Incidental Mutation 'R5806:Rrbp1'
| ID |
448483 |
| 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 |
043392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5806 (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 A
at 143805251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 1007
(E1007V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016072
AA Change: E1007V
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: E1007V
| 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 |
noncoding transcript
Transcript: ENSMUST00000132434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136068
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,388,731 (GRCm39) |
M216T |
probably benign |
Het |
| Abhd4 |
A |
G |
14: 54,499,147 (GRCm39) |
N36D |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,405,005 (GRCm39) |
|
probably null |
Het |
| Btd |
A |
G |
14: 31,389,469 (GRCm39) |
T397A |
probably benign |
Het |
| Ccbe1 |
T |
A |
18: 66,209,426 (GRCm39) |
K205* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,479,899 (GRCm39) |
K1081E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,445 (GRCm39) |
S1548P |
possibly damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,050 (GRCm39) |
Y376* |
probably null |
Het |
| Cpxm1 |
C |
A |
2: 130,239,393 (GRCm39) |
A12S |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,015,005 (GRCm39) |
T68A |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,504 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,811,150 (GRCm39) |
Q582R |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,262 (GRCm39) |
E208G |
probably damaging |
Het |
| Dnaaf4 |
T |
C |
9: 72,869,336 (GRCm39) |
L182P |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,903,420 (GRCm39) |
L393* |
probably null |
Het |
| Ern1 |
G |
C |
11: 106,289,531 (GRCm39) |
S924C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,098,596 (GRCm39) |
I1249T |
probably damaging |
Het |
| Fgfbp3 |
T |
G |
19: 36,895,949 (GRCm39) |
D223A |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,936,794 (GRCm39) |
L313P |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 130,906,657 (GRCm39) |
Y504H |
probably damaging |
Het |
| Gjb5 |
A |
G |
4: 127,249,718 (GRCm39) |
I142T |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,413 (GRCm39) |
D2352G |
probably benign |
Het |
| H2-M2 |
G |
A |
17: 37,792,617 (GRCm39) |
T218I |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,326,846 (GRCm39) |
T161A |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,928,424 (GRCm39) |
R806C |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,857,809 (GRCm39) |
I279F |
probably benign |
Het |
| Itln1 |
A |
T |
1: 171,358,720 (GRCm39) |
I149N |
possibly damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,437,234 (GRCm39) |
T556P |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,765,301 (GRCm39) |
E84D |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,858,937 (GRCm39) |
L305P |
probably damaging |
Het |
| Lzts2 |
T |
C |
19: 45,014,806 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,265,680 (GRCm39) |
L6843P |
probably damaging |
Het |
| Magi2 |
C |
A |
5: 20,856,202 (GRCm39) |
H841Q |
probably benign |
Het |
| Mdm1 |
A |
T |
10: 118,002,563 (GRCm39) |
H628L |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,783,119 (GRCm39) |
D734G |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,354,849 (GRCm39) |
W9R |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,306,334 (GRCm39) |
H576R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,572 (GRCm39) |
T3173A |
possibly damaging |
Het |
| Mx1 |
A |
T |
16: 97,255,351 (GRCm39) |
V234E |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,072,141 (GRCm39) |
L623P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,581,243 (GRCm39) |
M1I |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,158,117 (GRCm39) |
V337E |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,982,056 (GRCm39) |
T64M |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,373 (GRCm39) |
M275K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,495 (GRCm39) |
N194D |
probably damaging |
Het |
| Or6e1 |
A |
T |
14: 54,520,264 (GRCm39) |
F29L |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,369,656 (GRCm39) |
E245G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,178,548 (GRCm39) |
K524R |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,529,750 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
T |
A |
12: 32,254,952 (GRCm39) |
D345V |
possibly damaging |
Het |
| Plekhg4 |
A |
T |
8: 106,105,542 (GRCm39) |
Q669L |
possibly damaging |
Het |
| Prlr |
A |
T |
15: 10,319,290 (GRCm39) |
Y73F |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,841,523 (GRCm39) |
I129V |
possibly damaging |
Het |
| Ranbp3 |
A |
T |
17: 57,017,717 (GRCm39) |
T458S |
probably benign |
Het |
| Ren1 |
T |
A |
1: 133,283,249 (GRCm39) |
Y128* |
probably null |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rnf222 |
T |
C |
11: 68,783,789 (GRCm39) |
S119P |
possibly damaging |
Het |
| Septin11 |
G |
A |
5: 93,315,437 (GRCm39) |
E389K |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,899,697 (GRCm39) |
|
probably null |
Het |
| Slc25a54 |
T |
C |
3: 108,987,894 (GRCm39) |
S12P |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,028,561 (GRCm39) |
F336V |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,198,114 (GRCm39) |
T254A |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,671,208 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
T |
7: 127,158,335 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
T |
5: 137,296,179 (GRCm39) |
I509N |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,108,243 (GRCm39) |
H99Q |
probably benign |
Het |
| Tmem40 |
A |
G |
6: 115,713,373 (GRCm39) |
V76A |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,533,248 (GRCm39) |
S740T |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,667,746 (GRCm39) |
|
probably null |
Het |
| Tpd52l2 |
C |
A |
2: 181,144,680 (GRCm39) |
T109K |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,564,128 (GRCm39) |
D109E |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,170,921 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,685,442 (GRCm39) |
K423* |
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,576,739 (GRCm39) |
G1458D |
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 |
|
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'- TCACATGTGTAGGAGCTGGG -3'
(R):5'- CCAGTCCACAAGAAAAGTTCATGG -3'
Sequencing Primer
(F):5'- AGGAGCTGGGCATCGTG -3'
(R):5'- TGCATTTTTAGTGCAGCCCACAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation