Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02474:Bms1'

294842

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 #

IGL02474

Quality Score

Status

Chromosome

Chromosomal Location

118383381-118419474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118416519 bp (GRCm38)

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 13,818,229	E283G	probably damaging	Het
Ahnak	A	G	19: 9,004,933	I1194V	probably benign	Het
Aqr	T	A	2: 114,112,646	N1149Y	probably damaging	Het
Cacna1s	A	C	1: 136,118,380	T1461P	probably benign	Het
Chrnb3	T	C	8: 27,393,369	S113P	probably damaging	Het
Col1a2	C	T	6: 4,516,398	R171C	unknown	Het
Cramp1l	A	G	17: 24,985,050	V318A	probably damaging	Het
Csf2ra	A	G	19: 61,226,537	V163A	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ctnnd2	A	G	15: 30,669,562	D439G	possibly damaging	Het
Dnah11	T	A	12: 118,027,445		probably null	Het
Dyrk4	C	A	6: 126,880,231	C495F	probably damaging	Het
Gabra6	A	G	11: 42,307,417	V402A	probably benign	Het
Gba2	T	C	4: 43,568,538	M643V	possibly damaging	Het
Gbp9	A	T	5: 105,094,567		probably benign	Het
Ginm1	A	G	10: 7,777,768		probably benign	Het
Git1	T	A	11: 77,503,391	D282E	probably damaging	Het
Gm5799	T	C	14: 43,544,629	I86T	probably damaging	Het
Gm9894	T	C	13: 67,765,094		noncoding transcript	Het
Gng12	A	G	6: 67,015,761	K4R	probably benign	Het
Hnrnpul1	A	T	7: 25,726,757	D556E	probably benign	Het
Kat6b	T	A	14: 21,669,039	L1153Q	possibly damaging	Het
Ly75	A	T	2: 60,383,182	L17Q	probably null	Het
Mc5r	T	C	18: 68,338,839	F90L	probably damaging	Het
Olfr1356	A	T	10: 78,847,063	M284K	probably damaging	Het
Olfr175-ps1	A	T	16: 58,824,656	S18T	probably benign	Het
Olfr524	T	C	7: 140,202,587	Y61C	probably damaging	Het
Olfr54	C	A	11: 51,027,365	A121D	probably damaging	Het
Olfr877	A	T	9: 37,855,360	I181L	probably benign	Het
Pi4ka	A	T	16: 17,325,429	Y6N	probably damaging	Het
Polr2g	C	A	19: 8,798,456		probably null	Het
Psme3	A	G	11: 101,317,654	Q82R	probably benign	Het
Rab11a	G	T	9: 64,726,647	T17K	possibly damaging	Het
Rbm12	A	T	2: 156,098,097	L85Q	probably damaging	Het
Skap1	A	T	11: 96,708,686	Y188F	probably damaging	Het
Tmprss6	A	T	15: 78,442,336	F34I	probably damaging	Het
Trip12	A	C	1: 84,794,133	I98S	probably benign	Het
Ttn	T	C	2: 76,878,188		probably benign	Het
Ube2t	A	T	1: 134,971,341	K21*	probably null	Het
Vmn1r216	T	C	13: 23,099,477	V110A	possibly damaging	Het
Vmn2r109	A	T	17: 20,540,888	F736I	probably benign	Het
Vps13c	A	G	9: 67,937,876	T2081A	probably benign	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het

Other mutations in Bms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Bms1	APN	6	118404583	missense	probably benign	0.01
IGL00763:Bms1	APN	6	118418402	splice site	probably benign
IGL00839:Bms1	APN	6	118405291	missense	probably benign	0.30
IGL02005:Bms1	APN	6	118404585	missense	probably damaging	1.00
IGL02271:Bms1	APN	6	118389329	missense	probably benign	0.10
IGL02403:Bms1	APN	6	118405224	missense	possibly damaging	0.89
IGL03230:Bms1	APN	6	118418561	missense	possibly damaging	0.88
IGL03277:Bms1	APN	6	118405122	missense	probably benign
PIT4508001:Bms1	UTSW	6	118383806	missense	probably benign	0.03
R0028:Bms1	UTSW	6	118416519	missense	probably benign	0.00
R0056:Bms1	UTSW	6	118405229	missense	probably benign	0.00
R0056:Bms1	UTSW	6	118405229	missense	probably benign	0.00
R0276:Bms1	UTSW	6	118408134	missense	possibly damaging	0.87
R0295:Bms1	UTSW	6	118389337	missense	probably benign	0.04
R0360:Bms1	UTSW	6	118405290	missense	probably benign	0.13
R0556:Bms1	UTSW	6	118413179	missense	probably damaging	1.00
R1078:Bms1	UTSW	6	118405221	missense	probably benign	0.00
R1583:Bms1	UTSW	6	118389389	splice site	probably benign
R1815:Bms1	UTSW	6	118383781	missense	probably damaging	1.00
R1957:Bms1	UTSW	6	118392978	missense	probably damaging	0.98
R2045:Bms1	UTSW	6	118392627	missense	probably damaging	1.00
R2511:Bms1	UTSW	6	118391153	splice site	probably null
R4293:Bms1	UTSW	6	118405347	splice site	probably null
R4296:Bms1	UTSW	6	118404999	missense	probably damaging	0.96
R4467:Bms1	UTSW	6	118383847	missense	probably damaging	0.99
R4688:Bms1	UTSW	6	118392706	missense	probably damaging	1.00
R4718:Bms1	UTSW	6	118403235	missense	possibly damaging	0.91
R5015:Bms1	UTSW	6	118404263	nonsense	probably null
R5327:Bms1	UTSW	6	118405218	missense	possibly damaging	0.53
R5489:Bms1	UTSW	6	118413745	missense	possibly damaging	0.64
R5511:Bms1	UTSW	6	118388887	missense	possibly damaging	0.85
R5636:Bms1	UTSW	6	118388825	missense	probably benign	0.00
R5815:Bms1	UTSW	6	118404279	missense	probably damaging	1.00
R6245:Bms1	UTSW	6	118396836	missense	probably damaging	0.96
R6299:Bms1	UTSW	6	118418515	missense	probably damaging	0.98
R6389:Bms1	UTSW	6	118403235	missense	possibly damaging	0.91
R6838:Bms1	UTSW	6	118416494	missense	probably benign	0.00
R7129:Bms1	UTSW	6	118403161	nonsense	probably null
R7414:Bms1	UTSW	6	118383745	missense	possibly damaging	0.93
R7811:Bms1	UTSW	6	118403138	missense	probably damaging	0.99
R7883:Bms1	UTSW	6	118388774	missense	probably benign	0.04
R8046:Bms1	UTSW	6	118408144	missense	probably benign
R8068:Bms1	UTSW	6	118413750	missense	probably damaging	1.00
R8098:Bms1	UTSW	6	118384258	missense	probably damaging	0.98
R8176:Bms1	UTSW	6	118418450	missense	probably damaging	1.00
R8424:Bms1	UTSW	6	118388760	missense	probably benign	0.24
R8728:Bms1	UTSW	6	118392370	missense	possibly damaging	0.93
R8793:Bms1	UTSW	6	118383823	missense	probably damaging	1.00
R8970:Bms1	UTSW	6	118392331	missense	possibly damaging	0.92
R9234:Bms1	UTSW	6	118398083	missense	probably damaging	0.96
R9440:Bms1	UTSW	6	118405256	missense	probably benign
R9701:Bms1	UTSW	6	118391186	missense	probably damaging	0.98
R9802:Bms1	UTSW	6	118391186	missense	probably damaging	0.98
X0067:Bms1	UTSW	6	118404834	missense	probably benign	0.26

Posted On

2015-04-16