Incidental Mutation 'R1583:Bms1'
ID |
177248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bms1
|
Ensembl Gene |
ENSMUSG00000030138 |
Gene Name |
BMS1, ribosome biogenesis factor |
Synonyms |
Bms1l |
MMRRC Submission |
039620-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1583 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 118366350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
AlphaFold |
Q6PGF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032237
|
SMART Domains |
Protein: ENSMUSP00000032237 Gene: ENSMUSG00000030138
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: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
Validation Efficiency |
99% (79/80) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,030,528 (GRCm39) |
S691P |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,265,912 (GRCm39) |
|
probably null |
Het |
Ankar |
A |
G |
1: 72,718,714 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
T |
6: 87,623,015 (GRCm39) |
Y355N |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,429,373 (GRCm39) |
I182T |
probably damaging |
Het |
Cd300ld2 |
T |
C |
11: 114,904,603 (GRCm39) |
D88G |
probably benign |
Het |
Cebpz |
T |
C |
17: 79,242,181 (GRCm39) |
N491S |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,808,770 (GRCm39) |
S1415P |
probably damaging |
Het |
Ddc |
A |
G |
11: 11,779,131 (GRCm39) |
V331A |
probably benign |
Het |
Decr2 |
T |
C |
17: 26,301,998 (GRCm39) |
E244G |
probably damaging |
Het |
Dhrs11 |
A |
G |
11: 84,713,943 (GRCm39) |
M136T |
probably damaging |
Het |
Eapp |
G |
A |
12: 54,732,733 (GRCm39) |
Q126* |
probably null |
Het |
Fam111a |
T |
A |
19: 12,565,142 (GRCm39) |
V297D |
probably damaging |
Het |
Fbxo10 |
A |
C |
4: 45,062,118 (GRCm39) |
L136R |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,167,118 (GRCm39) |
H613Q |
possibly damaging |
Het |
Frk |
A |
T |
10: 34,467,806 (GRCm39) |
|
probably null |
Het |
Gm10392 |
T |
A |
11: 77,408,307 (GRCm39) |
D104V |
probably benign |
Het |
Gpn1 |
A |
G |
5: 31,654,682 (GRCm39) |
E78G |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,716,905 (GRCm39) |
Y506C |
probably damaging |
Het |
Hid1 |
G |
A |
11: 115,247,576 (GRCm39) |
S274L |
possibly damaging |
Het |
Immp2l |
G |
T |
12: 41,750,548 (GRCm39) |
|
probably benign |
Het |
Klhl21 |
T |
C |
4: 152,094,081 (GRCm39) |
F228L |
possibly damaging |
Het |
Lamc1 |
T |
A |
1: 153,119,224 (GRCm39) |
|
probably null |
Het |
Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
Lratd1 |
G |
A |
12: 14,200,409 (GRCm39) |
A106V |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,432,330 (GRCm39) |
V15A |
probably benign |
Het |
Map2k7 |
T |
C |
8: 4,293,621 (GRCm39) |
|
probably null |
Het |
Mga |
T |
A |
2: 119,794,441 (GRCm39) |
H2590Q |
possibly damaging |
Het |
Mlxip |
T |
C |
5: 123,588,286 (GRCm39) |
I238T |
possibly damaging |
Het |
Mylk |
T |
A |
16: 34,695,956 (GRCm39) |
D230E |
probably benign |
Het |
Nacad |
T |
A |
11: 6,551,185 (GRCm39) |
T669S |
probably benign |
Het |
Nin |
C |
T |
12: 70,078,512 (GRCm39) |
M1691I |
probably benign |
Het |
Nlrp4d |
C |
T |
7: 10,116,164 (GRCm39) |
A203T |
probably damaging |
Het |
Or10aa1 |
T |
C |
1: 173,870,046 (GRCm39) |
F177L |
probably benign |
Het |
Or10q12 |
A |
T |
19: 13,745,874 (GRCm39) |
H56L |
probably benign |
Het |
Or4c106 |
T |
G |
2: 88,682,606 (GRCm39) |
F104C |
probably damaging |
Het |
Or4k5 |
C |
A |
14: 50,386,231 (GRCm39) |
M33I |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,584,770 (GRCm39) |
M59L |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,394 (GRCm39) |
V212A |
probably benign |
Het |
Osbp |
C |
A |
19: 11,955,193 (GRCm39) |
Q282K |
probably benign |
Het |
Osbpl2 |
A |
G |
2: 179,790,256 (GRCm39) |
S177G |
probably damaging |
Het |
Pax1 |
A |
G |
2: 147,208,175 (GRCm39) |
H261R |
possibly damaging |
Het |
Pcif1 |
A |
T |
2: 164,728,647 (GRCm39) |
L274F |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,188,049 (GRCm39) |
S3420P |
probably benign |
Het |
Prss3 |
A |
C |
6: 41,354,561 (GRCm39) |
|
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,400,563 (GRCm39) |
T751A |
possibly damaging |
Het |
Pus10 |
T |
C |
11: 23,623,239 (GRCm39) |
V126A |
probably damaging |
Het |
Rai14 |
A |
C |
15: 10,588,002 (GRCm39) |
D258E |
probably damaging |
Het |
Rbp3 |
T |
C |
14: 33,676,481 (GRCm39) |
V143A |
possibly damaging |
Het |
Sarm1 |
G |
A |
11: 78,374,153 (GRCm39) |
Q625* |
probably null |
Het |
Scgb1b21 |
T |
G |
7: 33,227,092 (GRCm39) |
|
noncoding transcript |
Het |
Scrn1 |
A |
T |
6: 54,497,754 (GRCm39) |
V279E |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,148,634 (GRCm39) |
T1670A |
probably damaging |
Het |
Slc9a4 |
A |
T |
1: 40,640,122 (GRCm39) |
I305F |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 110,042,685 (GRCm39) |
T918A |
probably damaging |
Het |
Tas2r109 |
A |
T |
6: 132,957,389 (GRCm39) |
H180Q |
probably benign |
Het |
Tas2r121 |
G |
A |
6: 132,677,193 (GRCm39) |
R260* |
probably null |
Het |
Tenm3 |
T |
C |
8: 48,732,109 (GRCm39) |
D1249G |
probably benign |
Het |
Tgtp1 |
C |
G |
11: 48,878,357 (GRCm39) |
G116A |
probably damaging |
Het |
Tial1 |
A |
G |
7: 128,045,634 (GRCm39) |
Y317H |
probably damaging |
Het |
Top6bl |
T |
A |
19: 4,702,199 (GRCm39) |
K282N |
probably damaging |
Het |
Trim66 |
A |
T |
7: 109,054,287 (GRCm39) |
W1308R |
probably damaging |
Het |
Ulk2 |
T |
G |
11: 61,674,371 (GRCm39) |
K878N |
possibly damaging |
Het |
Zfp41 |
T |
A |
15: 75,490,140 (GRCm39) |
S31T |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCCTTCTGAAAACCCACTCTAAT -3'
(R):5'- GGCCACTTCACACCTGTAAATCCCT -3'
Sequencing Primer
(F):5'- GCAGCAGCTAGACTCAATAATG -3'
(R):5'- TAATGAGCTACCAGTAATTAGCCTAC -3'
|
Posted On |
2014-04-24 |