Mutagenetix > Incidental Mutation

Incidental Mutation 'R5941:Bcl2l11'

460235

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l11

Ensembl Gene

ENSMUSG00000027381

Gene Name

BCL2 like 11

Synonyms

Bim, Bod, 1500006F24Rik

MMRRC Submission

044133-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R5941 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

127967958-128004467 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 127969703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019281] [ENSMUST00000028859] [ENSMUST00000089634] [ENSMUST00000103210] [ENSMUST00000103211] [ENSMUST00000110341] [ENSMUST00000110344]

AlphaFold

O54918

Predicted Effect

probably benign
Transcript: ENSMUST00000019281

SMART Domains

Protein: ENSMUSP00000019281
Gene: ENSMUSG00000027381

Domain	Start	End	E-Value	Type
Pfam:Bim_N	4	40	1.2e-24	PFAM
Pfam:Bclx_interact	41	79	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028859

SMART Domains

Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_M	115	223	7.2e-19	PFAM
Pfam:Acyl-CoA_dh_1	254	416	1.8e-14	PFAM
Pfam:ACOX	458	599	6.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089634

SMART Domains

Protein: ENSMUSP00000087062
Gene: ENSMUSG00000027381

Domain	Start	End	E-Value	Type
Pfam:Bim_N	4	40	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103210

SMART Domains

Protein: ENSMUSP00000099499
Gene: ENSMUSG00000027381

Domain	Start	End	E-Value	Type
Pfam:Bim_N	4	40	6.7e-24	PFAM
Pfam:Bclx_interact	71	109	9.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103211

SMART Domains

Protein: ENSMUSP00000099500
Gene: ENSMUSG00000027381

Domain	Start	End	E-Value	Type
Pfam:Bim_N	4	40	1.2e-24	PFAM
Pfam:Bclx_interact	41	79	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110341

SMART Domains

Protein: ENSMUSP00000105970
Gene: ENSMUSG00000027381

Domain	Start	End	E-Value	Type
Pfam:Bim_N	4	40	1.3e-24	PFAM
low complexity region	80	90	N/A	INTRINSIC
Pfam:Bclx_interact	128	165	3.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110344

SMART Domains

Protein: ENSMUSP00000105973
Gene: ENSMUSG00000027380

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_1	1	136	1.2e-9	PFAM
Pfam:ACOX	175	319	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146023

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

97% (95/98)

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 BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
PHENOTYPE: Consistent with this gene's role in hematopoietic homeostasis, homozygous null mutants accumulate lymphoid and myeloid cells and succumb to autoimmune kidney disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,190,321 (GRCm39)	D70E	probably damaging	Het
Adamts14	C	T	10: 61,057,674 (GRCm39)	G561R	probably damaging	Het
Alpk3	A	T	7: 80,728,401 (GRCm39)	K510N	probably damaging	Het
Ap3b1	A	G	13: 94,576,781 (GRCm39)	N269D	probably benign	Het
Ap3b1	T	C	13: 94,619,773 (GRCm39)	S144P	probably damaging	Het
Apba2	C	A	7: 64,395,464 (GRCm39)	Q635K	probably benign	Het
Aspg	C	T	12: 112,079,519 (GRCm39)	T99I	probably benign	Het
Atp7b	A	G	8: 22,487,512 (GRCm39)	V1179A	probably damaging	Het
Bbs12	T	C	3: 37,374,197 (GRCm39)	V215A	probably damaging	Het
Bglap3	T	G	3: 88,283,653 (GRCm39)		probably benign	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cdh26	C	T	2: 178,123,443 (GRCm39)	Q662*	probably null	Het
Cftr	T	A	6: 18,313,645 (GRCm39)	F1290I	probably damaging	Het
Clip3	G	A	7: 29,991,731 (GRCm39)	E36K	probably damaging	Het
Cog2	A	G	8: 125,272,825 (GRCm39)	I541V	probably benign	Het
Cpt1b	A	T	15: 89,309,417 (GRCm39)	W39R	probably damaging	Het
Csmd1	A	G	8: 15,982,471 (GRCm39)	V2732A	probably damaging	Het
Dlec1	A	G	9: 118,955,380 (GRCm39)	D688G	probably damaging	Het
Dnah12	A	G	14: 26,428,022 (GRCm39)	E216G	probably benign	Het
Dnah7b	C	A	1: 46,226,450 (GRCm39)	L1294I	probably damaging	Het
Duox1	T	A	2: 122,174,637 (GRCm39)	L1265Q	probably damaging	Het
Fam91a1	T	A	15: 58,303,166 (GRCm39)	D358E	probably benign	Het
Fat3	A	C	9: 15,910,797 (GRCm39)	I1735S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabrr1	T	A	4: 33,162,676 (GRCm39)	M414K	probably benign	Het
Gm21915	A	C	9: 40,581,995 (GRCm39)	E29D	possibly damaging	Het
Gm9955	G	A	18: 24,842,320 (GRCm39)		probably benign	Het
Gpat2	C	A	2: 127,270,195 (GRCm39)	D69E	possibly damaging	Het
Grin2b	T	G	6: 135,713,371 (GRCm39)	I837L	probably damaging	Het
Gucy2g	T	C	19: 55,203,563 (GRCm39)	D745G	probably damaging	Het
H2-Q1	A	G	17: 35,540,332 (GRCm39)	Y139C	probably damaging	Het
Ints2	G	C	11: 86,141,798 (GRCm39)	N216K	probably benign	Het
Jmy	G	A	13: 93,635,333 (GRCm39)	P161L	probably benign	Het
Kctd11	G	A	11: 69,770,799 (GRCm39)	R80W	possibly damaging	Het
Kif7	A	G	7: 79,360,880 (GRCm39)		probably benign	Het
Kifc1	C	T	17: 34,102,059 (GRCm39)		probably benign	Het
Lcor	G	A	19: 41,574,839 (GRCm39)	R1198Q	probably damaging	Het
Mir412	C	A	12: 109,709,733 (GRCm39)		noncoding transcript	Het
Mknk1	T	A	4: 115,733,834 (GRCm39)		probably benign	Het
Mmp16	A	G	4: 18,054,354 (GRCm39)		probably benign	Het
Mmp7	A	G	9: 7,697,646 (GRCm39)	H227R	probably damaging	Het
Myh4	A	C	11: 67,150,126 (GRCm39)	D1861A	probably damaging	Het
Nup205	T	C	6: 35,209,343 (GRCm39)	L1550P	probably damaging	Het
Or10g1	C	T	14: 52,647,525 (GRCm39)	G268D	probably benign	Het
Or2a56	G	T	6: 42,932,650 (GRCm39)	A73S	possibly damaging	Het
Or4c113	T	A	2: 88,884,963 (GRCm39)	H269L	probably benign	Het
Or4c58	T	A	2: 89,674,859 (GRCm39)	I153F	probably benign	Het
Or51af1	A	G	7: 103,141,927 (GRCm39)	S53P	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pafah1b2	A	T	9: 45,887,405 (GRCm39)	C35*	probably null	Het
Pappa	T	A	4: 65,232,830 (GRCm39)	F1323Y	possibly damaging	Het
Phtf2	A	T	5: 20,979,071 (GRCm39)	F519Y	probably damaging	Het
Pigk	T	C	3: 152,472,150 (GRCm39)	I354T	possibly damaging	Het
Plekha7	T	C	7: 115,724,040 (GRCm39)	D1265G	possibly damaging	Het
Prss12	A	G	3: 123,299,150 (GRCm39)	R641G	probably benign	Het
Prss28	A	G	17: 25,528,717 (GRCm39)	Y53C	probably damaging	Het
Rabgap1	G	T	2: 37,451,908 (GRCm39)	C936F	possibly damaging	Het
Rap1a	T	C	3: 105,639,385 (GRCm39)	I91M	possibly damaging	Het
Rap1gap2	A	T	11: 74,283,063 (GRCm39)	M679K	probably damaging	Het
Rapgef5	T	A	12: 117,692,473 (GRCm39)	L352I	probably damaging	Het
Rhbdl3	G	A	11: 80,222,715 (GRCm39)	V255M	probably benign	Het
Rhot1	T	C	11: 80,141,996 (GRCm39)		probably benign	Het
Rita1	A	C	5: 120,747,626 (GRCm39)	V224G	probably benign	Het
Ryr2	T	A	13: 11,702,788 (GRCm39)	Y2900F	probably damaging	Het
Scaf11	A	C	15: 96,318,189 (GRCm39)	H458Q	probably damaging	Het
Scamp4	T	A	10: 80,448,255 (GRCm39)	S159T	probably benign	Het
Setd5	T	A	6: 113,105,451 (GRCm39)	Y828N	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sipa1l2	A	G	8: 126,200,275 (GRCm39)	S684P	probably damaging	Het
Stard9	A	T	2: 120,544,039 (GRCm39)	I4446F	probably damaging	Het
Sult1c2	T	C	17: 54,138,926 (GRCm39)	D217G	probably benign	Het
Supt16	C	A	14: 52,419,653 (GRCm39)	K148N	probably benign	Het
Syne3	G	A	12: 104,913,251 (GRCm39)	S570L	probably benign	Het
Tcf3	G	T	10: 80,248,878 (GRCm39)	D534E	probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trbv3	T	C	6: 41,025,335 (GRCm39)	I3T	probably benign	Het
Trbv4	T	A	6: 41,036,563 (GRCm39)	Y29*	probably null	Het
Ttl	A	G	2: 128,917,904 (GRCm39)	N122S	probably benign	Het
Txndc11	T	C	16: 10,892,935 (GRCm39)	T932A	probably benign	Het
Ube2e2	G	A	14: 18,586,910 (GRCm38)	A150V	probably damaging	Het
Ube2ql1	T	C	13: 69,887,459 (GRCm39)	M1V	probably null	Het
Uqcrc1	A	G	9: 108,776,554 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,362,227 (GRCm39)	D2702G	probably damaging	Het
Vcan	T	A	13: 89,840,810 (GRCm39)	D618V	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,787 (GRCm39)		noncoding transcript	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zap70	G	A	1: 36,810,030 (GRCm39)	V47M	probably damaging	Het
Zfp770	A	G	2: 114,028,027 (GRCm39)	M14T	possibly damaging	Het
Zup1	C	T	10: 33,825,458 (GRCm39)	G8D	probably damaging	Het

Other mutations in Bcl2l11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01794:Bcl2l11	APN	2	127,970,568 (GRCm39)	missense	probably damaging	1.00
PIT4243001:Bcl2l11	UTSW	2	127,989,026 (GRCm39)	missense	probably benign	0.03
R1656:Bcl2l11	UTSW	2	128,000,176 (GRCm39)	missense	probably benign	0.07
R4548:Bcl2l11	UTSW	2	127,971,566 (GRCm39)	missense	probably benign	0.03
R4871:Bcl2l11	UTSW	2	127,970,961 (GRCm39)	intron	probably benign
R7112:Bcl2l11	UTSW	2	128,000,235 (GRCm39)	missense	probably damaging	1.00
R7878:Bcl2l11	UTSW	2	127,970,608 (GRCm39)	nonsense	probably null
R8080:Bcl2l11	UTSW	2	127,970,586 (GRCm39)	missense	probably damaging	1.00
R8529:Bcl2l11	UTSW	2	127,970,796 (GRCm39)	missense	possibly damaging	0.95
R8980:Bcl2l11	UTSW	2	128,000,200 (GRCm39)	missense	possibly damaging	0.94
R9051:Bcl2l11	UTSW	2	128,000,221 (GRCm39)	missense	probably damaging	0.99
Z1177:Bcl2l11	UTSW	2	127,989,113 (GRCm39)	missense	probably damaging	1.00
Z1177:Bcl2l11	UTSW	2	127,970,915 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTGGTTACGATGGGGAGC -3'
(R):5'- AAACCACTTCTCTCGGGTGC -3'

Sequencing Primer
(F):5'- TTACGATGGGGAGCGACTGC -3'
(R):5'- CAACCTTGCCGGAATGTGCAC -3'

Posted On

2017-02-28