Incidental Mutation 'R6389:Bms1'
ID |
515690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bms1
|
Ensembl Gene |
ENSMUSG00000030138 |
Gene Name |
BMS1, ribosome biogenesis factor |
Synonyms |
Bms1l |
MMRRC Submission |
044538-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6389 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
118360342-118396435 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118380196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 704
(N704D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
AlphaFold |
Q6PGF5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032237
AA Change: N704D
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032237 Gene: ENSMUSG00000030138 AA Change: N704D
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
C |
7: 43,147,254 (GRCm39) |
L326R |
possibly damaging |
Het |
Abcb11 |
A |
T |
2: 69,154,238 (GRCm39) |
N109K |
probably damaging |
Het |
Actn1 |
T |
A |
12: 80,221,296 (GRCm39) |
M586L |
probably benign |
Het |
Ago4 |
T |
A |
4: 126,401,037 (GRCm39) |
I603F |
probably damaging |
Het |
Bicc1 |
A |
T |
10: 70,794,752 (GRCm39) |
V135D |
probably damaging |
Het |
Cadm4 |
A |
C |
7: 24,198,959 (GRCm39) |
Q78P |
probably benign |
Het |
Cfap74 |
T |
C |
4: 155,507,793 (GRCm39) |
I248T |
possibly damaging |
Het |
Clu |
G |
C |
14: 66,208,771 (GRCm39) |
|
probably benign |
Het |
Cnnm3 |
T |
C |
1: 36,559,603 (GRCm39) |
V514A |
probably damaging |
Het |
Cntd1 |
A |
T |
11: 101,176,577 (GRCm39) |
I225F |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,634,376 (GRCm39) |
|
probably null |
Het |
Ctnnal1 |
A |
G |
4: 56,813,849 (GRCm39) |
V640A |
probably benign |
Het |
Cul4a |
A |
G |
8: 13,190,278 (GRCm39) |
T572A |
probably benign |
Het |
D16Ertd472e |
A |
G |
16: 78,342,071 (GRCm39) |
S270P |
probably damaging |
Het |
Dmp1 |
A |
T |
5: 104,360,788 (GRCm39) |
N488I |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,478,767 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,232,265 (GRCm39) |
L3464P |
probably damaging |
Het |
Fnbp4 |
C |
T |
2: 90,575,879 (GRCm39) |
P27S |
unknown |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,230 (GRCm39) |
F304I |
probably damaging |
Het |
Gm13941 |
T |
C |
2: 110,928,734 (GRCm39) |
Q108R |
unknown |
Het |
Hcn3 |
C |
T |
3: 89,058,240 (GRCm39) |
A339T |
possibly damaging |
Het |
Inpp5f |
A |
G |
7: 128,279,780 (GRCm39) |
D460G |
probably damaging |
Het |
Ism2 |
T |
C |
12: 87,329,145 (GRCm39) |
E253G |
possibly damaging |
Het |
Klrg1 |
T |
C |
6: 122,248,431 (GRCm39) |
N156S |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,552,907 (GRCm39) |
N5S |
probably benign |
Het |
Lrrc7 |
T |
G |
3: 157,891,063 (GRCm39) |
E368A |
probably damaging |
Het |
Ly9 |
G |
C |
1: 171,424,105 (GRCm39) |
S482C |
probably damaging |
Het |
Map3k1 |
T |
C |
13: 111,905,975 (GRCm39) |
D289G |
probably damaging |
Het |
Mcub |
T |
C |
3: 129,712,357 (GRCm39) |
T173A |
probably benign |
Het |
Mup16 |
T |
C |
4: 61,437,177 (GRCm39) |
E48G |
probably damaging |
Het |
Naf1 |
C |
T |
8: 67,313,680 (GRCm39) |
S24L |
possibly damaging |
Het |
Ncoa6 |
A |
G |
2: 155,237,736 (GRCm39) |
S2024P |
probably damaging |
Het |
Nop56 |
C |
A |
2: 130,119,807 (GRCm39) |
Q83K |
probably damaging |
Het |
Nt5e |
T |
C |
9: 88,245,524 (GRCm39) |
Y265H |
probably damaging |
Het |
Odad1 |
G |
T |
7: 45,597,940 (GRCm39) |
V617F |
probably benign |
Het |
Or4a27 |
A |
G |
2: 88,559,016 (GRCm39) |
V309A |
probably benign |
Het |
Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
Or5w8 |
C |
T |
2: 87,688,367 (GRCm39) |
P283S |
probably damaging |
Het |
Oxct2a |
T |
A |
4: 123,217,220 (GRCm39) |
K54* |
probably null |
Het |
Oxct2b |
G |
T |
4: 123,010,367 (GRCm39) |
D96Y |
probably benign |
Het |
Pisd |
A |
G |
5: 32,922,191 (GRCm39) |
Y250H |
probably damaging |
Het |
Plekhm1 |
G |
T |
11: 103,257,720 (GRCm39) |
N1071K |
probably benign |
Het |
Prr11 |
G |
A |
11: 86,989,564 (GRCm39) |
T269I |
possibly damaging |
Het |
Ptpn4 |
T |
A |
1: 119,649,684 (GRCm39) |
H304L |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,601 (GRCm39) |
K383E |
possibly damaging |
Het |
Sel1l2 |
C |
A |
2: 140,087,274 (GRCm39) |
A466S |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,619,844 (GRCm39) |
I57V |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,977,137 (GRCm39) |
E81G |
probably damaging |
Het |
Tbr1 |
A |
G |
2: 61,636,631 (GRCm39) |
|
probably benign |
Het |
Tnrc6c |
A |
G |
11: 117,613,567 (GRCm39) |
D735G |
probably damaging |
Het |
Tspan17 |
A |
T |
13: 54,943,429 (GRCm39) |
|
probably null |
Het |
Tyw5 |
T |
C |
1: 57,430,658 (GRCm39) |
K175R |
probably damaging |
Het |
Ube2o |
A |
C |
11: 116,439,684 (GRCm39) |
I162R |
probably null |
Het |
Ubr1 |
G |
T |
2: 120,711,520 (GRCm39) |
T1458K |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,478,344 (GRCm39) |
Q33L |
probably benign |
Het |
Zfp1007 |
G |
A |
5: 109,823,885 (GRCm39) |
P522S |
possibly damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,552 (GRCm39) |
L238P |
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 |
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'- GCCTCTTTCCAAAGGCAACAG -3'
(R):5'- TTGCAAGAGGATAAGTCTCCCAG -3'
Sequencing Primer
(F):5'- GGCAACAGACTAGTCAGCGTTAC -3'
(R):5'- AATGGTAGATTTTTAGCTTTTGGACC -3'
|
Posted On |
2018-05-04 |