Mutagenetix > Incidental Mutations

Incidental Mutation 'R8412:Bmi1'

652718

Institutional Source

Beutler Lab

Gene Symbol

Bmi1

Ensembl Gene

ENSMUSG00000026739

Gene Name

Bmi1 polycomb ring finger oncogene

Synonyms

Bmi1, Bmi-1, Pcgf4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18677018-18686629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18684303 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 266 (T266I)

Ref Sequence

ENSEMBL: ENSMUSP00000028071 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028071
AA Change: T266I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: T266I

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: T266I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: T266I

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 184,033,159	R234S	probably damaging	Het
Ace	T	A	11: 105,979,266	F806Y	probably benign	Het
Ak8	A	G	2: 28,739,631	T286A	probably benign	Het
Apba2	T	A	7: 64,745,798	F674Y	probably damaging	Het
Apob	A	G	12: 8,008,069	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,466,028	P884L	probably benign	Het
Atg2a	T	C	19: 6,244,524	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,662,312	I334F	possibly damaging	Het
Cdh26	A	G	2: 178,462,724	I301V	probably damaging	Het
Cenpx	A	T	11: 120,711,732	H68Q	unknown	Het
Cnot10	T	C	9: 114,610,670	R524G	probably benign	Het
Cnpy1	A	T	5: 28,209,208	Y22*	probably null	Het
Csmd3	C	T	15: 47,636,398	R2114H		Het
Defa29	T	A	8: 21,326,046	T102S	probably benign	Het
Fras1	T	C	5: 96,596,852	I582T	probably benign	Het
Gm14295	G	A	2: 176,809,629	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,443,839	V141A	possibly damaging	Het
Ifi47	A	C	11: 49,095,598	Q64P	probably damaging	Het
Irx3	G	T	8: 91,800,400	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,363,620	H289R	probably benign	Het
Lamc3	A	G	2: 31,912,116	D512G	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Med23	C	A	10: 24,908,734	F1200L	probably benign	Het
Ndst4	A	T	3: 125,570,790	D372V	possibly damaging	Het
Nob1	T	A	8: 107,421,598	K71*	probably null	Het
Ntrk3	A	G	7: 78,356,149	I488T	probably benign	Het
Pds5b	G	T	5: 150,719,959	C82F	probably damaging	Het
Pkd1l3	T	A	8: 109,633,390	V969E	possibly damaging	Het
Ppme1	A	T	7: 100,335,091	N307K	probably benign	Het
Pus7l	C	T	15: 94,527,975	C515Y	probably benign	Het
Rpp21	T	A	17: 36,257,699	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,181,218	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,712,954	K52*	probably null	Het
Slc12a3	T	C	8: 94,334,067	I261T	probably damaging	Het
Slc19a3	C	T	1: 83,014,812	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,180,856	I58V	probably benign	Het
Slc9a9	A	C	9: 95,229,039	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,384,523	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,138,457	V905A	probably damaging	Het
Taok3	A	G	5: 117,266,037	D759G	possibly damaging	Het
Tas1r1	T	C	4: 152,032,576	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,119,682	V360A	possibly damaging	Het
Trim12a	A	T	7: 104,304,337	M189K	possibly damaging	Het
Tspan32	T	C	7: 143,005,958	F41L	probably benign	Het
Tube1	T	A	10: 39,145,661	S301T	possibly damaging	Het
Usp8	T	C	2: 126,742,658	S596P	probably benign	Het
Virma	T	A	4: 11,521,261		probably null	Het
Vmn2r58	T	C	7: 41,864,298	D307G	probably benign	Het
Zeb2	T	C	2: 44,998,952	K327R	probably damaging	Het
Zfp54	C	T	17: 21,434,648	T468M	probably benign	Het
Zfp780b	A	T	7: 27,963,126	I668N	possibly damaging	Het

Other mutations in Bmi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:Bmi1	APN	2	18683677	missense	probably damaging	1.00
IGL02270:Bmi1	APN	2	18684458	missense	probably benign	0.00
IGL02801:Bmi1	APN	2	18681881	missense	probably damaging	1.00
IGL03265:Bmi1	APN	2	18681861	missense	possibly damaging	0.53
PIT4280001:Bmi1	UTSW	2	18683009	nonsense	probably null
PIT4434001:Bmi1	UTSW	2	18684231	missense	probably benign	0.10
R0142:Bmi1	UTSW	2	18683284	critical splice donor site	probably null
R0411:Bmi1	UTSW	2	18683172	splice site	probably benign
R0504:Bmi1	UTSW	2	18684072	splice site	probably null
R1926:Bmi1	UTSW	2	18682273	missense	probably benign	0.02
R2070:Bmi1	UTSW	2	18684040	missense	probably benign	0.01
R2238:Bmi1	UTSW	2	18683414	splice site	probably benign
R2412:Bmi1	UTSW	2	18683714	missense	probably damaging	1.00
R4915:Bmi1	UTSW	2	18682332	splice site	probably benign
R5514:Bmi1	UTSW	2	18681903	missense	probably damaging	0.98
R6222:Bmi1	UTSW	2	18683702	missense	possibly damaging	0.88
R6320:Bmi1	UTSW	2	18684375	missense	probably benign	0.00
R6456:Bmi1	UTSW	2	18682247	missense	probably damaging	1.00
R6757:Bmi1	UTSW	2	18684029	missense	probably damaging	1.00
R7310:Bmi1	UTSW	2	18684419	missense	probably benign
X0063:Bmi1	UTSW	2	18682223	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCGTTACCTGGAGGCTATG -3'
(R):5'- CCAGATGAAGTTGCTGATGACC -3'

Sequencing Primer
(F):5'- GCTATGTTGGCCCAGTACATATAAAG -3'
(R):5'- GAAGTTGCTGATGACCCATTTAG -3'

Posted On

2020-10-20