Incidental Mutation 'R5589:Rrbp1'
| ID |
437331 |
| 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 |
043142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5589 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143831886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 94
(I94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
[ENSMUST00000037875]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016072
AA Change: I94V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: I94V
| 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: I94V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: I94V
| 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: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,468,066 (GRCm39) |
M76L |
probably benign |
Het |
| Adrm1b |
T |
A |
3: 92,336,112 (GRCm39) |
|
probably benign |
Het |
| Alg1 |
T |
A |
16: 5,053,086 (GRCm39) |
W116R |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,340 (GRCm39) |
S33T |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,400 (GRCm39) |
E556G |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,480,597 (GRCm39) |
I2761K |
possibly damaging |
Het |
| Ccdc68 |
G |
A |
18: 70,079,577 (GRCm39) |
G141E |
probably benign |
Het |
| Cckbr |
T |
C |
7: 105,083,732 (GRCm39) |
V220A |
probably damaging |
Het |
| Ccnd3 |
G |
A |
17: 47,909,544 (GRCm39) |
R45Q |
probably damaging |
Het |
| Cdh24 |
G |
T |
14: 54,874,832 (GRCm39) |
T391N |
probably damaging |
Het |
| Cldn11 |
A |
G |
3: 31,204,395 (GRCm39) |
T33A |
probably damaging |
Het |
| Clec2e |
T |
A |
6: 129,075,391 (GRCm39) |
Y50F |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,075,944 (GRCm39) |
N943D |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,484 (GRCm39) |
R177G |
possibly damaging |
Het |
| Dmgdh |
T |
C |
13: 93,813,665 (GRCm39) |
V70A |
probably damaging |
Het |
| Gm14496 |
C |
A |
2: 181,637,674 (GRCm39) |
Y249* |
probably null |
Het |
| Gmnc |
T |
A |
16: 26,781,714 (GRCm39) |
H105L |
probably damaging |
Het |
| Gpt2 |
A |
G |
8: 86,219,740 (GRCm39) |
Y62C |
probably damaging |
Het |
| Ift80 |
T |
C |
3: 68,838,233 (GRCm39) |
R413G |
probably damaging |
Het |
| Kctd16 |
C |
A |
18: 40,392,061 (GRCm39) |
D216E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,864 (GRCm39) |
V873A |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,039,117 (GRCm39) |
Q92K |
probably benign |
Het |
| L1td1 |
C |
A |
4: 98,626,341 (GRCm39) |
N845K |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,605,277 (GRCm39) |
T1077I |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,429,751 (GRCm39) |
I230T |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,399,819 (GRCm39) |
N160S |
probably damaging |
Het |
| Lyzl4 |
G |
A |
9: 121,413,469 (GRCm39) |
R24C |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,794,488 (GRCm39) |
N658S |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,566,275 (GRCm39) |
I377T |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,238,243 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,548,414 (GRCm39) |
T58A |
possibly damaging |
Het |
| Myo9a |
C |
T |
9: 59,802,527 (GRCm39) |
Q2005* |
probably null |
Het |
| Neu3 |
G |
T |
7: 99,472,636 (GRCm39) |
P34T |
probably benign |
Het |
| Nlrp4b |
G |
A |
7: 10,449,512 (GRCm39) |
V205I |
probably benign |
Het |
| Or4b1b |
C |
T |
2: 90,112,313 (GRCm39) |
G202D |
probably damaging |
Het |
| Or4k38 |
T |
C |
2: 111,165,850 (GRCm39) |
N191S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,334 (GRCm39) |
S171T |
probably benign |
Het |
| Or5t15 |
A |
G |
2: 86,681,118 (GRCm39) |
I308T |
unknown |
Het |
| Or6c66 |
T |
G |
10: 129,461,319 (GRCm39) |
T204P |
probably damaging |
Het |
| Or9m1 |
T |
C |
2: 87,733,691 (GRCm39) |
T110A |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,578,933 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
G |
7: 116,016,893 (GRCm39) |
V288A |
probably benign |
Het |
| Plcd3 |
T |
C |
11: 102,968,629 (GRCm39) |
D354G |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,524,655 (GRCm39) |
N1219K |
probably benign |
Het |
| Prl3d1 |
T |
A |
13: 27,278,927 (GRCm39) |
Y41N |
probably damaging |
Het |
| Qrich2 |
C |
T |
11: 116,332,234 (GRCm39) |
G2321R |
probably damaging |
Het |
| Serinc1 |
C |
A |
10: 57,399,262 (GRCm39) |
V214L |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,967,728 (GRCm39) |
N222K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,747,956 (GRCm39) |
Y429H |
probably damaging |
Het |
| Smyd1 |
C |
T |
6: 71,239,164 (GRCm39) |
V9M |
probably damaging |
Het |
| Sostdc1 |
C |
T |
12: 36,367,246 (GRCm39) |
Q141* |
probably null |
Het |
| Spam1 |
C |
T |
6: 24,796,109 (GRCm39) |
T20I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,354,834 (GRCm39) |
V5A |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,912,582 (GRCm39) |
|
probably null |
Het |
| Trim45 |
C |
T |
3: 100,837,257 (GRCm39) |
P531L |
probably damaging |
Het |
| Tshb |
A |
T |
3: 102,685,478 (GRCm39) |
Y50* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,320 (GRCm39) |
I19230V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba6 |
G |
A |
5: 86,270,288 (GRCm39) |
T832I |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,960,579 (GRCm39) |
V497D |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,892,007 (GRCm39) |
V62A |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,189 (GRCm39) |
L76F |
probably damaging |
Het |
| Vmn1r215 |
G |
T |
13: 23,260,190 (GRCm39) |
G77C |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,722,594 (GRCm39) |
D828G |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,633,990 (GRCm39) |
C573S |
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 |
|
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'- GCAGACTTTGAAGCAAGAACC -3'
(R):5'- AGACGTCGTATGAAGAAGCCC -3'
Sequencing Primer
(F):5'- ATAGAACTGACTGCTGGCTC -3'
(R):5'- TCGTATGAAGAAGCCCTTGCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation