Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Bmf'

150642

Institutional Source

Beutler Lab

Gene Symbol

Bmf

Ensembl Gene

ENSMUSG00000040093

Gene Name

BCL2 modifying factor

Synonyms

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R0009 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118359238-118380168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118380103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 14 (V14E)

Ref Sequence

ENSEMBL: ENSMUSP00000087686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090219] [ENSMUST00000110859]

AlphaFold

Q91ZE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000090219
AA Change: V14E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087686
Gene: ENSMUSG00000040093
AA Change: V14E

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
Pfam:BMF	84	270	1.9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110859

SMART Domains

Protein: ENSMUSP00000106483
Gene: ENSMUSG00000040093

Domain	Start	End	E-Value	Type
Pfam:BMF	7	190	1.9e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154521

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted knockout mutations show enlarged spleen, increased B cells and CD8-positive T cells, decreased B cells and T cells apoptosis, vagina atresia and hydrometrocolpos. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Abcg4	T	G	9: 44,188,946 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,487,151 (GRCm39)	I886N	possibly damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,182,739 (GRCm39)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Cracr2b	T	A	7: 141,043,672 (GRCm39)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,067,193 (GRCm39)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,671,939 (GRCm39)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,596,972 (GRCm39)		probably benign	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Dusp8	T	C	7: 141,635,791 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,534,636 (GRCm39)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 190,740,388 (GRCm39)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm39)	V311A	probably benign	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Gstm3	T	G	3: 107,875,156 (GRCm39)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,746,636 (GRCm39)	P151S	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Htr7	C	A	19: 36,018,940 (GRCm39)		probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,078,680 (GRCm39)	C267R	possibly damaging	Het
Larp1	A	G	11: 57,946,299 (GRCm39)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,551,417 (GRCm39)		probably benign	Het
Lep	T	A	6: 29,068,971 (GRCm39)	C7*	probably null	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mast4	T	C	13: 102,878,566 (GRCm39)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,502,334 (GRCm39)	I796T	probably benign	Het
Myef2	A	T	2: 124,950,898 (GRCm39)	D312E	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo19	T	A	11: 84,778,995 (GRCm39)		probably null	Het
Naa15	T	G	3: 51,377,640 (GRCm39)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,618,551 (GRCm39)		probably benign	Het
Plpp2	C	T	10: 79,363,078 (GRCm39)	R184H	probably benign	Het
Rab19	T	G	6: 39,366,621 (GRCm39)	L179V	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,679,327 (GRCm39)	V123E	probably damaging	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Srp72	T	C	5: 77,135,732 (GRCm39)	S221P	probably damaging	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,327,610 (GRCm39)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm39)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Tnr	G	T	1: 159,679,986 (GRCm39)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het
Zfp637	C	A	6: 117,822,629 (GRCm39)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,479,903 (GRCm39)	D693E	probably damaging	Het

Other mutations in Bmf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Bmf	APN	2	118,379,639 (GRCm39)	missense	probably benign	0.00
R4180:Bmf	UTSW	2	118,363,018 (GRCm39)	utr 3 prime	probably benign
R4598:Bmf	UTSW	2	118,379,609 (GRCm39)	missense	probably benign	0.00
R4685:Bmf	UTSW	2	118,377,283 (GRCm39)	missense	probably damaging	1.00
R5883:Bmf	UTSW	2	118,377,447 (GRCm39)	synonymous	silent
R5921:Bmf	UTSW	2	118,363,034 (GRCm39)	utr 3 prime	probably benign
R7795:Bmf	UTSW	2	118,377,358 (GRCm39)	missense	probably damaging	1.00
R8792:Bmf	UTSW	2	118,377,386 (GRCm39)	missense	probably damaging	1.00
R9473:Bmf	UTSW	2	118,363,104 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGCTTCCCGAAAGCCCCTCTTG -3'
(R):5'- AAATGCGCCCGGCCCCTTATAATG -3'

Sequencing Primer
(F):5'- AAAGCCCCTCTTGGAGCAG -3'
(R):5'- GGCCCCTTATAATGTTTCCAAG -3'

Posted On

2014-01-27