Incidental Mutation 'R7061:Rrbp1'
ID |
548241 |
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 |
045384-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R7061 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143831087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 360
(K360R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(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: K360R
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000016072 Gene: ENSMUSG00000027422 AA Change: K360R
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: ENSMUST00000037875
AA Change: K360R
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000040560 Gene: ENSMUSG00000027422 AA Change: K360R
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aard |
G |
A |
15: 51,903,617 (GRCm39) |
M13I |
probably benign |
Het |
Abcb5 |
A |
C |
12: 118,841,509 (GRCm39) |
Y979D |
probably damaging |
Het |
Adgrb1 |
G |
C |
15: 74,441,730 (GRCm39) |
V4L |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,110,757 (GRCm39) |
R1006Q |
unknown |
Het |
Bpifa6 |
A |
T |
2: 153,834,236 (GRCm39) |
T343S |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,724,793 (GRCm39) |
C2957* |
probably null |
Het |
Chd6 |
G |
A |
2: 160,867,885 (GRCm39) |
Q428* |
probably null |
Het |
Col5a1 |
C |
A |
2: 27,915,690 (GRCm39) |
C191* |
probably null |
Het |
Cpox |
A |
G |
16: 58,491,223 (GRCm39) |
I145V |
possibly damaging |
Het |
Csnk2a1 |
C |
T |
2: 152,116,091 (GRCm39) |
R268C |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,739,038 (GRCm39) |
|
probably null |
Het |
Dennd5a |
T |
C |
7: 109,504,386 (GRCm39) |
E909G |
probably benign |
Het |
Depdc1a |
T |
A |
3: 159,228,489 (GRCm39) |
S414T |
possibly damaging |
Het |
Dock5 |
A |
G |
14: 68,007,703 (GRCm39) |
F1502S |
probably damaging |
Het |
Dop1b |
G |
T |
16: 93,558,951 (GRCm39) |
A448S |
probably benign |
Het |
Dsg1c |
C |
A |
18: 20,410,066 (GRCm39) |
N511K |
probably benign |
Het |
Epc2 |
G |
T |
2: 49,425,334 (GRCm39) |
R108L |
probably damaging |
Het |
Erp44 |
T |
A |
4: 48,219,375 (GRCm39) |
I147F |
probably benign |
Het |
Evc |
T |
C |
5: 37,476,446 (GRCm39) |
T368A |
possibly damaging |
Het |
Fbxo41 |
G |
T |
6: 85,452,448 (GRCm39) |
R738S |
probably benign |
Het |
Fli1 |
T |
C |
9: 32,335,518 (GRCm39) |
T305A |
probably damaging |
Het |
Grk5 |
A |
G |
19: 61,034,530 (GRCm39) |
T93A |
probably benign |
Het |
Grm2 |
A |
T |
9: 106,528,424 (GRCm39) |
N153K |
probably damaging |
Het |
Helz |
A |
G |
11: 107,540,003 (GRCm39) |
T1007A |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,882,307 (GRCm39) |
L162P |
probably damaging |
Het |
Hmgcr |
T |
A |
13: 96,802,656 (GRCm39) |
Q81L |
possibly damaging |
Het |
Hnrnpu |
T |
C |
1: 178,163,691 (GRCm39) |
K218E |
unknown |
Het |
Hydin |
A |
T |
8: 111,329,920 (GRCm39) |
I4885F |
possibly damaging |
Het |
Ibsp |
A |
G |
5: 104,457,768 (GRCm39) |
|
probably null |
Het |
Igfals |
T |
C |
17: 25,099,281 (GRCm39) |
L124P |
probably damaging |
Het |
Il24 |
T |
A |
1: 130,811,108 (GRCm39) |
H142L |
possibly damaging |
Het |
Iqca1l |
A |
G |
5: 24,750,063 (GRCm39) |
M660T |
probably benign |
Het |
Kcnh2 |
A |
T |
5: 24,536,920 (GRCm39) |
H221Q |
probably benign |
Het |
Man1a |
A |
G |
10: 53,796,331 (GRCm39) |
S454P |
probably damaging |
Het |
Meiosin |
A |
T |
7: 18,834,053 (GRCm39) |
|
probably benign |
Het |
Mfsd4b1 |
C |
T |
10: 39,879,382 (GRCm39) |
V172M |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,946,008 (GRCm39) |
I763K |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,955,749 (GRCm39) |
I594M |
possibly damaging |
Het |
Neo1 |
T |
A |
9: 58,897,724 (GRCm39) |
R77S |
possibly damaging |
Het |
Nlrp6 |
A |
G |
7: 140,502,780 (GRCm39) |
I265M |
probably benign |
Het |
Or52n5 |
T |
C |
7: 104,587,883 (GRCm39) |
L50P |
probably damaging |
Het |
Or5bw2 |
A |
G |
7: 6,573,782 (GRCm39) |
Y264C |
probably damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,942 (GRCm39) |
V276D |
possibly damaging |
Het |
Pcdhgb5 |
C |
A |
18: 37,864,976 (GRCm39) |
P257Q |
probably benign |
Het |
Phactr1 |
A |
G |
13: 43,286,457 (GRCm39) |
D586G |
probably damaging |
Het |
Pkn3 |
T |
A |
2: 29,973,548 (GRCm39) |
|
probably null |
Het |
Prob1 |
A |
T |
18: 35,787,553 (GRCm39) |
S234T |
probably benign |
Het |
Rab14 |
A |
T |
2: 35,073,429 (GRCm39) |
L131* |
probably null |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rhebl1 |
A |
G |
15: 98,777,164 (GRCm39) |
L103P |
probably damaging |
Het |
Rnf10 |
G |
T |
5: 115,395,149 (GRCm39) |
F146L |
probably damaging |
Het |
Slc6a9 |
C |
T |
4: 117,725,261 (GRCm39) |
T575I |
probably benign |
Het |
Smo |
A |
G |
6: 29,760,229 (GRCm39) |
H776R |
probably damaging |
Het |
Speer1f |
T |
C |
5: 11,469,071 (GRCm39) |
V74A |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,012,914 (GRCm39) |
M1V |
probably null |
Het |
Ttn |
C |
A |
2: 76,725,036 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,306,240 (GRCm39) |
M130L |
probably benign |
Het |
Urb2 |
C |
T |
8: 124,755,036 (GRCm39) |
H248Y |
probably benign |
Het |
Vit |
A |
T |
17: 78,932,585 (GRCm39) |
N564I |
probably damaging |
Het |
Vmn1r60 |
A |
T |
7: 5,547,310 (GRCm39) |
Y263* |
probably null |
Het |
Vmn2r16 |
A |
T |
5: 109,511,620 (GRCm39) |
Y609F |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,908,512 (GRCm39) |
I876V |
probably benign |
Het |
Zfp442 |
A |
G |
2: 150,249,937 (GRCm39) |
I655T |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,779,622 (GRCm39) |
C215S |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,069 (GRCm39) |
T173A |
probably benign |
Het |
Zfp69 |
A |
T |
4: 120,788,598 (GRCm39) |
V239D |
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 |
|
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'- TGCCTTGATTCTGGGCTCCT -3'
(R):5'- GGCTCAGAACCAAGCTAAGA -3'
Sequencing Primer
(F):5'- CCTTCTTGCCTTGGTTCTGGG -3'
(R):5'- CTCAGAACCAAGCTAAGAAGGGTG -3'
|
Posted On |
2019-05-13 |