Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Bmi1'

281058

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: 0.923) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

18677018-18686629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18683677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 160 (R160W)

Ref Sequence

ENSEMBL: ENSMUSP00000118730 (fasta)

Gene Model

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

AlphaFold

P25916

Predicted Effect

probably damaging
Transcript: ENSMUST00000028071
AA Change: R160W

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

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: R160W

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: R160W

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

SMART Domains

Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: R160W

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 damaging
Transcript: ENSMUST00000156284
AA Change: R160W

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

SMART Domains

Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: R160W

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Bmi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8412:Bmi1	UTSW	2	18684303	missense	probably damaging	1.00
R9211:Bmi1	UTSW	2	18684341	missense	probably benign	0.02
X0063:Bmi1	UTSW	2	18682223	missense	probably damaging	1.00

Posted On

2015-04-16