Incidental Mutation 'R0611:Rrbp1'
| ID |
54687 |
| 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 |
038800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R0611 (G1)
|
| Quality Score |
193 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143830436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 577
(N577S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000037875]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016072
AA Change: N577S
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: N577S
| 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: N577S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: N577S
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,851,479 (GRCm39) |
M819K |
possibly damaging |
Het |
| Adamtsl3 |
T |
G |
7: 82,178,120 (GRCm39) |
C528G |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,004,870 (GRCm39) |
K148E |
probably benign |
Het |
| Akr1b1 |
A |
T |
6: 34,286,577 (GRCm39) |
D225E |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,655,653 (GRCm39) |
Q2931K |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,715,346 (GRCm39) |
K31E |
possibly damaging |
Het |
| Cdc37 |
A |
G |
9: 21,053,537 (GRCm39) |
I242T |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,816,524 (GRCm39) |
K1806N |
possibly damaging |
Het |
| Clpb |
T |
A |
7: 101,436,956 (GRCm39) |
I707N |
possibly damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Creb3l2 |
A |
T |
6: 37,311,416 (GRCm39) |
S458T |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 31,009,230 (GRCm39) |
T1109K |
possibly damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,373,011 (GRCm39) |
L425Q |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,941,167 (GRCm39) |
E239G |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,390,020 (GRCm39) |
K742E |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,371,717 (GRCm39) |
R889S |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,599,222 (GRCm39) |
M1859K |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,758,886 (GRCm39) |
N361K |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,935,646 (GRCm39) |
V139A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,019,200 (GRCm39) |
H35Q |
probably damaging |
Het |
| Fam163b |
C |
A |
2: 27,003,583 (GRCm39) |
V24F |
probably damaging |
Het |
| Gm14496 |
A |
T |
2: 181,636,904 (GRCm39) |
T121S |
probably benign |
Het |
| Gm4799 |
C |
T |
10: 82,790,563 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7168 |
A |
T |
17: 14,169,797 (GRCm39) |
D388V |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,953,386 (GRCm39) |
L460* |
probably null |
Het |
| Gpc6 |
T |
G |
14: 118,212,430 (GRCm39) |
F534V |
probably null |
Het |
| Hectd3 |
A |
G |
4: 116,853,241 (GRCm39) |
D156G |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,650,404 (GRCm39) |
I150T |
possibly damaging |
Het |
| Kansl1 |
A |
G |
11: 104,229,012 (GRCm39) |
M863T |
probably benign |
Het |
| Kcnb2 |
A |
T |
1: 15,780,664 (GRCm39) |
Y512F |
probably benign |
Het |
| Klhdc2 |
A |
T |
12: 69,347,053 (GRCm39) |
M73L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,932,073 (GRCm39) |
T667A |
probably benign |
Het |
| Lgsn |
A |
C |
1: 31,242,736 (GRCm39) |
I273L |
probably benign |
Het |
| Lilra5 |
A |
G |
7: 4,245,232 (GRCm39) |
D292G |
probably benign |
Het |
| Mrps27 |
C |
T |
13: 99,541,582 (GRCm39) |
R229C |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,416,173 (GRCm39) |
S3040A |
probably benign |
Het |
| Nat14 |
T |
C |
7: 4,926,275 (GRCm39) |
S7P |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,671,694 (GRCm39) |
I135V |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,248,944 (GRCm39) |
A30T |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,202,903 (GRCm39) |
D1370G |
probably null |
Het |
| Or1j15 |
C |
G |
2: 36,459,568 (GRCm39) |
|
probably null |
Het |
| Or4k15c |
G |
A |
14: 50,321,310 (GRCm39) |
T276I |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,400 (GRCm39) |
L209P |
probably damaging |
Het |
| Or5p79 |
T |
A |
7: 108,221,494 (GRCm39) |
N158K |
possibly damaging |
Het |
| Or8s10 |
T |
C |
15: 98,336,168 (GRCm39) |
S273P |
possibly damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,229 (GRCm39) |
A466V |
probably benign |
Het |
| Otud7a |
T |
A |
7: 63,385,638 (GRCm39) |
D367E |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,263 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,762,828 (GRCm39) |
V3767A |
unknown |
Het |
| Pclo |
T |
C |
5: 14,728,789 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
T |
7: 44,628,225 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,842,483 (GRCm39) |
F62S |
probably damaging |
Het |
| Rangrf |
T |
C |
11: 68,863,518 (GRCm39) |
S163G |
probably benign |
Het |
| Rgs12 |
C |
A |
5: 35,176,804 (GRCm39) |
A65E |
probably damaging |
Het |
| Septin11 |
A |
G |
5: 93,315,393 (GRCm39) |
H374R |
probably damaging |
Het |
| Serpina5 |
T |
G |
12: 104,070,046 (GRCm39) |
N314K |
probably benign |
Het |
| Sgce |
T |
C |
6: 4,689,621 (GRCm39) |
D395G |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,690,499 (GRCm39) |
N501I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,965 (GRCm39) |
D784G |
possibly damaging |
Het |
| Snapc2 |
A |
G |
8: 4,305,676 (GRCm39) |
D207G |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,529,738 (GRCm39) |
M1998I |
probably benign |
Het |
| Stk38 |
A |
C |
17: 29,194,907 (GRCm39) |
F280V |
possibly damaging |
Het |
| Tas2r126 |
A |
G |
6: 42,412,025 (GRCm39) |
K186R |
probably damaging |
Het |
| Tdp1 |
A |
C |
12: 99,875,970 (GRCm39) |
D307A |
probably benign |
Het |
| Tead2 |
A |
G |
7: 44,866,674 (GRCm39) |
D11G |
probably damaging |
Het |
| Tmco4 |
C |
A |
4: 138,747,383 (GRCm39) |
L211I |
probably damaging |
Het |
| Tmem183a |
A |
G |
1: 134,280,115 (GRCm39) |
F255S |
probably damaging |
Het |
| Tmem87a |
C |
T |
2: 120,205,929 (GRCm39) |
G349S |
possibly damaging |
Het |
| Tpte |
G |
A |
8: 22,826,549 (GRCm39) |
E377K |
possibly damaging |
Het |
| Trim32 |
T |
C |
4: 65,531,893 (GRCm39) |
F150S |
possibly damaging |
Het |
| Trpc7 |
T |
A |
13: 57,035,636 (GRCm39) |
K99M |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,491,381 (GRCm39) |
K195E |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,811,917 (GRCm39) |
P7S |
probably damaging |
Het |
| Ubxn2a |
G |
A |
12: 4,930,700 (GRCm39) |
T220I |
probably damaging |
Het |
| Ufd1 |
A |
G |
16: 18,633,626 (GRCm39) |
N17S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,102,509 (GRCm39) |
S958P |
probably damaging |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,824 (GRCm39) |
M198L |
probably damaging |
Het |
| Vmn2r84 |
G |
A |
10: 130,221,991 (GRCm39) |
A743V |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,007 (GRCm39) |
F891S |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,218,375 (GRCm39) |
T495A |
probably benign |
Het |
| Zfp81 |
A |
G |
17: 33,553,593 (GRCm39) |
I407T |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,843,874 (GRCm39) |
|
probably null |
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 |
|
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'- TGGGCAGGAGCCATCTCTGAC -3'
(R):5'- GAGGGAACCTCAAACCAAGGCAA -3'
Sequencing Primer
(F):5'- GACTTTTTACCCTGATTGGCAG -3'
(R):5'- CTCAAACCAAGGCAAGAAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation