Incidental Mutation 'R5815:Bms1'
ID |
448996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bms1
|
Ensembl Gene |
ENSMUSG00000030138 |
Gene Name |
BMS1, ribosome biogenesis factor |
Synonyms |
Bms1l |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5815 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118381240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 692
(L692H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
AlphaFold |
Q6PGF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032237
AA Change: L692H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000032237 Gene: ENSMUSG00000030138 AA Change: L692H
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
A |
G |
11: 117,726,530 (GRCm39) |
D226G |
probably benign |
Het |
Ago2 |
T |
C |
15: 72,979,215 (GRCm39) |
|
probably null |
Het |
Aldh1a1 |
C |
A |
19: 20,608,034 (GRCm39) |
D285E |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,599,820 (GRCm39) |
S1549P |
probably damaging |
Het |
Apmap |
T |
C |
2: 150,442,171 (GRCm39) |
S68G |
probably benign |
Het |
Atp8a1 |
A |
T |
5: 67,906,414 (GRCm39) |
I500N |
probably benign |
Het |
B3gnt7 |
A |
C |
1: 86,233,510 (GRCm39) |
D135A |
probably benign |
Het |
Cdk17 |
T |
A |
10: 93,064,559 (GRCm39) |
V276E |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,393,970 (GRCm39) |
E2059V |
possibly damaging |
Het |
Cpxm2 |
C |
A |
7: 131,645,839 (GRCm39) |
G693V |
probably damaging |
Het |
Crocc |
A |
T |
4: 140,762,507 (GRCm39) |
V661E |
probably damaging |
Het |
D1Pas1 |
A |
T |
1: 186,700,206 (GRCm39) |
N45I |
probably damaging |
Het |
Ddx19a |
C |
T |
8: 111,705,781 (GRCm39) |
W223* |
probably null |
Het |
Ddx60 |
C |
A |
8: 62,416,756 (GRCm39) |
S567Y |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,401,176 (GRCm39) |
N363K |
probably damaging |
Het |
Gm57859 |
C |
A |
11: 113,578,783 (GRCm39) |
|
probably null |
Het |
Gpr151 |
G |
A |
18: 42,712,450 (GRCm39) |
T76M |
probably benign |
Het |
Inhbc |
C |
T |
10: 127,193,318 (GRCm39) |
V233I |
probably benign |
Het |
Ippk |
C |
T |
13: 49,599,839 (GRCm39) |
L233F |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,862,847 (GRCm39) |
V2972A |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,394,612 (GRCm39) |
Q271R |
probably benign |
Het |
Mia2 |
A |
T |
12: 59,220,892 (GRCm39) |
K1083N |
possibly damaging |
Het |
Mphosph9 |
A |
C |
5: 124,453,481 (GRCm39) |
L277R |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,099,341 (GRCm39) |
F1694I |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,015 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2w6 |
T |
C |
13: 21,842,707 (GRCm39) |
Y262C |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,347,156 (GRCm39) |
T984A |
probably benign |
Het |
Pcdh20 |
T |
C |
14: 88,708,312 (GRCm39) |
S39G |
probably benign |
Het |
Pdia3 |
T |
A |
2: 121,266,892 (GRCm39) |
Y467* |
probably null |
Het |
Ptpn13 |
C |
A |
5: 103,745,556 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,152,431 (GRCm39) |
M2345T |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,602,603 (GRCm39) |
I20N |
probably benign |
Het |
Satb1 |
A |
G |
17: 52,089,981 (GRCm39) |
S289P |
possibly damaging |
Het |
Scd4 |
A |
T |
19: 44,326,003 (GRCm39) |
H119L |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,256,574 (GRCm39) |
T27A |
probably benign |
Het |
Slc39a14 |
A |
T |
14: 70,544,194 (GRCm39) |
I464N |
probably damaging |
Het |
Slc4a8 |
T |
A |
15: 100,686,092 (GRCm39) |
V220E |
probably benign |
Het |
Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
Tmf1 |
T |
A |
6: 97,150,364 (GRCm39) |
T448S |
probably benign |
Het |
Tspan33 |
G |
A |
6: 29,710,688 (GRCm39) |
R87Q |
probably damaging |
Het |
Vmn2r91 |
A |
T |
17: 18,326,464 (GRCm39) |
M250L |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,974,050 (GRCm39) |
V245D |
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 |
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 |
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'- TTGTGACGTGACTGTAAATACCTG -3'
(R):5'- GTCTGCACTTTTGAGTCTGC -3'
Sequencing Primer
(F):5'- GTGACTGTAAATACCTGCCAAG -3'
(R):5'- CTCTTTGGATTTGTTAACGACTGAAG -3'
|
Posted On |
2016-12-20 |