Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00763:Bms1'

9282

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00763

Quality Score

Status

Chromosome

Chromosomal Location

118360342-118396435 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 118395363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000032237

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138

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

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp3	A	C	5: 99,020,238 (GRCm39)	R220S	possibly damaging	Het
Ccdc138	T	A	10: 58,411,537 (GRCm39)	F635Y	probably damaging	Het
Ccdc81	T	C	7: 89,518,823 (GRCm39)		probably benign	Het
Cntnap5a	T	C	1: 116,045,407 (GRCm39)	I341T	possibly damaging	Het
Cog5	C	T	12: 31,715,531 (GRCm39)		probably benign	Het
Dcaf4	G	A	12: 83,586,107 (GRCm39)	R358H	probably damaging	Het
Ddx10	A	C	9: 53,071,326 (GRCm39)		probably benign	Het
Fgf15	T	A	7: 144,453,629 (GRCm39)	F201I	probably damaging	Het
Galp	A	G	7: 6,211,499 (GRCm39)	Y40C	probably damaging	Het
Ints6	A	G	14: 62,938,314 (GRCm39)		probably benign	Het
Iqcb1	A	T	16: 36,676,649 (GRCm39)		probably benign	Het
Kif19a	G	A	11: 114,657,994 (GRCm39)	V18I	probably benign	Het
Lypd8l	T	G	11: 58,503,707 (GRCm39)		probably benign	Het
Morc1	A	C	16: 48,432,689 (GRCm39)	Q719P	probably damaging	Het
Pla2g4a	T	C	1: 149,727,076 (GRCm39)	D568G	probably damaging	Het
Plscr4	A	G	9: 92,366,998 (GRCm39)	E204G	probably null	Het
Rasgrf1	A	G	9: 89,853,073 (GRCm39)	T403A	probably benign	Het
Sec16b	A	G	1: 157,356,827 (GRCm39)	T12A	probably benign	Het
Slc12a7	A	T	13: 73,942,201 (GRCm39)	N359I	possibly damaging	Het
Slc14a2	G	T	18: 78,235,453 (GRCm39)	D241E	probably damaging	Het
Slc23a2	G	T	2: 131,943,420 (GRCm39)	A27E	probably benign	Het
Slc38a8	T	C	8: 120,220,958 (GRCm39)	I200M	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Tmc6	A	G	11: 117,669,872 (GRCm39)	L20P	probably damaging	Het
Tnfsfm13	T	C	11: 69,575,536 (GRCm39)	D256G	probably benign	Het
Tonsl	C	T	15: 76,518,068 (GRCm39)	A605T	probably damaging	Het
Usp28	A	G	9: 48,939,463 (GRCm39)	T240A	probably benign	Het
Zap70	A	T	1: 36,818,333 (GRCm39)	D340V	possibly damaging	Het
Zfp512b	A	T	2: 181,231,944 (GRCm39)	F100I	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
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
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

2012-12-06