Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Bms1'

202621

Institutional Source

Beutler Lab

Gene Symbol

Bms1

Ensembl Gene

ENSMUSG00000030138

Gene Name

BMS1, ribosome biogenesis factor

Synonyms

Bms1l

MMRRC Submission

039843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1815 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

118360342-118396435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118360742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1242 (K1242M)

Ref Sequence

ENSEMBL: ENSMUSP00000032237 (fasta)

Gene Model

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

AlphaFold

Q6PGF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032237
AA Change: K1242M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032237
Gene: ENSMUSG00000030138
AA Change: K1242M

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: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	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
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
R7414:Bms1	UTSW	6	118,360,706 (GRCm39)	missense	possibly damaging	0.93
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'- TCTACAGTTCCTCCAGGCAC -3'
(R):5'- GCCAGTGTAGTGAAGTCCTG -3'

Sequencing Primer
(F):5'- GTCATGACTTGTCACAAGCACTG -3'
(R):5'- CCAGTGTAGTGAAGTCCTGACTAG -3'

Posted On

2014-06-23