Mutagenetix > Incidental Mutation

Incidental Mutation 'R9211:Bmi1'

698832

Institutional Source

Beutler Lab

Gene Symbol

Bmi1

Ensembl Gene

ENSMUSG00000026739

Gene Name

Bmi1 polycomb ring finger oncogene

Synonyms

Pcgf4, Bmi-1, Bmi1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R9211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18681953-18691440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18689152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 279 (S279P)

Ref Sequence

ENSEMBL: ENSMUSP00000028071 (fasta)

Gene Model

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

AlphaFold

P25916

Predicted Effect

probably benign
Transcript: ENSMUST00000028071
AA Change: S279P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: S279P

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 benign
Transcript: ENSMUST00000051929
AA Change: S279P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: S279P

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,099,161 (GRCm39)	D85Y	possibly damaging	Het
Accs	T	C	2: 93,668,614 (GRCm39)	R315G	probably damaging	Het
Adam3	A	C	8: 25,177,910 (GRCm39)	W668G	probably benign	Het
Adgrb2	T	A	4: 129,886,199 (GRCm39)	V113E	probably benign	Het
Anapc4	C	T	5: 53,007,994 (GRCm39)	T391I	possibly damaging	Het
Angpt2	C	T	8: 18,748,078 (GRCm39)	G394D	probably benign	Het
Ankrd31	C	G	13: 97,029,551 (GRCm39)	L1662V	possibly damaging	Het
Ankrd36	A	G	11: 5,612,370 (GRCm39)	D1234G	possibly damaging	Het
Ankrd6	C	T	4: 32,806,580 (GRCm39)	V558M	probably damaging	Het
Ankrd61	T	A	5: 143,828,358 (GRCm39)	M206L	probably benign	Het
Arhgap33	C	T	7: 30,223,023 (GRCm39)	G970R	possibly damaging	Het
Atf7	A	G	15: 102,437,117 (GRCm39)	V115A	unknown	Het
Atp2c2	A	T	8: 120,446,032 (GRCm39)	R65S	probably benign	Het
Atp8b5	T	A	4: 43,367,960 (GRCm39)	M861K	probably damaging	Het
Bptf	T	G	11: 106,946,124 (GRCm39)	S2372R	probably damaging	Het
Cacnb2	A	T	2: 14,879,308 (GRCm39)	I15L	unknown	Het
Card11	A	G	5: 140,869,375 (GRCm39)	M807T	probably benign	Het
Ccdc175	A	T	12: 72,153,458 (GRCm39)	D704E	probably damaging	Het
Cd300ld	T	A	11: 114,878,386 (GRCm39)	Y42F	probably damaging	Het
Cdh1	A	T	8: 107,390,962 (GRCm39)	T693S	probably benign	Het
Clca4b	T	C	3: 144,638,214 (GRCm39)	Y16C	possibly damaging	Het
Col4a4	A	G	1: 82,506,501 (GRCm39)	I273T	unknown	Het
Coro2b	C	A	9: 62,427,662 (GRCm39)	V9L	probably benign	Het
Crnkl1	T	C	2: 145,774,773 (GRCm39)	D55G	probably damaging	Het
Dcps	T	A	9: 35,035,872 (GRCm39)	N338I	probably damaging	Het
Dusp2	A	T	2: 127,179,311 (GRCm39)	H222L	probably benign	Het
Dync1li1	C	A	9: 114,518,012 (GRCm39)	Y21*	probably null	Het
Efhb	T	G	17: 53,756,507 (GRCm39)	Q381H	probably damaging	Het
Elac2	A	T	11: 64,869,864 (GRCm39)		probably benign	Het
Etaa1	A	G	11: 17,896,053 (GRCm39)	V688A	possibly damaging	Het
Fam120c	C	T	X: 150,127,495 (GRCm39)	H84Y	probably benign	Het
Fbxl7	T	A	15: 26,789,616 (GRCm39)	N37I	probably damaging	Het
Fndc3b	A	T	3: 27,523,086 (GRCm39)	W498R	probably damaging	Het
Galc	G	A	12: 98,173,699 (GRCm39)	A621V	probably benign	Het
Gch1	A	T	14: 47,426,519 (GRCm39)	I69N	probably damaging	Het
Gdpd4	T	C	7: 97,615,466 (GRCm39)	V97A	possibly damaging	Het
Hirip3	C	T	7: 126,463,567 (GRCm39)	R485*	probably null	Het
Hmgcs2	C	T	3: 98,204,748 (GRCm39)	T302I	possibly damaging	Het
Ing5	A	T	1: 93,740,409 (GRCm39)	K137I	possibly damaging	Het
Kcnh8	T	A	17: 53,146,236 (GRCm39)	Y375N	probably damaging	Het
Kdm3a	C	A	6: 71,573,674 (GRCm39)	W963L	probably benign	Het
Klra17	T	G	6: 129,842,651 (GRCm39)	I216L	possibly damaging	Het
Kmt2e	A	G	5: 23,669,770 (GRCm39)	K86E	possibly damaging	Het
Krt42	T	C	11: 100,155,867 (GRCm39)	N293S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,216 (GRCm39)	W209R	probably damaging	Het
Mettl23	C	T	11: 116,734,469 (GRCm39)	P13S	unknown	Het
Ncln	T	C	10: 81,323,527 (GRCm39)	Y540C	probably damaging	Het
Neb	C	G	2: 52,135,360 (GRCm39)	G3250A	probably damaging	Het
Nebl	A	G	2: 17,393,501 (GRCm39)		probably null	Het
Nqo2	A	T	13: 34,156,399 (GRCm39)	T38S	probably benign	Het
Obscn	A	T	11: 59,026,693 (GRCm39)	I170N	probably benign	Het
Or2bd2	G	T	7: 6,443,417 (GRCm39)	G173W	probably damaging	Het
Or4c100	A	G	2: 88,356,170 (GRCm39)	D81G	probably benign	Het
Or5af2	A	T	11: 58,708,709 (GRCm39)	N292Y	probably damaging	Het
Or5p6	C	T	7: 107,630,798 (GRCm39)	V251I	probably damaging	Het
Or7g28	T	A	9: 19,271,824 (GRCm39)	I276F	possibly damaging	Het
Or8k38	A	T	2: 86,488,024 (GRCm39)	Y259*	probably null	Het
Pacs1	A	T	19: 5,189,057 (GRCm39)	V775E	probably damaging	Het
Pheta2	A	T	15: 82,225,227 (GRCm39)		probably benign	Het
Pmfbp1	T	C	8: 110,262,445 (GRCm39)	I713T	probably benign	Het
Pnma8b	A	G	7: 16,679,589 (GRCm39)	D191G	unknown	Het
Polr1a	T	C	6: 71,943,521 (GRCm39)	I1252T	probably damaging	Het
Prss16	A	T	13: 22,192,754 (GRCm39)	M110K	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Rab5b	C	A	10: 128,519,063 (GRCm39)		probably null	Het
Reln	G	T	5: 22,549,200 (GRCm39)	Y69*	probably null	Het
Rgs12	T	A	5: 35,123,165 (GRCm39)	M316K	probably damaging	Het
Rmi2	T	C	16: 10,657,743 (GRCm39)	C118R	possibly damaging	Het
Rnf223	T	A	4: 156,216,834 (GRCm39)	C70S	probably damaging	Het
Rxrb	T	A	17: 34,255,626 (GRCm39)	F371Y	probably damaging	Het
Smurf2	T	A	11: 106,759,463 (GRCm39)	S78C	probably damaging	Het
Sorbs1	A	T	19: 40,332,798 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,032,614 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,871,319 (GRCm39)	H217R	probably benign	Het
Tiam2	T	G	17: 3,498,729 (GRCm39)	V835G	possibly damaging	Het
Tm2d2	C	T	8: 25,510,548 (GRCm39)	R136*	probably null	Het
Tnks	C	T	8: 35,316,489 (GRCm39)	D877N	probably damaging	Het
Tns1	A	G	1: 73,956,948 (GRCm39)	L491P	possibly damaging	Het
Trps1	A	G	15: 50,694,840 (GRCm39)	I485T	probably damaging	Het
Tubgcp5	A	G	7: 55,456,331 (GRCm39)	S308G	probably benign	Het
Ugt8a	T	C	3: 125,661,130 (GRCm39)	H454R	probably damaging	Het
Usp32	G	T	11: 84,913,559 (GRCm39)	T924K	probably damaging	Het
Vmn2r91	A	T	17: 18,356,819 (GRCm39)	K829*	probably null	Het
Zfc3h1	T	C	10: 115,248,328 (GRCm39)	F1146L	possibly damaging	Het
Zfp729a	G	T	13: 67,767,820 (GRCm39)	A803E	probably benign	Het
Zfp990	A	G	4: 145,264,171 (GRCm39)	T390A	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
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
X0063:Bmi1	UTSW	2	18,687,034 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACAGAGTTCGGCCAACTTG -3'
(R):5'- GACGACAGTCACATGTATTAAGCATC -3'

Sequencing Primer
(F):5'- GTTCGGCCAACTTGCAAAAG -3'
(R):5'- TAACTAAATCAGGGGGTTGAAAAATC -3'

Posted On

2022-02-07