Incidental Mutation 'R7061:Rrbp1'
| ID |
548241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrbp1
|
| Ensembl Gene |
ENSMUSG00000027422 |
| Gene Name |
ribosome binding protein 1 |
| Synonyms |
mRRp15b, mRRp47, mRRp41, 5730465C04Rik, 1700087N07Rik, mRRp0, mRRp15a, mRRp16.8, mRRp10, mRRp5.4, ES/130, mRRp2, mRRp1.8, p180 |
| MMRRC Submission |
045384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R7061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143947395-144011263 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143989167 bp (GRCm38)
|
| 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 |
|---|
| 4931409K22Rik |
A |
G |
5: 24,545,065 (GRCm38) |
M660T |
probably benign |
Het |
| Aard |
G |
A |
15: 52,040,221 (GRCm38) |
M13I |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,877,774 (GRCm38) |
Y979D |
probably damaging |
Het |
| Adgrb1 |
G |
C |
15: 74,569,881 (GRCm38) |
V4L |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,461,009 (GRCm38) |
R1006Q |
unknown |
Het |
| Bpifa6 |
A |
T |
2: 153,992,316 (GRCm38) |
T343S |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,847,594 (GRCm38) |
C2957* |
probably null |
Het |
| Chd6 |
G |
A |
2: 161,025,965 (GRCm38) |
Q428* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 28,025,678 (GRCm38) |
C191* |
probably null |
Het |
| Cpox |
A |
G |
16: 58,670,860 (GRCm38) |
I145V |
possibly damaging |
Het |
| Csnk2a1 |
C |
T |
2: 152,274,171 (GRCm38) |
R268C |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,831,731 (GRCm38) |
|
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,905,179 (GRCm38) |
E909G |
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,522,852 (GRCm38) |
S414T |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 67,770,254 (GRCm38) |
F1502S |
probably damaging |
Het |
| Dopey2 |
G |
T |
16: 93,762,063 (GRCm38) |
A448S |
probably benign |
Het |
| Dsg1c |
C |
A |
18: 20,277,009 (GRCm38) |
N511K |
probably benign |
Het |
| Epc2 |
G |
T |
2: 49,535,322 (GRCm38) |
R108L |
probably damaging |
Het |
| Erp44 |
T |
A |
4: 48,219,375 (GRCm38) |
I147F |
probably benign |
Het |
| Evc |
T |
C |
5: 37,319,102 (GRCm38) |
T368A |
possibly damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,475,466 (GRCm38) |
R738S |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,424,222 (GRCm38) |
T305A |
probably damaging |
Het |
| Gm4969 |
A |
T |
7: 19,100,128 (GRCm38) |
|
probably benign |
Het |
| Gm8897 |
T |
C |
5: 11,419,104 (GRCm38) |
V74A |
possibly damaging |
Het |
| Grk5 |
A |
G |
19: 61,046,092 (GRCm38) |
T93A |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,651,225 (GRCm38) |
N153K |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,649,177 (GRCm38) |
T1007A |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 181,240,514 (GRCm38) |
L162P |
probably damaging |
Het |
| Hmgcr |
T |
A |
13: 96,666,148 (GRCm38) |
Q81L |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,336,126 (GRCm38) |
K218E |
unknown |
Het |
| Hydin |
A |
T |
8: 110,603,288 (GRCm38) |
I4885F |
possibly damaging |
Het |
| Ibsp |
A |
G |
5: 104,309,902 (GRCm38) |
|
probably null |
Het |
| Igfals |
T |
C |
17: 24,880,307 (GRCm38) |
L124P |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,883,371 (GRCm38) |
H142L |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,331,922 (GRCm38) |
H221Q |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,920,235 (GRCm38) |
S454P |
probably damaging |
Het |
| Mfsd4b1 |
C |
T |
10: 40,003,386 (GRCm38) |
V172M |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 112,346,801 (GRCm38) |
I763K |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 91,125,404 (GRCm38) |
I594M |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,990,441 (GRCm38) |
R77S |
possibly damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,922,867 (GRCm38) |
I265M |
probably benign |
Het |
| Olfr1350 |
A |
G |
7: 6,570,783 (GRCm38) |
Y264C |
probably damaging |
Het |
| Olfr669 |
T |
C |
7: 104,938,676 (GRCm38) |
L50P |
probably damaging |
Het |
| Olfr877 |
T |
A |
9: 37,855,646 (GRCm38) |
V276D |
possibly damaging |
Het |
| Pcdhgb5 |
C |
A |
18: 37,731,923 (GRCm38) |
P257Q |
probably benign |
Het |
| Phactr1 |
A |
G |
13: 43,132,981 (GRCm38) |
D586G |
probably damaging |
Het |
| Pkn3 |
T |
A |
2: 30,083,536 (GRCm38) |
|
probably null |
Het |
| Prob1 |
A |
T |
18: 35,654,500 (GRCm38) |
S234T |
probably benign |
Het |
| Rab14 |
A |
T |
2: 35,183,417 (GRCm38) |
L131* |
probably null |
Het |
| Rab5c |
G |
A |
11: 100,719,963 (GRCm38) |
R40C |
probably damaging |
Het |
| Rhebl1 |
A |
G |
15: 98,879,283 (GRCm38) |
L103P |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,257,090 (GRCm38) |
F146L |
probably damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,868,064 (GRCm38) |
T575I |
probably benign |
Het |
| Smo |
A |
G |
6: 29,760,230 (GRCm38) |
H776R |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,104,479 (GRCm38) |
M1V |
probably null |
Het |
| Ttn |
C |
A |
2: 76,894,692 (GRCm38) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,154 (GRCm38) |
M130L |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,028,297 (GRCm38) |
H248Y |
probably benign |
Het |
| Vit |
A |
T |
17: 78,625,156 (GRCm38) |
N564I |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,544,311 (GRCm38) |
Y263* |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,363,754 (GRCm38) |
Y609F |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,671,072 (GRCm38) |
I876V |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,408,017 (GRCm38) |
I655T |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 25,080,197 (GRCm38) |
C215S |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 54,987,997 (GRCm38) |
T173A |
probably benign |
Het |
| Zfp69 |
A |
T |
4: 120,931,401 (GRCm38) |
V239D |
possibly damaging |
Het |
|
| Other mutations in Rrbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Rrbp1
|
APN |
2 |
143,968,618 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01636:Rrbp1
|
APN |
2 |
143,947,895 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01923:Rrbp1
|
APN |
2 |
143,990,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02513:Rrbp1
|
APN |
2 |
143,988,430 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02548:Rrbp1
|
APN |
2 |
143,949,759 (GRCm38) |
splice site |
probably benign |
|
|
IGL02678:Rrbp1
|
APN |
2 |
143,990,187 (GRCm38) |
missense |
probably damaging |
0.98 |
|
FR4449:Rrbp1
|
UTSW |
2 |
143,967,456 (GRCm38) |
frame shift |
probably null |
|
|
PIT4378001:Rrbp1
|
UTSW |
2 |
143,974,540 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0127:Rrbp1
|
UTSW |
2 |
143,989,944 (GRCm38) |
missense |
probably benign |
0.21 |
|
R0611:Rrbp1
|
UTSW |
2 |
143,988,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0881:Rrbp1
|
UTSW |
2 |
143,953,253 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1439:Rrbp1
|
UTSW |
2 |
143,955,112 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1534:Rrbp1
|
UTSW |
2 |
143,988,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1604:Rrbp1
|
UTSW |
2 |
143,989,390 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1920:Rrbp1
|
UTSW |
2 |
143,988,291 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1921:Rrbp1
|
UTSW |
2 |
143,988,291 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2152:Rrbp1
|
UTSW |
2 |
143,954,198 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2153:Rrbp1
|
UTSW |
2 |
143,954,198 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2319:Rrbp1
|
UTSW |
2 |
143,957,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2850:Rrbp1
|
UTSW |
2 |
143,949,349 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2864:Rrbp1
|
UTSW |
2 |
143,957,637 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3433:Rrbp1
|
UTSW |
2 |
143,952,280 (GRCm38) |
splice site |
probably benign |
|
|
R3707:Rrbp1
|
UTSW |
2 |
143,953,277 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3837:Rrbp1
|
UTSW |
2 |
143,989,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4073:Rrbp1
|
UTSW |
2 |
143,963,110 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4074:Rrbp1
|
UTSW |
2 |
143,963,110 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4076:Rrbp1
|
UTSW |
2 |
143,963,110 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4279:Rrbp1
|
UTSW |
2 |
143,963,108 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4583:Rrbp1
|
UTSW |
2 |
143,988,751 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4820:Rrbp1
|
UTSW |
2 |
143,964,765 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R4829:Rrbp1
|
UTSW |
2 |
143,989,687 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4836:Rrbp1
|
UTSW |
2 |
143,988,417 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5589:Rrbp1
|
UTSW |
2 |
143,989,966 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5801:Rrbp1
|
UTSW |
2 |
143,989,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5806:Rrbp1
|
UTSW |
2 |
143,963,331 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5955:Rrbp1
|
UTSW |
2 |
143,949,677 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6102:Rrbp1
|
UTSW |
2 |
143,988,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Rrbp1
|
UTSW |
2 |
143,989,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6916:Rrbp1
|
UTSW |
2 |
143,974,598 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7022:Rrbp1
|
UTSW |
2 |
143,957,802 (GRCm38) |
splice site |
probably null |
|
|
R7136:Rrbp1
|
UTSW |
2 |
143,949,680 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7291:Rrbp1
|
UTSW |
2 |
143,969,462 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7361:Rrbp1
|
UTSW |
2 |
143,967,444 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7816:Rrbp1
|
UTSW |
2 |
143,988,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7877:Rrbp1
|
UTSW |
2 |
143,947,895 (GRCm38) |
unclassified |
probably benign |
|
|
R7968:Rrbp1
|
UTSW |
2 |
143,990,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8022:Rrbp1
|
UTSW |
2 |
143,956,792 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8306:Rrbp1
|
UTSW |
2 |
143,950,496 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8439:Rrbp1
|
UTSW |
2 |
143,955,133 (GRCm38) |
missense |
probably benign |
0.23 |
|
R8469:Rrbp1
|
UTSW |
2 |
143,989,741 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8485:Rrbp1
|
UTSW |
2 |
143,955,013 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8526:Rrbp1
|
UTSW |
2 |
143,974,483 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8534:Rrbp1
|
UTSW |
2 |
143,988,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8556:Rrbp1
|
UTSW |
2 |
143,989,125 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8735:Rrbp1
|
UTSW |
2 |
143,989,000 (GRCm38) |
nonsense |
probably null |
|
|
R9258:Rrbp1
|
UTSW |
2 |
144,011,241 (GRCm38) |
start gained |
probably benign |
|
|
R9326:Rrbp1
|
UTSW |
2 |
143,964,824 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9419:Rrbp1
|
UTSW |
2 |
143,969,516 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9585:Rrbp1
|
UTSW |
2 |
143,957,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9660:Rrbp1
|
UTSW |
2 |
143,989,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9694:Rrbp1
|
UTSW |
2 |
143,990,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Rrbp1
|
UTSW |
2 |
143,974,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Rrbp1
|
UTSW |
2 |
143,969,495 (GRCm38) |
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 |
Incidental Mutation