Mutagenetix > Incidental Mutation

Incidental Mutation 'R7414:Bms1'

575293

Institutional Source

Beutler Lab

Gene Symbol

Bms1

Ensembl Gene

ENSMUSG00000030138

Gene Name

BMS1, ribosome biogenesis factor

Synonyms

Bms1l

MMRRC Submission

045494-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118360342-118396435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118360706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1254 (R1254Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032237
AA Change: R1254Q

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: R1254Q

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: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,779 (GRCm39)	T90M	probably damaging	Het
Abca4	T	A	3: 121,896,387 (GRCm39)	S540T	probably benign	Het
Adcy4	G	A	14: 56,019,090 (GRCm39)	L156F	probably benign	Het
Adcyap1	T	A	17: 93,510,256 (GRCm39)	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,611,670 (GRCm39)	T567A	probably benign	Het
Ankrd26	T	C	6: 118,485,741 (GRCm39)	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,706,539 (GRCm39)	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,001,307 (GRCm39)	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,459,193 (GRCm39)	D1126G	possibly damaging	Het
Bap1	G	C	14: 30,975,572 (GRCm39)	G139R	probably benign	Het
Ceacam15	A	G	7: 16,407,235 (GRCm39)	V94A	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cip2a	T	C	16: 48,821,998 (GRCm39)	F209L	probably benign	Het
Clec2m	T	C	6: 129,302,596 (GRCm39)	T144A	probably benign	Het
Clock	T	C	5: 76,410,611 (GRCm39)	T87A	probably benign	Het
Cntrl	A	T	2: 35,055,479 (GRCm39)	I1706L	probably benign	Het
Cr2	C	A	1: 194,832,344 (GRCm39)	V981L	probably benign	Het
Cxcr6	G	A	9: 123,639,287 (GRCm39)	W103*	probably null	Het
Dld	A	T	12: 31,385,525 (GRCm39)	F272Y	probably damaging	Het
Dmrt2	T	A	19: 25,650,950 (GRCm39)	D45E	probably benign	Het
Eif2a	T	A	3: 58,433,502 (GRCm39)	L8*	probably null	Het
Epg5	G	T	18: 78,026,747 (GRCm39)	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,664,153 (GRCm39)	C350*	probably null	Het
Fam135b	C	T	15: 71,350,105 (GRCm39)	R345Q	probably damaging	Het
Fbn2	C	T	18: 58,229,122 (GRCm39)	R696H	probably damaging	Het
Gbf1	C	A	19: 46,271,797 (GRCm39)	Y159*	probably null	Het
Gcsam	T	C	16: 45,437,301 (GRCm39)		probably null	Het
Gmpr2	G	T	14: 55,910,259 (GRCm39)		probably null	Het
H2-T3	C	A	17: 36,498,275 (GRCm39)	V257L	not run	Het
Hadha	A	G	5: 30,331,610 (GRCm39)	F449L	possibly damaging	Het
Haus3	T	A	5: 34,323,477 (GRCm39)	I378L	probably benign	Het
Hdac7	T	A	15: 97,706,392 (GRCm39)	H272L	probably benign	Het
Icam5	T	C	9: 20,948,889 (GRCm39)	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,467,370 (GRCm39)	V81M	possibly damaging	Het
Insyn2a	G	T	7: 134,519,738 (GRCm39)	A264D	probably benign	Het
Ipcef1	G	T	10: 6,840,673 (GRCm39)	C345*	probably null	Het
Ipmk	T	A	10: 71,217,124 (GRCm39)	F223I	probably damaging	Het
Itpr2	A	T	6: 146,274,706 (GRCm39)	N825K	probably benign	Het
Itprid2	A	G	2: 79,475,072 (GRCm39)	K344E	possibly damaging	Het
Kazn	G	A	4: 141,836,649 (GRCm39)	T530I		Het
Kmt2d	C	T	15: 98,737,737 (GRCm39)	V5120M	unknown	Het
Krt6b	T	G	15: 101,587,449 (GRCm39)	D215A	probably benign	Het
Lgals12	T	C	19: 7,581,335 (GRCm39)	K124R	probably damaging	Het
Lpar6	T	A	14: 73,476,240 (GRCm39)	V67D	probably damaging	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,149,201 (GRCm39)	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,871,991 (GRCm39)	H161Q	probably benign	Het
Map3k19	A	G	1: 127,766,189 (GRCm39)	I245T	probably damaging	Het
Mcf2l	T	A	8: 13,069,022 (GRCm39)	*1119K	probably null	Het
Mertk	C	A	2: 128,571,313 (GRCm39)	A89E	possibly damaging	Het
Mical3	A	T	6: 121,011,074 (GRCm39)	Y375N	probably damaging	Het
Myo15a	T	A	11: 60,374,309 (GRCm39)	D121E		Het
N4bp2l1	T	A	5: 150,499,758 (GRCm39)	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,233,756 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,289,977 (GRCm39)	D178E	probably benign	Het
Nt5c2	C	A	19: 46,878,328 (GRCm39)	G444C	probably damaging	Het
Or10g7	T	A	9: 39,905,349 (GRCm39)	M81K	possibly damaging	Het
Or2f1b	T	A	6: 42,739,762 (GRCm39)	Y259N	probably damaging	Het
Or8b48	T	C	9: 38,492,764 (GRCm39)	F64L	probably benign	Het
Pdcl2	A	C	5: 76,460,359 (GRCm39)	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,468,247 (GRCm39)	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,866,267 (GRCm39)	N979K		Het
Prkcb	A	T	7: 122,167,450 (GRCm39)	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,821,135 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 109,913,271 (GRCm39)	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,313,643 (GRCm39)	T455P		Het
Sec24b	C	A	3: 129,803,514 (GRCm39)	V412F	probably benign	Het
Serpina3b	A	G	12: 104,099,145 (GRCm39)	N220S	probably benign	Het
Sgip1	C	T	4: 102,824,821 (GRCm39)	Q581*	probably null	Het
Shf	A	T	2: 122,190,063 (GRCm39)	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,017,992 (GRCm39)	T14M	probably benign	Het
Slc22a4	A	T	11: 53,888,254 (GRCm39)	M258K	probably benign	Het
Slfn8	A	T	11: 82,907,618 (GRCm39)	Y308*	probably null	Het
Slfnl1	T	C	4: 120,392,451 (GRCm39)	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,782,074 (GRCm39)	Y29C	probably damaging	Het
Snai1	C	A	2: 167,380,588 (GRCm39)		probably null	Het
Sntg1	T	C	1: 8,518,289 (GRCm39)	Y368C	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spop	G	A	11: 95,365,334 (GRCm39)	V126M	probably damaging	Het
Taar3	A	T	10: 23,825,715 (GRCm39)	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,545,318 (GRCm39)	M177I	probably benign	Het
Tcerg1l	A	G	7: 137,819,786 (GRCm39)	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,556,717 (GRCm39)	I435F	probably damaging	Het
Tiam2	A	G	17: 3,464,388 (GRCm39)	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,501,128 (GRCm39)	V15A	probably benign	Het
Tll2	T	C	19: 41,092,268 (GRCm39)	D523G	probably damaging	Het
Tmem117	A	G	15: 94,612,776 (GRCm39)	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,864,555 (GRCm39)	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,168,642 (GRCm39)	V132D	probably damaging	Het
Tomt	T	A	7: 101,549,715 (GRCm39)	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,160,459 (GRCm39)	M373V	probably damaging	Het
Ttn	G	A	2: 76,568,493 (GRCm39)	P27467S	possibly damaging	Het
Ttn	A	C	2: 76,573,130 (GRCm39)	V25921G	probably damaging	Het
Ubxn2a	A	C	12: 4,941,381 (GRCm39)	V75G	probably damaging	Het
Uchl5	A	T	1: 143,682,433 (GRCm39)	K319N	unknown	Het
Ugt2b1	T	C	5: 87,073,693 (GRCm39)	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,195,446 (GRCm39)	I10V	unknown	Het
Vps13b	T	C	15: 35,910,973 (GRCm39)	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,532,295 (GRCm39)	H443Q	probably benign	Het
Zfp316	A	G	5: 143,250,407 (GRCm39)	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,251,359 (GRCm39)	T160A	possibly damaging	Het

Other mutations in Bms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Bms1	APN	6	118,381,544 (GRCm39)	missense	probably benign	0.01
IGL00763:Bms1	APN	6	118,395,363 (GRCm39)	splice site	probably benign
IGL00839:Bms1	APN	6	118,382,252 (GRCm39)	missense	probably benign	0.30
IGL02005:Bms1	APN	6	118,381,546 (GRCm39)	missense	probably damaging	1.00
IGL02271:Bms1	APN	6	118,366,290 (GRCm39)	missense	probably benign	0.10
IGL02403:Bms1	APN	6	118,382,185 (GRCm39)	missense	possibly damaging	0.89
IGL02474:Bms1	APN	6	118,393,480 (GRCm39)	missense	probably benign	0.00
IGL03230:Bms1	APN	6	118,395,522 (GRCm39)	missense	possibly damaging	0.88
IGL03277:Bms1	APN	6	118,382,083 (GRCm39)	missense	probably benign
PIT4508001:Bms1	UTSW	6	118,360,767 (GRCm39)	missense	probably benign	0.03
R0028:Bms1	UTSW	6	118,393,480 (GRCm39)	missense	probably benign	0.00
R0056:Bms1	UTSW	6	118,382,190 (GRCm39)	missense	probably benign	0.00
R0056:Bms1	UTSW	6	118,382,190 (GRCm39)	missense	probably benign	0.00
R0276:Bms1	UTSW	6	118,385,095 (GRCm39)	missense	possibly damaging	0.87
R0295:Bms1	UTSW	6	118,366,298 (GRCm39)	missense	probably benign	0.04
R0360:Bms1	UTSW	6	118,382,251 (GRCm39)	missense	probably benign	0.13
R0556:Bms1	UTSW	6	118,390,140 (GRCm39)	missense	probably damaging	1.00
R1078:Bms1	UTSW	6	118,382,182 (GRCm39)	missense	probably benign	0.00
R1583:Bms1	UTSW	6	118,366,350 (GRCm39)	splice site	probably benign
R1815:Bms1	UTSW	6	118,360,742 (GRCm39)	missense	probably damaging	1.00
R1957:Bms1	UTSW	6	118,369,939 (GRCm39)	missense	probably damaging	0.98
R2045:Bms1	UTSW	6	118,369,588 (GRCm39)	missense	probably damaging	1.00
R2511:Bms1	UTSW	6	118,368,114 (GRCm39)	splice site	probably null
R4293:Bms1	UTSW	6	118,382,308 (GRCm39)	splice site	probably null
R4296:Bms1	UTSW	6	118,381,960 (GRCm39)	missense	probably damaging	0.96
R4467:Bms1	UTSW	6	118,360,808 (GRCm39)	missense	probably damaging	0.99
R4688:Bms1	UTSW	6	118,369,667 (GRCm39)	missense	probably damaging	1.00
R4718:Bms1	UTSW	6	118,380,196 (GRCm39)	missense	possibly damaging	0.91
R5015:Bms1	UTSW	6	118,381,224 (GRCm39)	nonsense	probably null
R5327:Bms1	UTSW	6	118,382,179 (GRCm39)	missense	possibly damaging	0.53
R5489:Bms1	UTSW	6	118,390,706 (GRCm39)	missense	possibly damaging	0.64
R5511:Bms1	UTSW	6	118,365,848 (GRCm39)	missense	possibly damaging	0.85
R5636:Bms1	UTSW	6	118,365,786 (GRCm39)	missense	probably benign	0.00
R5815:Bms1	UTSW	6	118,381,240 (GRCm39)	missense	probably damaging	1.00
R6245:Bms1	UTSW	6	118,373,797 (GRCm39)	missense	probably damaging	0.96
R6299:Bms1	UTSW	6	118,395,476 (GRCm39)	missense	probably damaging	0.98
R6389:Bms1	UTSW	6	118,380,196 (GRCm39)	missense	possibly damaging	0.91
R6838:Bms1	UTSW	6	118,393,455 (GRCm39)	missense	probably benign	0.00
R7129:Bms1	UTSW	6	118,380,122 (GRCm39)	nonsense	probably null
R7811:Bms1	UTSW	6	118,380,099 (GRCm39)	missense	probably damaging	0.99
R7883:Bms1	UTSW	6	118,365,735 (GRCm39)	missense	probably benign	0.04
R8046:Bms1	UTSW	6	118,385,105 (GRCm39)	missense	probably benign
R8068:Bms1	UTSW	6	118,390,711 (GRCm39)	missense	probably damaging	1.00
R8098:Bms1	UTSW	6	118,361,219 (GRCm39)	missense	probably damaging	0.98
R8176:Bms1	UTSW	6	118,395,411 (GRCm39)	missense	probably damaging	1.00
R8424:Bms1	UTSW	6	118,365,721 (GRCm39)	missense	probably benign	0.24
R8728:Bms1	UTSW	6	118,369,331 (GRCm39)	missense	possibly damaging	0.93
R8793:Bms1	UTSW	6	118,360,784 (GRCm39)	missense	probably damaging	1.00
R8970:Bms1	UTSW	6	118,369,292 (GRCm39)	missense	possibly damaging	0.92
R9234:Bms1	UTSW	6	118,375,044 (GRCm39)	missense	probably damaging	0.96
R9440:Bms1	UTSW	6	118,382,217 (GRCm39)	missense	probably benign
R9701:Bms1	UTSW	6	118,368,147 (GRCm39)	missense	probably damaging	0.98
R9802:Bms1	UTSW	6	118,368,147 (GRCm39)	missense	probably damaging	0.98
X0067:Bms1	UTSW	6	118,381,795 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- AGGCTTTCTACAGTTCCTCCAG -3'
(R):5'- TAGTGAAGTCCTGACTAGGCG -3'

Sequencing Primer
(F):5'- TACAGTTCCTCCAGGCACG -3'
(R):5'- CGACAGGCAGGCTTAGACTG -3'

Posted On

2019-10-07