Mutagenetix > Incidental Mutation

Incidental Mutation 'R6757:Bmi1'

531083

Institutional Source

Beutler Lab

Gene Symbol

Bmi1

Ensembl Gene

ENSMUSG00000026739

Gene Name

Bmi1 polycomb ring finger oncogene

Synonyms

Pcgf4, Bmi-1, Bmi1

MMRRC Submission

044873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R6757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18681953-18691440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18688840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 203 (T203M)

Ref Sequence

ENSEMBL: ENSMUSP00000110300 (fasta)

Gene Model

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

AlphaFold

P25916

PDB Structure

RING1B-BMI1 E3 CATALYTIC DOMAIN STRUCTURE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028071
AA Change: T203M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: T203M

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 damaging
Transcript: ENSMUST00000051929
AA Change: T203M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: T203M

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 benign
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 benign
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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,666,558 (GRCm39)	*288Y	probably null	Het
Art2a	G	T	7: 101,204,221 (GRCm39)	L106I	probably benign	Het
Cpm	A	G	10: 117,507,543 (GRCm39)	D220G	probably damaging	Het
Cyp2a22	A	C	7: 26,638,629 (GRCm39)	D52E	probably benign	Het
Dag1	A	C	9: 108,095,216 (GRCm39)	I92S	probably damaging	Het
Dntt	A	T	19: 41,025,601 (GRCm39)	H73L	probably damaging	Het
Epha5	A	C	5: 84,253,737 (GRCm39)	I716S	probably damaging	Het
Fpr-rs4	C	T	17: 18,242,394 (GRCm39)	Q134*	probably null	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Garre1	G	A	7: 33,938,502 (GRCm39)	A799V	possibly damaging	Het
Gnptab	T	C	10: 88,273,364 (GRCm39)	L1047P	probably damaging	Het
Gstt1	A	T	10: 75,634,217 (GRCm39)		probably null	Het
Kdm2a	T	C	19: 4,369,271 (GRCm39)	R1115G	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo1b	C	T	1: 51,852,207 (GRCm39)	E179K	probably damaging	Het
Nrp1	T	A	8: 129,152,349 (GRCm39)	I186N	probably damaging	Het
Or10g3	A	G	14: 52,610,172 (GRCm39)	C113R	probably damaging	Het
Pole	T	C	5: 110,451,476 (GRCm39)	V835A	probably damaging	Het
Shprh	A	G	10: 11,057,252 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,548,333 (GRCm39)	L238Q	probably damaging	Het
Spata31e5	A	C	1: 28,819,191 (GRCm39)	I30S	probably damaging	Het
Usp40	A	T	1: 87,907,759 (GRCm39)	I619N	probably damaging	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
R0142:Bmi1	UTSW	2	18,688,095 (GRCm39)	critical splice donor site	probably null
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
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'- GGTACCTACCTCATGCATTTTGTG -3'
(R):5'- TTGCAAGTTGGCCGAACTC -3'

Sequencing Primer
(F):5'- TTGGTAGCAAAGTTTAAGATACCTC -3'
(R):5'- GGCCGAACTCTGTATTTCAAAGG -3'

Posted On

2018-08-01