Incidental Mutation 'R9802:Bms1'
ID |
735258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bms1
|
Ensembl Gene |
ENSMUSG00000030138 |
Gene Name |
BMS1, ribosome biogenesis factor |
Synonyms |
Bms1l |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9802 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118368147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 1039
(K1039I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
AlphaFold |
Q6PGF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032237
AA Change: K1039I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032237 Gene: ENSMUSG00000030138 AA Change: K1039I
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,786,054 (GRCm39) |
D673G |
probably benign |
Het |
Akr1b1 |
T |
C |
6: 34,283,508 (GRCm39) |
Y292C |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,486 (GRCm39) |
V118E |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,606,220 (GRCm39) |
D2154E |
possibly damaging |
Het |
Anln |
T |
C |
9: 22,245,453 (GRCm39) |
I1029M |
probably damaging |
Het |
Bltp3b |
G |
A |
10: 89,615,755 (GRCm39) |
V133I |
probably benign |
Het |
Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
Col4a2 |
A |
G |
8: 11,493,104 (GRCm39) |
N1299S |
probably benign |
Het |
Dclk3 |
A |
G |
9: 111,298,244 (GRCm39) |
D596G |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,561,388 (GRCm39) |
C2090S |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,846,384 (GRCm39) |
D1749G |
unknown |
Het |
Egr1 |
T |
C |
18: 34,995,674 (GRCm39) |
F152S |
probably damaging |
Het |
Eln |
C |
A |
5: 134,744,559 (GRCm39) |
A479S |
unknown |
Het |
Gipc3 |
G |
A |
10: 81,179,097 (GRCm39) |
|
probably benign |
Het |
Hcfc2 |
G |
T |
10: 82,574,269 (GRCm39) |
G148* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,684,391 (GRCm39) |
D393G |
probably benign |
Het |
Hnf4g |
A |
T |
3: 3,699,404 (GRCm39) |
N45Y |
probably benign |
Het |
Ighd |
G |
A |
12: 113,371,455 (GRCm39) |
P265S |
|
Het |
Igkv3-10 |
T |
C |
6: 70,550,001 (GRCm39) |
V49A |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Jmjd1c |
A |
T |
10: 67,060,745 (GRCm39) |
I852F |
possibly damaging |
Het |
Lhx5 |
T |
A |
5: 120,572,663 (GRCm39) |
V94E |
possibly damaging |
Het |
Map3k13 |
C |
A |
16: 21,740,518 (GRCm39) |
P615H |
possibly damaging |
Het |
Med12l |
T |
C |
3: 59,169,346 (GRCm39) |
W1579R |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,798,494 (GRCm39) |
L785H |
probably damaging |
Het |
Mrgpra6 |
C |
T |
7: 46,835,533 (GRCm39) |
R296K |
probably benign |
Het |
Mutyh |
A |
G |
4: 116,676,485 (GRCm39) |
S486G |
probably benign |
Het |
Naa15 |
T |
A |
3: 51,349,370 (GRCm39) |
Y96* |
probably null |
Het |
Naip1 |
C |
G |
13: 100,562,713 (GRCm39) |
E817D |
probably benign |
Het |
Nxf1 |
G |
A |
19: 8,739,772 (GRCm39) |
G42D |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,885,189 (GRCm39) |
Y8023C |
unknown |
Het |
Opn5 |
G |
A |
17: 42,903,582 (GRCm39) |
T251I |
possibly damaging |
Het |
Or4c11b |
T |
A |
2: 88,625,491 (GRCm39) |
I255K |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,735,241 (GRCm39) |
L194P |
probably damaging |
Het |
Prkab1 |
T |
C |
5: 116,162,274 (GRCm39) |
E12G |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,439,078 (GRCm39) |
F168S |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Skint3 |
T |
A |
4: 112,111,094 (GRCm39) |
V73E |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,240,342 (GRCm39) |
C445S |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,037,197 (GRCm39) |
E3792G |
probably damaging |
Het |
T |
G |
A |
17: 8,654,988 (GRCm39) |
V173M |
probably damaging |
Het |
Tsr1 |
T |
C |
11: 74,799,225 (GRCm39) |
M802T |
possibly damaging |
Het |
Ttll4 |
A |
G |
1: 74,720,482 (GRCm39) |
N499S |
probably benign |
Het |
Txnrd3 |
T |
A |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
Vmn1r195 |
T |
C |
13: 22,463,273 (GRCm39) |
Y248H |
probably damaging |
Het |
Ybx3 |
G |
A |
6: 131,345,426 (GRCm39) |
R316C |
probably benign |
Het |
Zc3h7b |
C |
T |
15: 81,676,505 (GRCm39) |
P749L |
probably damaging |
Het |
Zfp607a |
A |
T |
7: 27,578,704 (GRCm39) |
K591N |
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 |
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 |
X0067:Bms1
|
UTSW |
6 |
118,381,795 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCACACAGATGAACTTGTAG -3'
(R):5'- GTGCCTTTTATAGCTAACTGTAAGG -3'
Sequencing Primer
(F):5'- TAGTCTCTAGCCTGAAAATAGCC -3'
(R):5'- CTAACTGTAAGGAAAAGGATTTGGGC -3'
|
Posted On |
2022-11-14 |