Incidental Mutation 'IGL02403:Bms1'
| ID |
291945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bms1
|
| Ensembl Gene |
ENSMUSG00000030138 |
| Gene Name |
BMS1, ribosome biogenesis factor |
| Synonyms |
Bms1l |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118382185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 451
(E451G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
| AlphaFold |
Q6PGF5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032237
AA Change: E451G
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: E451G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205207
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
| Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,236,727 (GRCm39) |
D446G |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
| Arhgap28 |
T |
G |
17: 68,180,154 (GRCm39) |
D81A |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,658,421 (GRCm39) |
T216S |
possibly damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
| Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
| Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
| Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
| Fdxacb1 |
T |
A |
9: 50,682,863 (GRCm39) |
S275R |
possibly damaging |
Het |
| Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
| Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
| Irf2 |
G |
T |
8: 47,299,207 (GRCm39) |
V334F |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
| Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
| Nek4 |
G |
T |
14: 30,686,008 (GRCm39) |
E314* |
probably null |
Het |
| Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
| Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
| Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
| Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation