Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Bms1'

713589

Institutional Source

Beutler Lab

Gene Symbol

Bms1

Ensembl Gene

ENSMUSG00000030138

Gene Name

BMS1, ribosome biogenesis factor

Synonyms

Bms1l

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118383381-118419474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118405256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 440 (D440E)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000032237
AA Change: D440E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: D440E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly damaging	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
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
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'- CCTCAAGCTTTGGTCGTTTG -3'
(R):5'- AAACTCTGATTCCAGTCCTTTTCAG -3'

Sequencing Primer
(F):5'- GCGTCCCCTACCCATCATGTAG -3'
(R):5'- GACAGGGTCTCACTAAGTTACTG -3'

Posted On

2022-06-15