Incidental Mutation 'R7811:Bms1'
ID |
601159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bms1
|
Ensembl Gene |
ENSMUSG00000030138 |
Gene Name |
BMS1, ribosome biogenesis factor |
Synonyms |
Bms1l |
MMRRC Submission |
045866-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7811 (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 118380099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 736
(D736G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032237]
|
AlphaFold |
Q6PGF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032237
AA Change: D736G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032237 Gene: ENSMUSG00000030138 AA Change: D736G
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: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,527,141 (GRCm39) |
|
probably null |
Het |
Abca3 |
A |
G |
17: 24,616,362 (GRCm39) |
T935A |
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,510,254 (GRCm39) |
Y399N |
probably benign |
Het |
Arhgef10l |
G |
T |
4: 140,242,335 (GRCm39) |
T1030K |
possibly damaging |
Het |
Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
Bpifb1 |
T |
A |
2: 154,048,484 (GRCm39) |
|
probably null |
Het |
Cbx4 |
A |
C |
11: 118,972,398 (GRCm39) |
C326G |
probably benign |
Het |
Ccdc188 |
A |
G |
16: 18,036,314 (GRCm39) |
E94G |
probably benign |
Het |
Cdh5 |
A |
G |
8: 104,852,235 (GRCm39) |
T117A |
possibly damaging |
Het |
Cdk11b |
A |
G |
4: 155,724,359 (GRCm39) |
T326A |
unknown |
Het |
Clec5a |
C |
T |
6: 40,558,867 (GRCm39) |
C73Y |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
Diaph3 |
T |
C |
14: 87,219,060 (GRCm39) |
D455G |
probably damaging |
Het |
Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
Ern1 |
A |
T |
11: 106,325,694 (GRCm39) |
V112D |
unknown |
Het |
Eya3 |
T |
C |
4: 132,439,272 (GRCm39) |
I466T |
possibly damaging |
Het |
Fbxl6 |
T |
C |
15: 76,421,485 (GRCm39) |
|
probably null |
Het |
Ffar1 |
A |
G |
7: 30,560,802 (GRCm39) |
S32P |
possibly damaging |
Het |
Fgb |
T |
C |
3: 82,957,004 (GRCm39) |
D22G |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,828,797 (GRCm39) |
Y6865H |
possibly damaging |
Het |
Gbx1 |
T |
C |
5: 24,710,035 (GRCm39) |
E270G |
probably damaging |
Het |
Golga4 |
T |
C |
9: 118,361,643 (GRCm39) |
L207P |
probably damaging |
Het |
Hnrnpa1 |
T |
C |
15: 103,149,900 (GRCm39) |
S54P |
possibly damaging |
Het |
Htr4 |
A |
G |
18: 62,545,269 (GRCm39) |
E18G |
possibly damaging |
Het |
Ide |
A |
C |
19: 37,307,910 (GRCm39) |
L34R |
|
Het |
Ip6k3 |
A |
T |
17: 27,376,557 (GRCm39) |
Y51* |
probably null |
Het |
Keap1 |
A |
G |
9: 21,148,956 (GRCm39) |
L17P |
possibly damaging |
Het |
Lrrn2 |
T |
C |
1: 132,866,939 (GRCm39) |
V668A |
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,281,064 (GRCm39) |
T209S |
possibly damaging |
Het |
Myo10 |
T |
C |
15: 25,804,610 (GRCm39) |
I1635T |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,234,544 (GRCm39) |
V299E |
probably damaging |
Het |
Nadk |
A |
T |
4: 155,661,332 (GRCm39) |
|
probably benign |
Het |
Nalcn |
A |
T |
14: 123,536,357 (GRCm39) |
W1231R |
probably damaging |
Het |
Odf2l |
A |
G |
3: 144,859,148 (GRCm39) |
T602A |
probably benign |
Het |
Or13g1 |
T |
A |
7: 85,955,554 (GRCm39) |
T256S |
probably damaging |
Het |
Or2r3 |
T |
A |
6: 42,448,635 (GRCm39) |
E159V |
probably damaging |
Het |
Pde6c |
T |
C |
19: 38,128,507 (GRCm39) |
V190A |
possibly damaging |
Het |
Ppp4r3a |
C |
A |
12: 101,019,821 (GRCm39) |
R378L |
probably damaging |
Het |
Pus7l |
A |
C |
15: 94,438,707 (GRCm39) |
V46G |
probably damaging |
Het |
Satb2 |
G |
A |
1: 56,884,880 (GRCm39) |
S466L |
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,620,395 (GRCm39) |
M118T |
probably damaging |
Het |
Slc29a1 |
T |
C |
17: 45,897,189 (GRCm39) |
R366G |
probably damaging |
Het |
Slc6a1 |
T |
C |
6: 114,279,515 (GRCm39) |
F98S |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,824,164 (GRCm39) |
I738T |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,141,221 (GRCm39) |
V1667A |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,684,248 (GRCm39) |
N574S |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,136,948 (GRCm39) |
S54P |
possibly damaging |
Het |
Trim12c |
T |
C |
7: 103,990,469 (GRCm39) |
N336S |
unknown |
Het |
Ubap2 |
T |
C |
4: 41,211,710 (GRCm39) |
S351G |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,600,553 (GRCm39) |
A1397E |
possibly damaging |
Het |
Ush1c |
G |
A |
7: 45,854,710 (GRCm39) |
R681* |
probably null |
Het |
Vmn2r57 |
A |
T |
7: 41,074,439 (GRCm39) |
C541* |
probably null |
Het |
Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,656,160 (GRCm39) |
T790S |
|
Het |
Zfp568 |
A |
G |
7: 29,697,295 (GRCm39) |
T72A |
possibly damaging |
Het |
Zfp950 |
A |
T |
19: 61,108,353 (GRCm39) |
Y243* |
probably null |
Het |
Zmym5 |
A |
G |
14: 57,036,434 (GRCm39) |
S238P |
probably damaging |
Het |
Zswim5 |
A |
G |
4: 116,734,673 (GRCm39) |
E6G |
unknown |
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 |
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'- CCTGCATTTGACCCTGTGTG -3'
(R):5'- ACATGTCTATAAGGACCAGAGACC -3'
Sequencing Primer
(F):5'- CCCTGTGTGTGGGGAGG -3'
(R):5'- CACAGTCCCTTGAATTCTAGGAAGTG -3'
|
Posted On |
2019-11-26 |