Incidental Mutation 'R8068:Bms1'
| ID |
620104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bms1
|
| Ensembl Gene |
ENSMUSG00000030138 |
| Gene Name |
BMS1, ribosome biogenesis factor |
| Synonyms |
Bms1l |
| MMRRC Submission |
067503-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118390711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 206
(F206S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
| AlphaFold |
Q6PGF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032237
AA Change: F206S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: F206S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,975 (GRCm39) |
D455E |
not run |
Het |
| Aldoc |
T |
C |
11: 78,215,553 (GRCm39) |
F79S |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,389 (GRCm39) |
S350G |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,259,711 (GRCm39) |
I698L |
probably benign |
Het |
| Cd47 |
T |
A |
16: 49,715,779 (GRCm39) |
S182T |
|
Het |
| Ces2e |
G |
T |
8: 105,659,629 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,394,229 (GRCm39) |
S373G |
not run |
Het |
| Cit |
C |
A |
5: 116,090,525 (GRCm39) |
H906Q |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,120,294 (GRCm39) |
S1370P |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,207,745 (GRCm39) |
F1739L |
probably benign |
Het |
| Dlx4 |
T |
C |
11: 95,036,156 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,883,276 (GRCm39) |
Y796* |
probably null |
Het |
| Elf1 |
T |
A |
14: 79,773,830 (GRCm39) |
F14I |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,404,827 (GRCm39) |
Q73R |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gls2 |
C |
G |
10: 128,030,983 (GRCm39) |
R81G |
unknown |
Het |
| Hnrnpll |
T |
C |
17: 80,358,281 (GRCm39) |
M157V |
possibly damaging |
Het |
| Itgb3 |
T |
A |
11: 104,556,337 (GRCm39) |
M726K |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,101,726 (GRCm39) |
M119R |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,924,250 (GRCm39) |
T155A |
probably benign |
Het |
| Kctd9 |
T |
A |
14: 67,962,111 (GRCm39) |
D51E |
unknown |
Het |
| Lgr6 |
T |
C |
1: 134,991,402 (GRCm39) |
I129V |
probably benign |
Het |
| Lrrfip1 |
A |
T |
1: 91,055,824 (GRCm39) |
D598V |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,023,593 (GRCm39) |
Q850K |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,709 (GRCm39) |
R115G |
possibly damaging |
Het |
| Mns1 |
A |
C |
9: 72,355,809 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,093,288 (GRCm39) |
R14Q |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,298,422 (GRCm39) |
S25T |
|
Het |
| Ncapd3 |
T |
C |
9: 26,974,657 (GRCm39) |
S710P |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,089,841 (GRCm39) |
H572L |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Opa3 |
A |
G |
7: 18,978,910 (GRCm39) |
E125G |
probably damaging |
Het |
| Or52p1 |
T |
A |
7: 104,267,460 (GRCm39) |
C191* |
probably null |
Het |
| Or5ap2 |
A |
G |
2: 85,680,150 (GRCm39) |
E118G |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,698,995 (GRCm39) |
Y220C |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,094,059 (GRCm39) |
Y238C |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,555 (GRCm39) |
D652G |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,618 (GRCm39) |
N82K |
probably damaging |
Het |
| Pde4b |
T |
C |
4: 102,453,212 (GRCm39) |
I293T |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Qki |
T |
C |
17: 10,537,732 (GRCm39) |
D24G |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,250,438 (GRCm39) |
K197E |
possibly damaging |
Het |
| Rnf111 |
A |
T |
9: 70,365,223 (GRCm39) |
S415T |
probably benign |
Het |
| Scyl1 |
A |
G |
19: 5,810,853 (GRCm39) |
V488A |
probably damaging |
Het |
| Slc1a6 |
G |
C |
10: 78,648,706 (GRCm39) |
V476L |
possibly damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,365 (GRCm39) |
F84I |
probably benign |
Het |
| Slc22a4 |
A |
C |
11: 53,888,269 (GRCm39) |
I253S |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,657,412 (GRCm39) |
H77R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,398,894 (GRCm39) |
S2114P |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 122,911,041 (GRCm39) |
R201S |
possibly damaging |
Het |
| Ttpa |
C |
A |
4: 20,028,419 (GRCm39) |
H225Q |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,261 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,507 (GRCm39) |
V271D |
probably benign |
Het |
| Zfp53 |
A |
T |
17: 21,729,274 (GRCm39) |
T436S |
probably benign |
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 |
|
R7129:Bms1
|
UTSW |
6 |
118,380,122 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- CATGACCAACAGAGTGCACTG -3'
(R):5'- GGTGCTAATGCTTATAGATGCCAG -3'
Sequencing Primer
(F):5'- ACAGAGTGCACTGTCTCATG -3'
(R):5'- CTAATGCTTATAGATGCCAGCTTTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation