Incidental Mutation 'IGL02005:Bms1'
| ID |
183151 |
| 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 # |
IGL02005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118381546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 664
(T664M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
| AlphaFold |
Q6PGF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032237
AA Change: T664M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: T664M
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,965,927 (GRCm39) |
D141G |
probably damaging |
Het |
| Ankhd1 |
T |
G |
18: 36,781,479 (GRCm39) |
L2177R |
probably damaging |
Het |
| Arhgap23 |
A |
T |
11: 97,382,045 (GRCm39) |
D1136V |
probably damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,730,896 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,701 (GRCm39) |
T65A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,243,638 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,867,576 (GRCm39) |
H469Y |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,616,957 (GRCm39) |
D110G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,105,779 (GRCm39) |
E1786K |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,045 (GRCm39) |
K321E |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,446,007 (GRCm39) |
D383G |
probably damaging |
Het |
| Crcp |
T |
G |
5: 130,071,074 (GRCm39) |
C58G |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,921,975 (GRCm39) |
Y807C |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,785,132 (GRCm39) |
|
probably benign |
Het |
| Glce |
A |
T |
9: 61,967,859 (GRCm39) |
L431I |
probably damaging |
Het |
| Glp1r |
C |
A |
17: 31,143,585 (GRCm39) |
T207K |
probably benign |
Het |
| Gm28042 |
G |
A |
2: 119,865,115 (GRCm39) |
V247I |
possibly damaging |
Het |
| Gvin-ps5 |
G |
T |
7: 105,928,627 (GRCm39) |
F423L |
unknown |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,056 (GRCm39) |
H76L |
probably benign |
Het |
| Hoxb13 |
G |
A |
11: 96,085,435 (GRCm39) |
G56D |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,842 (GRCm39) |
E27G |
possibly damaging |
Het |
| Kars1 |
A |
T |
8: 112,726,736 (GRCm39) |
L321* |
probably null |
Het |
| Klhl12 |
A |
T |
1: 134,391,652 (GRCm39) |
T95S |
possibly damaging |
Het |
| Klhl14 |
A |
T |
18: 21,757,668 (GRCm39) |
Y347* |
probably null |
Het |
| Kmt5b |
A |
G |
19: 3,836,538 (GRCm39) |
H25R |
possibly damaging |
Het |
| Krtap12-1 |
T |
A |
10: 77,556,823 (GRCm39) |
V122D |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,077 (GRCm39) |
D322G |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,920 (GRCm39) |
V422D |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,152,368 (GRCm39) |
M1051R |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,937,728 (GRCm39) |
Y242C |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,692,803 (GRCm39) |
I107L |
possibly damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,950,810 (GRCm39) |
D93G |
probably benign |
Het |
| Pgap1 |
C |
A |
1: 54,590,214 (GRCm39) |
A75S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,804,978 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Prcp |
T |
C |
7: 92,577,032 (GRCm39) |
S319P |
probably benign |
Het |
| Rasal2 |
G |
A |
1: 156,984,568 (GRCm39) |
Q1035* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,608 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,236,145 (GRCm39) |
I544T |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,069,056 (GRCm39) |
V2910E |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,655,104 (GRCm39) |
L1278H |
probably damaging |
Het |
| Tti2 |
G |
T |
8: 31,645,858 (GRCm39) |
G391C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,778,363 (GRCm39) |
M1295I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,554,313 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
G |
A |
7: 23,306,338 (GRCm39) |
V247M |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,734,455 (GRCm39) |
Y125H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,225 (GRCm39) |
R105H |
probably benign |
Het |
| Zc3h11a |
A |
G |
1: 133,549,880 (GRCm39) |
S699P |
probably benign |
Het |
| Zkscan14 |
C |
T |
5: 145,132,419 (GRCm39) |
V371I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,779,125 (GRCm39) |
Y1862F |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation