Incidental Mutation 'R6102:Rrbp1'
| ID |
485290 |
| 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 |
044252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6102 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143830313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 618
(Q618L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000037875]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016072
AA Change: Q618L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: Q618L
| 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: Q618L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: Q618L
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
A |
G |
11: 70,210,849 (GRCm39) |
I290T |
possibly damaging |
Het |
| Apeh |
T |
A |
9: 107,963,638 (GRCm39) |
D559V |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,405,197 (GRCm39) |
Y1361* |
probably null |
Het |
| Atad5 |
G |
T |
11: 80,002,398 (GRCm39) |
|
probably null |
Het |
| Ccr4 |
C |
T |
9: 114,325,561 (GRCm39) |
|
probably null |
Het |
| Clasrp |
G |
A |
7: 19,320,393 (GRCm39) |
|
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,292,705 (GRCm39) |
M261T |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,739 (GRCm39) |
M1450V |
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,773,197 (GRCm39) |
E202V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,598,299 (GRCm39) |
V1412E |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,881,342 (GRCm39) |
S2578P |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,180,165 (GRCm39) |
Y196F |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,685,626 (GRCm39) |
S113P |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Frs3 |
C |
T |
17: 48,013,596 (GRCm39) |
H173Y |
probably damaging |
Het |
| Ginm1 |
G |
T |
10: 7,644,260 (GRCm39) |
T323K |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,733,227 (GRCm39) |
S825P |
probably damaging |
Het |
| Hs3st3b1 |
A |
T |
11: 63,812,681 (GRCm39) |
C11* |
probably null |
Het |
| Ighv3-3 |
G |
C |
12: 114,160,080 (GRCm39) |
A110G |
possibly damaging |
Het |
| Igkv6-20 |
G |
A |
6: 70,312,853 (GRCm39) |
H107Y |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,403 (GRCm39) |
E355G |
probably benign |
Het |
| Lig4 |
C |
T |
8: 10,022,872 (GRCm39) |
G303S |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,562,381 (GRCm39) |
V2443G |
unknown |
Het |
| Map3k6 |
T |
C |
4: 132,974,442 (GRCm39) |
|
probably null |
Het |
| Mmp13 |
A |
G |
9: 7,276,688 (GRCm39) |
Q261R |
probably benign |
Het |
| Mphosph9 |
T |
A |
5: 124,435,772 (GRCm39) |
I554F |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,897 (GRCm39) |
F10I |
possibly damaging |
Het |
| Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,437,673 (GRCm39) |
N927S |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,989,211 (GRCm39) |
Q188L |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,427 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
T |
C |
2: 87,613,192 (GRCm39) |
F103L |
probably damaging |
Het |
| Or5p70 |
T |
C |
7: 107,994,491 (GRCm39) |
S55P |
probably damaging |
Het |
| Or7g34 |
T |
C |
9: 19,478,318 (GRCm39) |
M121V |
possibly damaging |
Het |
| Paip2b |
A |
C |
6: 83,785,828 (GRCm39) |
V134G |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,108,984 (GRCm39) |
T225A |
probably damaging |
Het |
| Pbx1 |
C |
A |
1: 168,011,134 (GRCm39) |
A298S |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,279,335 (GRCm39) |
K772* |
probably null |
Het |
| Pcsk4 |
A |
T |
10: 80,161,651 (GRCm39) |
Y163* |
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,971,470 (GRCm39) |
V58A |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,946,867 (GRCm39) |
T57S |
possibly damaging |
Het |
| Plscr2 |
C |
T |
9: 92,169,721 (GRCm39) |
T57I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,768 (GRCm39) |
S32P |
probably benign |
Het |
| Ppp3r2 |
C |
T |
4: 49,682,022 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,815,567 (GRCm39) |
L1693H |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Serpina3b |
A |
T |
12: 104,100,428 (GRCm39) |
T337S |
probably benign |
Het |
| Slc18a2 |
T |
C |
19: 59,282,310 (GRCm39) |
Y506H |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,818,482 (GRCm39) |
Y292C |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,052,086 (GRCm39) |
V1840A |
probably benign |
Het |
| Ssb |
T |
C |
2: 69,701,552 (GRCm39) |
*416Q |
probably null |
Het |
| Strada |
A |
G |
11: 106,059,262 (GRCm39) |
V209A |
probably benign |
Het |
| Tbc1d31 |
A |
T |
15: 57,799,489 (GRCm39) |
D225V |
probably damaging |
Het |
| Tgm4 |
T |
C |
9: 122,885,600 (GRCm39) |
F381L |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,253,207 (GRCm39) |
Y203N |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,812,868 (GRCm39) |
V109A |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,747,671 (GRCm39) |
L201M |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,804,694 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
T |
C |
13: 34,259,326 (GRCm39) |
I155V |
probably benign |
Het |
| Vmn1r5 |
A |
G |
6: 56,963,099 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r19 |
A |
T |
6: 123,306,907 (GRCm39) |
I472F |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,375,361 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
A |
G |
13: 67,970,466 (GRCm39) |
Y5C |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp825 |
A |
G |
13: 74,628,772 (GRCm39) |
L248P |
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 |
|
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'- TCTGGACCATGCTTGCCTTT -3'
(R):5'- GGAGCCCAGAATCAAGGCAA -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation