Incidental Mutation 'R1604:Rrbp1'
ID |
176308 |
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 |
039641-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R1604 (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 143831310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 286
(N286D)
|
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: N286D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000016072 Gene: ENSMUSG00000027422 AA Change: N286D
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 |
possibly damaging
Transcript: ENSMUST00000037875
AA Change: N286D
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040560 Gene: ENSMUSG00000027422 AA Change: N286D
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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart2 |
A |
G |
12: 55,612,405 (GRCm39) |
D110G |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,133,785 (GRCm39) |
M369T |
possibly damaging |
Het |
Anks3 |
C |
T |
16: 4,766,117 (GRCm39) |
V151M |
probably damaging |
Het |
Arl6ip6 |
T |
C |
2: 53,082,508 (GRCm39) |
L125P |
probably damaging |
Het |
Bmp1 |
T |
C |
14: 70,745,444 (GRCm39) |
Q247R |
possibly damaging |
Het |
Ccdc30 |
A |
G |
4: 119,188,793 (GRCm39) |
I491T |
probably damaging |
Het |
Cdhr1 |
T |
A |
14: 36,817,050 (GRCm39) |
I104F |
probably benign |
Het |
Cdk17 |
G |
T |
10: 93,068,360 (GRCm39) |
M372I |
probably damaging |
Het |
Cyp2c54 |
A |
G |
19: 40,058,787 (GRCm39) |
V215A |
probably benign |
Het |
D430041D05Rik |
T |
A |
2: 104,035,487 (GRCm39) |
I1614F |
probably damaging |
Het |
Ddx55 |
A |
G |
5: 124,697,369 (GRCm39) |
N244D |
probably damaging |
Het |
Dop1b |
G |
T |
16: 93,559,458 (GRCm39) |
V617F |
probably benign |
Het |
Erbb4 |
G |
T |
1: 68,385,728 (GRCm39) |
A287E |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,513,852 (GRCm39) |
|
probably null |
Het |
Gm17421 |
G |
A |
12: 113,333,155 (GRCm39) |
|
noncoding transcript |
Het |
Gm9894 |
T |
A |
13: 67,913,008 (GRCm39) |
|
noncoding transcript |
Het |
Gnpat |
T |
C |
8: 125,603,700 (GRCm39) |
S193P |
probably damaging |
Het |
Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
Hdgf |
T |
A |
3: 87,821,347 (GRCm39) |
|
probably null |
Het |
Itgb8 |
A |
T |
12: 119,166,265 (GRCm39) |
L89M |
probably damaging |
Het |
Lnx2 |
T |
C |
5: 146,966,135 (GRCm39) |
D328G |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,049,305 (GRCm39) |
T341A |
possibly damaging |
Het |
Map1b |
A |
G |
13: 99,566,080 (GRCm39) |
S2214P |
unknown |
Het |
Mms22l |
T |
C |
4: 24,502,804 (GRCm39) |
F131L |
probably damaging |
Het |
Msmo1 |
A |
G |
8: 65,180,689 (GRCm39) |
I75T |
probably damaging |
Het |
Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
Or2a56 |
G |
A |
6: 42,932,650 (GRCm39) |
A73T |
possibly damaging |
Het |
Or51k1 |
G |
T |
7: 103,661,162 (GRCm39) |
A249E |
probably damaging |
Het |
Or8c13 |
A |
G |
9: 38,091,645 (GRCm39) |
V158A |
probably benign |
Het |
Or8d2 |
T |
G |
9: 38,760,000 (GRCm39) |
F197V |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,330,763 (GRCm39) |
R113* |
probably null |
Het |
Polr2m |
T |
C |
9: 71,390,959 (GRCm39) |
D81G |
probably damaging |
Het |
Ppp1r15b |
T |
A |
1: 133,060,287 (GRCm39) |
M268K |
probably benign |
Het |
Ptprcap |
T |
A |
19: 4,206,073 (GRCm39) |
L52* |
probably null |
Het |
Rasgrp2 |
C |
T |
19: 6,457,087 (GRCm39) |
T277I |
possibly damaging |
Het |
Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
Scrib |
A |
C |
15: 75,920,089 (GRCm39) |
S1557A |
probably damaging |
Het |
Sergef |
C |
A |
7: 46,092,783 (GRCm39) |
V409L |
probably benign |
Het |
Shisal1 |
T |
C |
15: 84,290,672 (GRCm39) |
M212V |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,309,328 (GRCm39) |
M280V |
probably benign |
Het |
Slc9a8 |
C |
T |
2: 167,313,352 (GRCm39) |
P409S |
probably benign |
Het |
Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
Spc25 |
T |
C |
2: 69,035,498 (GRCm39) |
D4G |
probably damaging |
Het |
Specc1 |
C |
T |
11: 61,933,883 (GRCm39) |
R88C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,724,948 (GRCm39) |
|
probably null |
Het |
Stt3b |
T |
C |
9: 115,079,995 (GRCm39) |
E639G |
probably damaging |
Het |
Sult3a1 |
A |
C |
10: 33,742,616 (GRCm39) |
E81A |
probably damaging |
Het |
Taf1b |
G |
A |
12: 24,606,623 (GRCm39) |
G481D |
probably benign |
Het |
Tgm4 |
T |
C |
9: 122,874,129 (GRCm39) |
V123A |
probably benign |
Het |
Tie1 |
G |
T |
4: 118,331,604 (GRCm39) |
H973N |
probably damaging |
Het |
Tmem117 |
C |
T |
15: 94,992,425 (GRCm39) |
R362W |
probably damaging |
Het |
Txnip |
A |
T |
3: 96,466,277 (GRCm39) |
Q107L |
probably benign |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,780 (GRCm39) |
V1628A |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,564,245 (GRCm39) |
M139K |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,659,709 (GRCm39) |
V193A |
probably benign |
Het |
Zcchc8 |
C |
T |
5: 123,838,721 (GRCm39) |
A606T |
probably benign |
Het |
Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
Zfp518b |
T |
C |
5: 38,830,949 (GRCm39) |
D352G |
probably damaging |
Het |
Zfp784 |
A |
G |
7: 5,039,453 (GRCm39) |
|
probably benign |
Het |
Zfp940 |
A |
T |
7: 29,545,500 (GRCm39) |
F136I |
probably benign |
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 |
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 |
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'- AGCTTGGTTCTGGGCTCCCT -3'
(R):5'- TCTGCCATCTTGGAAGCCACAC -3'
Sequencing Primer
(F):5'- TGGCCTGGTTTTGGCCC -3'
(R):5'- GGCTCTAAGGCCAGTTCTC -3'
|
Posted On |
2014-04-24 |