Incidental Mutation 'R8556:Rrbp1'
| ID |
660089 |
| 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 |
068519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R8556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143831045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 374
(V374D)
|
| 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: V374D
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: V374D
| 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: V374D
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: V374D
| 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: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
A |
T |
11: 69,904,376 (GRCm39) |
M148K |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,779,094 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,216,302 (GRCm39) |
I495T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,332,268 (GRCm39) |
I426K |
possibly damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,553,471 (GRCm39) |
V971M |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,944,252 (GRCm39) |
F1074S |
probably damaging |
Het |
| Crk |
A |
G |
11: 75,583,347 (GRCm39) |
K189R |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,895,268 (GRCm39) |
L1254P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,289 (GRCm39) |
T658A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,212,457 (GRCm39) |
D1228G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,113,198 (GRCm39) |
Y209C |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,660,586 (GRCm39) |
V283I |
possibly damaging |
Het |
| Elavl1 |
A |
G |
8: 4,345,388 (GRCm39) |
S202P |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,152,485 (GRCm39) |
|
probably null |
Het |
| Esp31 |
A |
T |
17: 38,951,942 (GRCm39) |
M1L |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,871,350 (GRCm39) |
V2754A |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,443,308 (GRCm39) |
|
probably null |
Het |
| Hoxb6 |
G |
T |
11: 96,191,543 (GRCm39) |
R155L |
probably damaging |
Het |
| Igkv6-17 |
T |
C |
6: 70,348,746 (GRCm39) |
V39A |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,375,787 (GRCm39) |
L1363F |
probably damaging |
Het |
| Lcor |
TCA |
T |
19: 41,546,863 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,382,136 (GRCm39) |
S476P |
probably damaging |
Het |
| Mdh1b |
A |
C |
1: 63,750,141 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,552,233 (GRCm39) |
I4687L |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,053,902 (GRCm39) |
M672V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,554,807 (GRCm39) |
F2614L |
probably benign |
Het |
| Or4p8 |
A |
T |
2: 88,727,382 (GRCm39) |
C186* |
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,782 (GRCm39) |
D471E |
probably benign |
Het |
| Pds5b |
G |
A |
5: 150,716,073 (GRCm39) |
M1077I |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,465,679 (GRCm39) |
L310Q |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,707,038 (GRCm39) |
E1416K |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,271,044 (GRCm39) |
L1228P |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,481 (GRCm39) |
D597G |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,146,149 (GRCm39) |
F777L |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,127,593 (GRCm39) |
|
probably null |
Het |
| Serpina1a |
T |
A |
12: 103,822,229 (GRCm39) |
K234N |
probably damaging |
Het |
| Snx20 |
T |
A |
8: 89,356,661 (GRCm39) |
M52L |
probably benign |
Het |
| Svs6 |
T |
C |
2: 164,159,485 (GRCm39) |
S83P |
possibly damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,527 (GRCm39) |
S29P |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,985 (GRCm39) |
N697S |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,952 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,178,291 (GRCm39) |
I453V |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,762,747 (GRCm39) |
F2407L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,745,849 (GRCm39) |
S158P |
probably damaging |
Het |
| Uaca |
A |
T |
9: 60,777,923 (GRCm39) |
K768M |
probably damaging |
Het |
| Wdr20rt |
G |
A |
12: 65,273,739 (GRCm39) |
V228I |
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,300,444 (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 |
|
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 |
|
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'- GCCTTGATTCTGGGCTCCT -3'
(R):5'- TCAGAACCAAGCTAAGAAGGGT -3'
Sequencing Primer
(F):5'- TTGGTTCTGGGGTCCTTCCC -3'
(R):5'- GGCCCAGAACCAAGGCAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation