Incidental Mutation 'R4836:Rrbp1'
| ID |
373221 |
| 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 |
042451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R4836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
143789315-143853183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143830337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 610
(T610I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040560
(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: T610I
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: T610I
| 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: T610I
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: T610I
| 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 |
|
| Meta Mutation Damage Score |
0.0848 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (87/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,066,152 (GRCm39) |
S453T |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,740,550 (GRCm39) |
V368D |
probably damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,745,134 (GRCm39) |
Y448F |
probably damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,840,751 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,613,073 (GRCm39) |
N1166S |
probably benign |
Het |
| Atl3 |
C |
T |
19: 7,486,910 (GRCm39) |
R77* |
probably null |
Het |
| Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
| Ccnt1 |
C |
A |
15: 98,465,444 (GRCm39) |
R25L |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,952,898 (GRCm39) |
T525A |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,579 (GRCm39) |
I835V |
probably damaging |
Het |
| Cimap2 |
T |
A |
4: 106,467,724 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
G |
T |
6: 42,286,898 (GRCm39) |
V652L |
probably damaging |
Het |
| Cntln |
T |
A |
4: 84,967,957 (GRCm39) |
Y725* |
probably null |
Het |
| Cog5 |
T |
C |
12: 31,969,732 (GRCm39) |
F21L |
probably benign |
Het |
| D6Ertd527e |
GGCAGCAGCAGCA |
GGCAGCAGCAGCAGCA |
6: 87,088,406 (GRCm39) |
|
probably benign |
Het |
| Dnm2 |
A |
T |
9: 21,402,626 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,819,854 (GRCm39) |
V1430I |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,927,106 (GRCm39) |
D285G |
probably damaging |
Het |
| Eef2kmt |
C |
T |
16: 5,066,867 (GRCm39) |
V129M |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,403,920 (GRCm39) |
M726K |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,289,019 (GRCm39) |
L168P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,390,026 (GRCm39) |
F1759Y |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,498,153 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gm1965 |
T |
C |
6: 89,122,392 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,864,958 (GRCm39) |
|
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,843 (GRCm39) |
L46* |
probably null |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Isl1 |
A |
G |
13: 116,439,619 (GRCm39) |
M243T |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,366,498 (GRCm39) |
I142F |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,012,263 (GRCm39) |
T1069A |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,069,225 (GRCm39) |
V1848A |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,389,363 (GRCm39) |
V930A |
probably damaging |
Het |
| Kdm5b |
C |
A |
1: 134,521,053 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,713 (GRCm39) |
F171L |
possibly damaging |
Het |
| Map1b |
A |
G |
13: 99,567,562 (GRCm39) |
S1720P |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,257,017 (GRCm39) |
Q185L |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,644,027 (GRCm39) |
D238E |
possibly damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,904,472 (GRCm39) |
I784F |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,933,752 (GRCm39) |
P101S |
probably damaging |
Het |
| Myh3 |
G |
T |
11: 66,987,765 (GRCm39) |
A1413S |
probably benign |
Het |
| Naa80 |
A |
T |
9: 107,460,738 (GRCm39) |
Y211F |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or12j4 |
A |
G |
7: 140,046,989 (GRCm39) |
R292G |
probably damaging |
Het |
| Or2t48 |
A |
C |
11: 58,420,308 (GRCm39) |
M168R |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,544 (GRCm39) |
I43T |
probably damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,793 (GRCm39) |
I15V |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,163,571 (GRCm39) |
M43K |
probably benign |
Het |
| Or8k23 |
G |
A |
2: 86,186,094 (GRCm39) |
L211F |
probably benign |
Het |
| Palld |
T |
A |
8: 62,140,415 (GRCm39) |
T531S |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,823,195 (GRCm39) |
E105G |
probably benign |
Het |
| Phf11a |
A |
T |
14: 59,525,028 (GRCm39) |
S59T |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,541,480 (GRCm39) |
I1252N |
probably damaging |
Het |
| Ramp3 |
A |
G |
11: 6,624,761 (GRCm39) |
|
probably null |
Het |
| Scart2 |
T |
C |
7: 139,879,021 (GRCm39) |
I1051T |
probably benign |
Het |
| Semp2l2a |
C |
T |
8: 13,888,007 (GRCm39) |
S28N |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,531 (GRCm39) |
Y555C |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,866,677 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
T |
A |
12: 81,226,322 (GRCm39) |
D371E |
probably damaging |
Het |
| Stmn1 |
T |
A |
4: 134,197,495 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
C |
T |
1: 12,912,910 (GRCm39) |
L715F |
probably benign |
Het |
| Surf1 |
T |
C |
2: 26,804,255 (GRCm39) |
T180A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,455 (GRCm39) |
R632W |
unknown |
Het |
| Tchh |
A |
T |
3: 93,354,895 (GRCm39) |
D1445V |
unknown |
Het |
| Tctn1 |
A |
T |
5: 122,383,568 (GRCm39) |
M505K |
probably benign |
Het |
| Tdrkh |
T |
A |
3: 94,332,897 (GRCm39) |
I150N |
probably damaging |
Het |
| Tespa1 |
C |
T |
10: 130,198,028 (GRCm39) |
T350I |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,499 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Tmem208 |
C |
T |
8: 106,055,296 (GRCm39) |
S119F |
probably damaging |
Het |
| Tmprss6 |
G |
C |
15: 78,329,588 (GRCm39) |
A91G |
probably damaging |
Het |
| Trp53bp2 |
C |
T |
1: 182,259,147 (GRCm39) |
R67W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,541 (GRCm39) |
I25488T |
possibly damaging |
Het |
| Txnl4a |
A |
G |
18: 80,265,468 (GRCm39) |
E111G |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,237,137 (GRCm39) |
I3402M |
probably damaging |
Het |
| Vmn1r188 |
A |
C |
13: 22,272,291 (GRCm39) |
I82L |
probably benign |
Het |
| Zfp65 |
A |
G |
13: 67,856,994 (GRCm39) |
V95A |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
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 |
|
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'- TCTGGACCATGCTTGCCTTT -3'
(R):5'- AAGGAGCCCAGAATCAAGGC -3'
Sequencing Primer
(F):5'- CCTTTTGACCCTGGGCAG -3'
(R):5'- GGGGCCCAAAACCAAGGC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation