Incidental Mutation 'IGL03230:Bms1'
| ID |
413870 |
| 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 # |
IGL03230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118395522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 8
(K8N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
| AlphaFold |
Q6PGF5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032237
AA Change: K8N
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: K8N
| 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: ENSMUST00000203444
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,244,313 (GRCm39) |
Q2059K |
probably benign |
Het |
| Abcc1 |
A |
T |
16: 14,275,811 (GRCm39) |
T902S |
probably benign |
Het |
| Acly |
A |
T |
11: 100,384,885 (GRCm39) |
C623S |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,599,935 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,918,065 (GRCm39) |
D1811G |
probably damaging |
Het |
| Cdc25b |
T |
C |
2: 131,030,060 (GRCm39) |
F79L |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,969,056 (GRCm39) |
V471D |
probably damaging |
Het |
| Cnot4 |
T |
C |
6: 35,028,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,729,017 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,172,302 (GRCm39) |
R406W |
possibly damaging |
Het |
| Cyp2g1 |
C |
A |
7: 26,518,828 (GRCm39) |
P408Q |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,314 (GRCm39) |
D39G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,992,023 (GRCm39) |
S3020T |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,223,133 (GRCm39) |
K1119* |
probably null |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,248,519 (GRCm39) |
I94N |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,400,948 (GRCm39) |
A461T |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,724 (GRCm39) |
I52T |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,090,550 (GRCm39) |
M1146K |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,653,293 (GRCm39) |
T293K |
probably benign |
Het |
| Luzp1 |
G |
A |
4: 136,270,189 (GRCm39) |
S804N |
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 10,002,221 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
G |
T |
13: 76,972,976 (GRCm39) |
A403S |
possibly damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,435 (GRCm39) |
I132T |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,296,710 (GRCm39) |
N103K |
probably damaging |
Het |
| Nipal2 |
T |
A |
15: 34,575,702 (GRCm39) |
D352V |
probably damaging |
Het |
| Oas1a |
T |
A |
5: 121,036,419 (GRCm39) |
K336I |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,075,115 (GRCm39) |
S392P |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,911 (GRCm39) |
L99P |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,099 (GRCm39) |
T40A |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,955,892 (GRCm39) |
F61S |
probably damaging |
Het |
| Or4c120 |
A |
T |
2: 89,001,433 (GRCm39) |
M41K |
possibly damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,457 (GRCm39) |
T287A |
probably benign |
Het |
| Or5m8 |
A |
T |
2: 85,822,583 (GRCm39) |
T141S |
probably benign |
Het |
| Pate3 |
T |
G |
9: 35,557,402 (GRCm39) |
T85P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,174,791 (GRCm39) |
N1988D |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,272 (GRCm39) |
I92N |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,968,654 (GRCm39) |
R213* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,766 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,717,524 (GRCm39) |
D80G |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,230,531 (GRCm39) |
V472A |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,707,760 (GRCm39) |
D485E |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,297 (GRCm39) |
V292A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,390 (GRCm39) |
A1485S |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,650 (GRCm39) |
R117S |
probably damaging |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,668 (GRCm39) |
P352H |
probably benign |
Het |
| Zxdc |
C |
T |
6: 90,350,785 (GRCm39) |
T412I |
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 |
|
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 |
2016-08-02 |
Incidental Mutation