Incidental Mutation 'R7129:Bms1'
| ID |
552518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bms1
|
| Ensembl Gene |
ENSMUSG00000030138 |
| Gene Name |
BMS1, ribosome biogenesis factor |
| Synonyms |
Bms1l |
| MMRRC Submission |
045214-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 118380122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 728
(C728*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
| AlphaFold |
Q6PGF5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032237
AA Change: C728*
|
| SMART Domains |
Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: C728*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f5na2
|
78 |
187 |
2e-5 |
SMART |
|
low complexity region
|
190 |
205 |
N/A |
INTRINSIC |
|
AARP2CN
|
231 |
317 |
2.15e-42 |
SMART |
|
low complexity region
|
436 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
Blast:AAA
|
663 |
740 |
9e-20 |
BLAST |
|
DUF663
|
816 |
1108 |
6.7e-173 |
SMART |
|
coiled coil region
|
1223 |
1257 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,199 (GRCm39) |
E443G |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,263,004 (GRCm39) |
|
probably null |
Het |
| 3110082I17Rik |
A |
G |
5: 139,349,738 (GRCm39) |
Y104H |
probably damaging |
Het |
| Abcg4 |
T |
C |
9: 44,190,681 (GRCm39) |
K282E |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,770,758 (GRCm39) |
S956P |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,986,235 (GRCm39) |
V74A |
probably damaging |
Het |
| Akt1 |
A |
T |
12: 112,626,083 (GRCm39) |
M63K |
probably benign |
Het |
| Arfrp1 |
G |
A |
2: 181,001,344 (GRCm39) |
R177* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,346 (GRCm39) |
E52G |
possibly damaging |
Het |
| BC051019 |
T |
C |
7: 109,319,825 (GRCm39) |
S10G |
|
Het |
| Bfsp2 |
T |
A |
9: 103,357,118 (GRCm39) |
E103V |
probably damaging |
Het |
| Cachd1 |
T |
G |
4: 100,775,263 (GRCm39) |
N159K |
probably null |
Het |
| Cd38 |
A |
G |
5: 44,067,651 (GRCm39) |
N294S |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,852,433 (GRCm39) |
N891S |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,370 (GRCm39) |
H836L |
probably damaging |
Het |
| Cldn16 |
A |
T |
16: 26,301,388 (GRCm39) |
D232V |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,689 (GRCm39) |
I425N |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,878,878 (GRCm39) |
N1506D |
probably damaging |
Het |
| Dok7 |
T |
C |
5: 35,236,392 (GRCm39) |
S227P |
probably damaging |
Het |
| Elf2 |
T |
C |
3: 51,168,432 (GRCm39) |
R201G |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,787,944 (GRCm39) |
H329R |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,890,339 (GRCm39) |
R841G |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,948,934 (GRCm39) |
Y926H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,143 (GRCm39) |
H3849R |
probably benign |
Het |
| Hapln3 |
C |
T |
7: 78,771,572 (GRCm39) |
G106R |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,452,961 (GRCm39) |
|
probably null |
Het |
| Ifitm7 |
A |
T |
16: 13,801,600 (GRCm39) |
I53N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,778,554 (GRCm39) |
N433D |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,329,191 (GRCm39) |
V1048I |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,588 (GRCm39) |
T862A |
probably benign |
Het |
| Mcrs1 |
G |
A |
15: 99,146,609 (GRCm39) |
L141F |
probably damaging |
Het |
| Nkx3-2 |
A |
G |
5: 41,919,017 (GRCm39) |
S324P |
probably damaging |
Het |
| Nmi |
A |
T |
2: 51,845,936 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,325 (GRCm39) |
K480E |
possibly damaging |
Het |
| Oit3 |
T |
A |
10: 59,264,166 (GRCm39) |
I323F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,690 (GRCm39) |
K173E |
probably benign |
Het |
| Or5b98 |
A |
T |
19: 12,931,478 (GRCm39) |
H175L |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,291 (GRCm39) |
E640G |
probably benign |
Het |
| Phip |
C |
T |
9: 82,759,353 (GRCm39) |
V1366I |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,174 (GRCm39) |
M162V |
probably null |
Het |
| Podxl2 |
A |
G |
6: 88,820,487 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,554,069 (GRCm39) |
D40V |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,530,537 (GRCm39) |
F603L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,976 (GRCm39) |
K701* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,582,446 (GRCm39) |
D223G |
|
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,350 (GRCm39) |
T163S |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,259,287 (GRCm39) |
D1532G |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,782,441 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,646,515 (GRCm39) |
G12844W |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,053,775 (GRCm39) |
I190V |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,219,412 (GRCm39) |
I536T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,611 (GRCm39) |
T229P |
probably damaging |
Het |
| Zbtb21 |
AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
16: 97,752,887 (GRCm39) |
|
probably benign |
Het |
| Zbtb8a |
G |
C |
4: 129,254,188 (GRCm39) |
A102G |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,681,971 (GRCm39) |
W57R |
probably damaging |
Het |
|
| Other mutations in Bms1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Bms1
|
APN |
6 |
118,381,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00763:Bms1
|
APN |
6 |
118,395,363 (GRCm39) |
splice site |
probably benign |
|
|
IGL00839:Bms1
|
APN |
6 |
118,382,252 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02005:Bms1
|
APN |
6 |
118,381,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Bms1
|
APN |
6 |
118,366,290 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02403:Bms1
|
APN |
6 |
118,382,185 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02474:Bms1
|
APN |
6 |
118,393,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03230:Bms1
|
APN |
6 |
118,395,522 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03277:Bms1
|
APN |
6 |
118,382,083 (GRCm39) |
missense |
probably benign |
|
|
PIT4508001:Bms1
|
UTSW |
6 |
118,360,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0028:Bms1
|
UTSW |
6 |
118,393,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Bms1
|
UTSW |
6 |
118,382,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Bms1
|
UTSW |
6 |
118,382,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Bms1
|
UTSW |
6 |
118,385,095 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0295:Bms1
|
UTSW |
6 |
118,366,298 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0360:Bms1
|
UTSW |
6 |
118,382,251 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0556:Bms1
|
UTSW |
6 |
118,390,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Bms1
|
UTSW |
6 |
118,382,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1583:Bms1
|
UTSW |
6 |
118,366,350 (GRCm39) |
splice site |
probably benign |
|
|
R1815:Bms1
|
UTSW |
6 |
118,360,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Bms1
|
UTSW |
6 |
118,369,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2045:Bms1
|
UTSW |
6 |
118,369,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Bms1
|
UTSW |
6 |
118,368,114 (GRCm39) |
splice site |
probably null |
|
|
R4293:Bms1
|
UTSW |
6 |
118,382,308 (GRCm39) |
splice site |
probably null |
|
|
R4296:Bms1
|
UTSW |
6 |
118,381,960 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4467:Bms1
|
UTSW |
6 |
118,360,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4688:Bms1
|
UTSW |
6 |
118,369,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Bms1
|
UTSW |
6 |
118,380,196 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5015:Bms1
|
UTSW |
6 |
118,381,224 (GRCm39) |
nonsense |
probably null |
|
|
R5327:Bms1
|
UTSW |
6 |
118,382,179 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5489:Bms1
|
UTSW |
6 |
118,390,706 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5511:Bms1
|
UTSW |
6 |
118,365,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5636:Bms1
|
UTSW |
6 |
118,365,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5815:Bms1
|
UTSW |
6 |
118,381,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Bms1
|
UTSW |
6 |
118,373,797 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6299:Bms1
|
UTSW |
6 |
118,395,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6389:Bms1
|
UTSW |
6 |
118,380,196 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6838:Bms1
|
UTSW |
6 |
118,393,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7414:Bms1
|
UTSW |
6 |
118,360,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7811:Bms1
|
UTSW |
6 |
118,380,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7883:Bms1
|
UTSW |
6 |
118,365,735 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8046:Bms1
|
UTSW |
6 |
118,385,105 (GRCm39) |
missense |
probably benign |
|
|
R8068:Bms1
|
UTSW |
6 |
118,390,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Bms1
|
UTSW |
6 |
118,361,219 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8176:Bms1
|
UTSW |
6 |
118,395,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Bms1
|
UTSW |
6 |
118,365,721 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8728:Bms1
|
UTSW |
6 |
118,369,331 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8793:Bms1
|
UTSW |
6 |
118,360,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Bms1
|
UTSW |
6 |
118,369,292 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9234:Bms1
|
UTSW |
6 |
118,375,044 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9440:Bms1
|
UTSW |
6 |
118,382,217 (GRCm39) |
missense |
probably benign |
|
|
R9701:Bms1
|
UTSW |
6 |
118,368,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9802:Bms1
|
UTSW |
6 |
118,368,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:Bms1
|
UTSW |
6 |
118,381,795 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCATTTGACCCTGTGTG -3'
(R):5'- CATGTCTATAAGGACCAGAGACCC -3'
Sequencing Primer
(F):5'- CCCTGTGTGTGGGGAGG -3'
(R):5'- CACAGTCCCTTGAATTCTAGGAAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation