
| Spen |
T |
C |
4: 141,197,129 (GRCm39) |
T3547A |
probably benign |
Het |
| Suclg1 |
A |
T |
6: 73,253,729 (GRCm39) |
I126F |
unknown |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,798,702 (GRCm39) |
I660N |
possibly damaging |
Het |
| Trf |
A |
T |
9: 103,087,723 (GRCm39) |
V677D |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,302,452 (GRCm39) |
N532S |
probably benign |
Het |
| Trim37 |
T |
C |
11: 87,037,885 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,570,454 (GRCm39) |
N26813S |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,537 (GRCm39) |
V277D |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,077,951 (GRCm39) |
D873G |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,103,929 (GRCm39) |
T726A |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,240,775 (GRCm39) |
Y488H |
|
Het |
| Wdtc1 |
A |
T |
4: 133,031,511 (GRCm39) |
C236* |
probably null |
Het |
| Wnk4 |
A |
C |
11: 101,167,092 (GRCm39) |
S1083R |
unknown |
Het |
| Wwc1 |
A |
T |
11: 35,774,234 (GRCm39) |
I342N |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,725,957 (GRCm39) |
L534P |
probably damaging |
Het |
| Zfp62 |
T |
C |
11: 49,108,227 (GRCm39) |
C773R |
probably damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,027 (GRCm39) |
I152N |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
| Zscan18 |
A |
C |
7: 12,503,625 (GRCm39) |
S645A |
probably benign |
Het |
| Zw10 |
A |
G |
9: 48,988,861 (GRCm39) |
Y709C |
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 |
|
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 |
|
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'- TTGCTCTGACTTTGAACCCC -3'
(R):5'- TCAGAACCAGGCCAAGAAGG -3'
Sequencing Primer
(F):5'- GCCTTGGTTTTGGGCCCC -3'
(R):5'- CCAGGCCAAGAAGGGGGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation