Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Bms1'

85728

Institutional Source

Beutler Lab

Gene Symbol

Bms1

Ensembl Gene

ENSMUSG00000030138

Gene Name

BMS1, ribosome biogenesis factor

Synonyms

Bms1l

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118383381-118419474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118405221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 452 (D452G)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000032237
AA Change: D452G

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

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: D452G

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: ENSMUST00000205207

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCCAACAGAGCCGCATTCC -3'
(R):5'- TGCATAGTGGACTGGCATTAGCTTC -3'

Sequencing Primer
(F):5'- TCAAGGTCATCATCGCTATCAG -3'
(R):5'- GGCATTAGCTTCTTACTGCACAG -3'

Posted On

2013-11-18