Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Bmi1'

415039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmi1

Ensembl Gene

ENSMUSG00000026739

Gene Name

Bmi1 polycomb ring finger oncogene

Synonyms

Bmi1, Bmi-1, Pcgf4

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

18677018-18686629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18681861 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 17 (M17K)

Ref Sequence

ENSEMBL: ENSMUSP00000118730 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028071
AA Change: M17K

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: M17K

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

possibly damaging
Transcript: ENSMUST00000051929
AA Change: M17K

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: M17K

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

possibly damaging
Transcript: ENSMUST00000134734
AA Change: M17K

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
AA Change: M17K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147365
AA Change: M17K

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739
AA Change: M17K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150834
AA Change: M17K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
AA Change: M17K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156284
AA Change: M17K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: M17K

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

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Ces2a	C	T	8: 104,737,443	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Dus2	C	A	8: 106,033,791		probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Erap1	A	T	13: 74,664,127	T354S	probably damaging	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hephl1	G	A	9: 15,060,959	T895I	probably benign	Het
Hey1	T	C	3: 8,664,914	Y161C	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Lpp	A	G	16: 24,761,987	Y151C	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	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
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
R8412:Bmi1	UTSW	2	18684303	missense	probably damaging	1.00
X0063:Bmi1	UTSW	2	18682223	missense	probably damaging	1.00

Posted On

2016-08-02