Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Bms1'

37677

Institutional Source

Beutler Lab

Gene Symbol

Bms1

Ensembl Gene

ENSMUSG00000030138

Gene Name

BMS1, ribosome biogenesis factor

Synonyms

Bms1l

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0295 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

118383381-118419474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118389337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1065 (I1065T)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

probably benign
Transcript: ENSMUST00000032237
AA Change: I1065T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: I1065T

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

0.5404

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,282,594	I173N	probably damaging	Het
2610028H24Rik	G	A	10: 76,454,808	S127N	probably damaging	Het
Abcc8	T	C	7: 46,118,054	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,548,005		probably null	Het
Adh4	A	G	3: 138,429,076	D337G	probably damaging	Het
Apob	T	A	12: 8,002,181	Y1207*	probably null	Het
Birc6	T	C	17: 74,613,362		probably benign	Het
Cacna1i	T	A	15: 80,356,211	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,356,870	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,173,789	K586N	probably damaging	Het
Cep290	A	C	10: 100,537,821	E1321A	probably damaging	Het
Ctc1	A	G	11: 69,030,588	K682E	possibly damaging	Het
Cux1	A	C	5: 136,313,212	V442G	probably benign	Het
Dph2	A	T	4: 117,890,930	V150E	possibly damaging	Het
Etv6	A	G	6: 134,266,275	D331G	probably benign	Het
Fbxo42	A	G	4: 141,200,497	D696G	probably damaging	Het
Fbxo8	G	A	8: 56,590,074	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840	T73A	possibly damaging	Het
H2afj	C	G	6: 136,808,604	R89G	probably damaging	Het
Ifng	G	T	10: 118,441,249	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,709,477		probably null	Het
Knl1	A	C	2: 119,088,839	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,701,108	Y108*	probably null	Het
Lcp1	A	G	14: 75,199,420	I69V	probably null	Het
Lrp6	A	T	6: 134,457,693	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,565,849	E1009D	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Med14	G	C	X: 12,685,748	R1223G	probably damaging	Het
Mesd	C	T	7: 83,897,865	Q179*	probably null	Het
Myh7	A	G	14: 54,984,821		probably benign	Het
Myo6	T	C	9: 80,283,579	I804T	probably damaging	Het
Neb	T	C	2: 52,284,285	I1521V	possibly damaging	Het
Nosip	T	A	7: 45,076,916	I249N	probably damaging	Het
Nostrin	A	C	2: 69,179,416	E296A	probably benign	Het
Olfr1280	T	A	2: 111,316,154	V225D	probably damaging	Het
Olfr136	A	T	17: 38,335,291	I45F	probably damaging	Het
Olfr491	T	G	7: 108,317,685	S264A	probably benign	Het
Olfr624	T	C	7: 103,670,311	H240R	probably damaging	Het
Oprk1	T	C	1: 5,598,850	L173S	possibly damaging	Het
Pdzd7	A	G	19: 45,037,072	V328A	probably benign	Het
Podxl2	A	T	6: 88,849,678	S215R	probably benign	Het
Prss36	T	G	7: 127,935,855	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,823,985		probably benign	Het
Rasa2	T	C	9: 96,545,810		probably null	Het
Rgs1	A	T	1: 144,245,486	I149N	probably damaging	Het
Rgs16	A	G	1: 153,743,737	E163G	probably damaging	Het
Rnf121	A	G	7: 102,035,346	F120S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slfn8	A	T	11: 83,003,343	Y823*	probably null	Het
Spdl1	A	T	11: 34,813,343	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,356,203		probably benign	Het
Tet3	G	A	6: 83,369,139	P1304S	probably benign	Het
Timm29	T	C	9: 21,593,076		probably null	Het
Tpcn1	T	A	5: 120,539,060	I687F	probably damaging	Het
Trim46	A	G	3: 89,245,113		probably benign	Het
Ttc23	T	A	7: 67,669,852		probably benign	Het
Ttll6	G	T	11: 96,154,714	V586L	probably benign	Het
Ttn	A	T	2: 76,758,611		probably benign	Het
Uba3	A	T	6: 97,191,583	H160Q	possibly damaging	Het
Usp32	A	G	11: 85,053,692	S316P	probably damaging	Het
Vcan	T	C	13: 89,712,191	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,817,472	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,307,616	S138P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CGGCCTTCTGAAAACCCACTCTAAT -3'
(R):5'- GGCCACTTCACACCTGTAAATCCCT -3'

Sequencing Primer
(F):5'- TCTAATCAGCAGCAGCTAGACTC -3'
(R):5'- CCAGTAATTAGCCTACTGATGAGC -3'

Posted On

2013-05-23