Incidental Mutation 'R6299:Bms1'
| ID |
508963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bms1
|
| Ensembl Gene |
ENSMUSG00000030138 |
| Gene Name |
BMS1, ribosome biogenesis factor |
| Synonyms |
Bms1l |
| MMRRC Submission |
044465-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6299 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118395476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 24
(R24W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
| AlphaFold |
Q6PGF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032237
AA Change: R24W
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: R24W
| 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
|
| Meta Mutation Damage Score |
0.1126 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C130050O18Rik |
A |
T |
5: 139,400,126 (GRCm39) |
S60C |
probably damaging |
Het |
| Cabcoco1 |
A |
G |
10: 68,272,720 (GRCm39) |
Y222H |
probably damaging |
Het |
| Cc2d1b |
T |
C |
4: 108,485,335 (GRCm39) |
V559A |
probably benign |
Het |
| Cgrrf1 |
T |
A |
14: 47,077,647 (GRCm39) |
N46K |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,464,275 (GRCm39) |
D114G |
probably damaging |
Het |
| Clcnkb |
T |
A |
4: 141,138,034 (GRCm39) |
L279F |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 194,850,954 (GRCm39) |
T151A |
probably damaging |
Het |
| Creb3l3 |
C |
T |
10: 80,924,447 (GRCm39) |
E236K |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,618,599 (GRCm39) |
V336D |
probably damaging |
Het |
| Dop1a |
T |
G |
9: 86,386,265 (GRCm39) |
F379V |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 139,965,554 (GRCm39) |
K714R |
possibly damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,388,513 (GRCm39) |
M1L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,121 (GRCm39) |
R354G |
probably benign |
Het |
| Fastkd3 |
T |
C |
13: 68,735,855 (GRCm39) |
L535P |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,731,066 (GRCm39) |
T12A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,386,438 (GRCm39) |
S1187T |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,325,140 (GRCm39) |
V173A |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,272,016 (GRCm39) |
Y2566C |
probably damaging |
Het |
| Inpp5f |
A |
T |
7: 128,237,884 (GRCm39) |
T34S |
possibly damaging |
Het |
| Iqck |
G |
A |
7: 118,475,485 (GRCm39) |
G70S |
unknown |
Het |
| Jade1 |
T |
C |
3: 41,568,160 (GRCm39) |
F743L |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,069,690 (GRCm39) |
K845R |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,285,636 (GRCm39) |
|
probably null |
Het |
| Map2k1 |
T |
C |
9: 64,121,772 (GRCm39) |
D67G |
possibly damaging |
Het |
| Mcm9 |
A |
C |
10: 53,413,777 (GRCm39) |
C434W |
probably damaging |
Het |
| Muc4 |
T |
G |
16: 32,570,853 (GRCm39) |
S638A |
possibly damaging |
Het |
| Nectin3 |
A |
G |
16: 46,284,345 (GRCm39) |
V113A |
probably damaging |
Het |
| Nfya |
T |
C |
17: 48,699,938 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
G |
T |
15: 8,157,922 (GRCm39) |
A460S |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,051,270 (GRCm39) |
E371G |
possibly damaging |
Het |
| Olfm3 |
T |
C |
3: 114,914,632 (GRCm39) |
S228P |
probably damaging |
Het |
| Or52n20 |
C |
A |
7: 104,320,075 (GRCm39) |
D55E |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
| Plin1 |
A |
C |
7: 79,371,224 (GRCm39) |
V500G |
probably benign |
Het |
| Ppfia1 |
A |
C |
7: 144,064,049 (GRCm39) |
M513R |
probably benign |
Het |
| Ppp1cb |
T |
A |
5: 32,640,798 (GRCm39) |
C27* |
probably null |
Het |
| Prss22 |
T |
A |
17: 24,215,408 (GRCm39) |
I123F |
probably damaging |
Het |
| Rbm24 |
G |
T |
13: 46,572,549 (GRCm39) |
V15L |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,491,942 (GRCm39) |
T97A |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,180,203 (GRCm39) |
T1065A |
possibly damaging |
Het |
| Sipa1l3 |
A |
C |
7: 29,065,974 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,064,081 (GRCm39) |
Y689* |
probably null |
Het |
| Srcap |
T |
C |
7: 127,129,626 (GRCm39) |
|
probably benign |
Het |
| Sv2a |
T |
C |
3: 96,095,565 (GRCm39) |
|
probably null |
Het |
| Tcf12 |
A |
T |
9: 71,766,211 (GRCm39) |
V474D |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,815,980 (GRCm39) |
S403T |
probably damaging |
Het |
| Trim65 |
C |
A |
11: 116,017,377 (GRCm39) |
A362S |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,423,919 (GRCm39) |
C36* |
probably null |
Het |
| Trpm8 |
T |
A |
1: 88,282,201 (GRCm39) |
L699Q |
probably damaging |
Het |
| Ube2m |
A |
C |
7: 12,769,797 (GRCm39) |
I116R |
probably damaging |
Het |
| Ulk1 |
T |
C |
5: 110,938,963 (GRCm39) |
K492E |
possibly damaging |
Het |
| Usp40 |
T |
A |
1: 87,925,649 (GRCm39) |
K193N |
probably damaging |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,098 (GRCm39) |
S70P |
possibly damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,074 (GRCm39) |
K836* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,814,482 (GRCm39) |
H337L |
probably benign |
Het |
| Wars1 |
G |
A |
12: 108,827,309 (GRCm39) |
T437M |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,825 (GRCm39) |
T451A |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,297,965 (GRCm39) |
H180Q |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,717,782 (GRCm39) |
E59G |
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 |
|
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 |
|
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'- GCAAATGCCATCTGGGAGAG -3'
(R):5'- CTTTATGGCGTAAGAAAGGGAC -3'
Sequencing Primer
(F):5'- AGGCTCCCAGTACTTAAGGG -3'
(R):5'- ACGTGAATTTGAAGATACTGGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation