Mutagenetix > Incidental Mutation

Incidental Mutation 'R0028:Bms1'

18666

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) question?

Stock #

R0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118360342-118396435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118393480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 131 (I131V)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032237]

AlphaFold

Q6PGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000032237
AA Change: I131V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: I131V

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

0.0795

Coding Region Coverage

1x: 80.7%
3x: 72.7%
10x: 50.3%
20x: 30.1%

Validation Efficiency

96% (74/77)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,596,698 (GRCm39)	F384L	probably benign	Het
AC159748.1	T	C	10: 5,542,006 (GRCm38)		silent	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Ccdc107	A	G	4: 43,495,549 (GRCm39)	T151A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,465,231 (GRCm39)		probably null	Het
Creb1	A	G	1: 64,609,307 (GRCm39)	D126G	probably damaging	Het
Ddb1	T	A	19: 10,596,610 (GRCm39)	V443E	probably damaging	Het
Dnmt3a	T	A	12: 3,950,337 (GRCm39)	S634T	probably damaging	Het
Fras1	A	C	5: 96,825,175 (GRCm39)	N1455T	probably benign	Het
Fyb1	A	G	15: 6,674,395 (GRCm39)		probably benign	Het
Gpr141	C	T	13: 19,936,599 (GRCm39)	V59M	probably damaging	Het
Ikbke	T	C	1: 131,199,921 (GRCm39)	I222V	possibly damaging	Het
Macf1	A	T	4: 123,275,895 (GRCm39)	H6222Q	probably damaging	Het
Mapk8ip3	C	T	17: 25,123,871 (GRCm39)		probably benign	Het
Phactr1	A	T	13: 43,210,655 (GRCm39)	D74V	probably damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Rnasel	A	T	1: 153,630,465 (GRCm39)	D327V	probably benign	Het
Slc25a13	T	C	6: 6,181,047 (GRCm39)	N46D	probably benign	Het
Slc28a2	T	A	2: 122,282,083 (GRCm39)	F261L	probably damaging	Het
Slc6a15	A	T	10: 103,252,541 (GRCm39)	Y568F	probably benign	Het
Slc7a1	A	G	5: 148,272,321 (GRCm39)	V452A	probably benign	Het
Tectb	T	C	19: 55,183,109 (GRCm39)	I330T	probably benign	Het
Tmem92	C	T	11: 94,669,778 (GRCm39)	V118I	possibly damaging	Het
Tmf1	T	C	6: 97,135,059 (GRCm39)	E985G	probably damaging	Het
Traf5	T	A	1: 191,758,421 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,851,016 (GRCm39)	E731G	probably damaging	Het
Unc5a	A	G	13: 55,151,726 (GRCm39)	S50G	possibly damaging	Het
Wrnip1	T	C	13: 33,004,280 (GRCm39)	L517P	probably damaging	Het
Zfp202	T	A	9: 40,123,048 (GRCm39)	H603Q	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
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
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

Posted On

2013-03-25