Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Bmi1'

22354

Institutional Source

Beutler Lab

Gene Symbol

Bmi1

Ensembl Gene

ENSMUSG00000026739

Gene Name

Bmi1 polycomb ring finger oncogene

Synonyms

Pcgf4, Bmi-1, Bmi1

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R0142 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

18681953-18691440 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 18688095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000051929] [ENSMUST00000134734] [ENSMUST00000147365] [ENSMUST00000150834] [ENSMUST00000156284]

AlphaFold

P25916

Predicted Effect

probably null
Transcript: ENSMUST00000028071

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART
low complexity region	146	159	N/A	INTRINSIC
low complexity region	264	276	N/A	INTRINSIC
low complexity region	313	323	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000051929

SMART Domains

Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART
Pfam:RAWUL	142	224	1.5e-27	PFAM
low complexity region	264	276	N/A	INTRINSIC
low complexity region	313	323	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132014

Predicted Effect

probably benign
Transcript: ENSMUST00000134734

SMART Domains

Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147365

SMART Domains

Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150834

SMART Domains

Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART
low complexity region	146	159	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156284

SMART Domains

Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART
low complexity region	146	159	N/A	INTRINSIC

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants display decreased hematopoietic cell number, immune deficiency, neurological abnormalities, and posterior transformation, while transgenic overexpressing mice show an opposite dose-dependent anterior transformation of vertebral identity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,914,506 (GRCm39)	F41V	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
C2	T	A	17: 35,092,504 (GRCm39)	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Emilin1	A	G	5: 31,071,264 (GRCm39)	T16A	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Jph4	G	T	14: 55,345,783 (GRCm39)	Q625K	probably benign	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,724,925 (GRCm39)	V205A	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	Het

Other mutations in Bmi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:Bmi1	APN	2	18,688,488 (GRCm39)	missense	probably damaging	1.00
IGL02270:Bmi1	APN	2	18,689,269 (GRCm39)	missense	probably benign	0.00
IGL02801:Bmi1	APN	2	18,686,692 (GRCm39)	missense	probably damaging	1.00
IGL03265:Bmi1	APN	2	18,686,672 (GRCm39)	missense	possibly damaging	0.53
PIT4280001:Bmi1	UTSW	2	18,687,820 (GRCm39)	nonsense	probably null
PIT4434001:Bmi1	UTSW	2	18,689,042 (GRCm39)	missense	probably benign	0.10
R0411:Bmi1	UTSW	2	18,687,983 (GRCm39)	splice site	probably benign
R0504:Bmi1	UTSW	2	18,688,883 (GRCm39)	splice site	probably null
R1926:Bmi1	UTSW	2	18,687,084 (GRCm39)	missense	probably benign	0.02
R2070:Bmi1	UTSW	2	18,688,851 (GRCm39)	missense	probably benign	0.01
R2238:Bmi1	UTSW	2	18,688,225 (GRCm39)	splice site	probably benign
R2412:Bmi1	UTSW	2	18,688,525 (GRCm39)	missense	probably damaging	1.00
R4915:Bmi1	UTSW	2	18,687,143 (GRCm39)	splice site	probably benign
R5514:Bmi1	UTSW	2	18,686,714 (GRCm39)	missense	probably damaging	0.98
R6222:Bmi1	UTSW	2	18,688,513 (GRCm39)	missense	possibly damaging	0.88
R6320:Bmi1	UTSW	2	18,689,186 (GRCm39)	missense	probably benign	0.00
R6456:Bmi1	UTSW	2	18,687,058 (GRCm39)	missense	probably damaging	1.00
R6757:Bmi1	UTSW	2	18,688,840 (GRCm39)	missense	probably damaging	1.00
R7310:Bmi1	UTSW	2	18,689,230 (GRCm39)	missense	probably benign
R8412:Bmi1	UTSW	2	18,689,114 (GRCm39)	missense	probably damaging	1.00
R9211:Bmi1	UTSW	2	18,689,152 (GRCm39)	missense	probably benign	0.02
X0063:Bmi1	UTSW	2	18,687,034 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTATGCAGCTCACCCGTCAGC -3'
(R):5'- TTCTCAAGTGCATCACAGTCATTGCT -3'

Sequencing Primer
(F):5'- GGGGCAAAAGACATTTTATGTCAG -3'
(R):5'- TGCTGGGCATCGTAAGTACC -3'

Posted On

2013-04-16