Mutagenetix > Incidental Mutation

Incidental Mutation 'R4467:Bms1'

329237

Institutional Source

Beutler Lab

Gene Symbol

Bms1

Ensembl Gene

ENSMUSG00000030138

Gene Name

BMS1, ribosome biogenesis factor

Synonyms

Bms1l

MMRRC Submission

041724-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118383381-118419474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118383847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1220 (T1220I)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032237
AA Change: T1220I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: T1220I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
4930402H24Rik	A	G	2: 130,767,647	I372T	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,855	Y57H	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Brat1	T	C	5: 140,705,071		probably benign	Het
Casc1	A	T	6: 145,183,218		probably null	Het
Cds2	T	A	2: 132,294,446	Y39*	probably null	Het
Chrnd	T	A	1: 87,197,377	L384Q	probably damaging	Het
Cpa3	A	T	3: 20,228,817	Y155*	probably null	Het
Crlf1	G	A	8: 70,500,956	W260*	probably null	Het
Cux1	C	G	5: 136,312,722	E605D	probably damaging	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Dmtf1	T	C	5: 9,136,085	N167S	probably damaging	Het
Dtx2	T	A	5: 136,012,076	W112R	probably damaging	Het
Elf3	A	G	1: 135,256,844	I138T	probably damaging	Het
F11	T	A	8: 45,241,474	I617F	probably damaging	Het
Fdps	A	T	3: 89,100,786	D8E	possibly damaging	Het
Fzd10	C	A	5: 128,601,276	T20K	probably benign	Het
Gm9978	T	A	10: 78,486,916		noncoding transcript	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Has1	C	T	17: 17,843,995	V461M	probably benign	Het
Hdac3	C	T	18: 37,952,513	G80D	probably benign	Het
Klk12	A	T	7: 43,773,383	R245W	probably damaging	Het
Lamp5	A	G	2: 136,059,020	I47V	probably damaging	Het
Olfr786	T	C	10: 129,437,064	I84T	probably benign	Het
Ovgp1	A	G	3: 105,977,711	D122G	probably benign	Het
Piezo1	T	C	8: 122,486,396	E1875G	probably benign	Het
Pih1d1	A	G	7: 45,158,497	M132V	possibly damaging	Het
Pon2	C	T	6: 5,267,021	A241T	probably benign	Het
Prkce	A	G	17: 86,619,911	I538V	possibly damaging	Het
Rab36	C	T	10: 75,052,043	R249*	probably null	Het
Rps6kl1	C	T	12: 85,147,808	A110T	probably damaging	Het
Rsad1	T	C	11: 94,544,530	T244A	probably benign	Het
Slc22a7	T	C	17: 46,432,510	I532V	probably benign	Het
Slc2a7	T	C	4: 150,163,274	V377A	possibly damaging	Het
Slx4	A	G	16: 3,989,055	V508A	possibly damaging	Het
Stag2	A	G	X: 42,233,872	S400G	probably benign	Het
Stat6	T	G	10: 127,651,228	I201M	probably damaging	Het
Stim2	T	C	5: 54,116,194		probably null	Het
Tbc1d9	A	G	8: 83,210,478	Y63C	probably damaging	Het
Tctn2	T	C	5: 124,620,189		noncoding transcript	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Ubr5	T	A	15: 38,004,336	T1282S	probably damaging	Het
Ufl1	A	T	4: 25,254,806	I550N	probably damaging	Het
Uty	A	G	Y: 1,158,372	V557A	possibly damaging	Het
Vmn1r54	T	C	6: 90,269,271	S56P	probably damaging	Het
Zfp980	G	A	4: 145,702,083	G461S	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
IGL02474:Bms1	APN	6	118416519	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGACTAGACTTCTGACTTCG -3'
(R):5'- GTGGACCGCTTAGCTAGTTG -3'

Sequencing Primer
(F):5'- AGACTAGACTTCTGACTTCGTTTTTC -3'
(R):5'- GGTAAATGCATACATACCTACATGC -3'

Posted On

2015-07-21