Incidental Mutation 'IGL00090:Bms1'
ID |
1561 |
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 # |
IGL00090
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118381544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 665
(S665T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
AlphaFold |
Q6PGF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032237
AA Change: S665T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000032237 Gene: ENSMUSG00000030138 AA Change: S665T
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,854,345 (GRCm39) |
T857A |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,578,916 (GRCm39) |
|
probably benign |
Het |
Adam11 |
A |
G |
11: 102,667,657 (GRCm39) |
T709A |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,757,055 (GRCm39) |
I771V |
probably benign |
Het |
Adgrv1 |
T |
G |
13: 81,553,527 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
Adra1d |
G |
T |
2: 131,403,597 (GRCm39) |
D164E |
possibly damaging |
Het |
Ago3 |
A |
G |
4: 126,265,334 (GRCm39) |
L319P |
probably damaging |
Het |
Aim2 |
A |
G |
1: 173,283,031 (GRCm39) |
S38G |
probably benign |
Het |
Apoh |
A |
G |
11: 108,286,660 (GRCm39) |
D28G |
probably benign |
Het |
Atm |
C |
T |
9: 53,435,743 (GRCm39) |
R189K |
probably damaging |
Het |
Bbs1 |
T |
C |
19: 4,943,038 (GRCm39) |
T451A |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,101,193 (GRCm39) |
D719G |
possibly damaging |
Het |
Bcr |
T |
C |
10: 74,992,903 (GRCm39) |
|
probably benign |
Het |
Bmp2 |
A |
T |
2: 133,402,947 (GRCm39) |
Q166L |
probably benign |
Het |
Ccser1 |
A |
T |
6: 62,357,126 (GRCm39) |
T855S |
possibly damaging |
Het |
Cfap36 |
C |
T |
11: 29,172,875 (GRCm39) |
V217M |
probably benign |
Het |
Clca3b |
T |
C |
3: 144,542,393 (GRCm39) |
N470D |
probably damaging |
Het |
Cort |
A |
G |
4: 149,209,752 (GRCm39) |
F100S |
probably damaging |
Het |
Cyp4f14 |
G |
T |
17: 33,133,540 (GRCm39) |
D105E |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,009,830 (GRCm39) |
S1913P |
probably benign |
Het |
Fam91a1 |
A |
T |
15: 58,302,584 (GRCm39) |
H308L |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,166,867 (GRCm39) |
I2016M |
probably damaging |
Het |
Fibcd1 |
T |
A |
2: 31,723,886 (GRCm39) |
Q251L |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,109,416 (GRCm39) |
Y481* |
probably null |
Het |
Ly9 |
A |
T |
1: 171,421,019 (GRCm39) |
I624N |
probably damaging |
Het |
Mapt |
C |
T |
11: 104,213,311 (GRCm39) |
S301L |
probably damaging |
Het |
Meiob |
G |
A |
17: 25,042,603 (GRCm39) |
V144I |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,068,779 (GRCm39) |
C660* |
probably null |
Het |
Necab3 |
G |
T |
2: 154,389,488 (GRCm39) |
|
probably benign |
Het |
Nr2c2ap |
A |
G |
8: 70,585,279 (GRCm39) |
Y93C |
probably damaging |
Het |
Nxpe5 |
A |
G |
5: 138,247,096 (GRCm39) |
D356G |
probably benign |
Het |
Or10ak9 |
T |
A |
4: 118,726,484 (GRCm39) |
Y168N |
probably damaging |
Het |
Or2w25 |
A |
T |
11: 59,504,147 (GRCm39) |
Y119F |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,734,232 (GRCm39) |
Q1544R |
probably damaging |
Het |
Plppr4 |
T |
A |
3: 117,115,869 (GRCm39) |
T605S |
probably benign |
Het |
Poglut1 |
C |
A |
16: 38,363,278 (GRCm39) |
W167L |
possibly damaging |
Het |
Pou2f1 |
G |
T |
1: 165,729,867 (GRCm39) |
R162S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,080,417 (GRCm39) |
|
probably benign |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Rexo2 |
A |
G |
9: 48,385,747 (GRCm39) |
S126P |
probably damaging |
Het |
Robo4 |
A |
G |
9: 37,322,400 (GRCm39) |
S844G |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,513,671 (GRCm39) |
|
probably benign |
Het |
Sdc1 |
A |
G |
12: 8,840,459 (GRCm39) |
T75A |
possibly damaging |
Het |
Slc38a4 |
C |
T |
15: 96,917,690 (GRCm39) |
E12K |
probably benign |
Het |
Spata31h1 |
T |
G |
10: 82,119,586 (GRCm39) |
M4475L |
probably benign |
Het |
Tbck |
T |
C |
3: 132,448,854 (GRCm39) |
|
probably null |
Het |
Tex2 |
A |
T |
11: 106,459,361 (GRCm39) |
V23E |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,026,413 (GRCm39) |
V552A |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,296,234 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bms1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2011-07-12 |