Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Bcl2l11'

376556

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l11

Ensembl Gene

ENSMUSG00000027381

Gene Name

BCL2 like 11

Synonyms

Bim, Bod, 1500006F24Rik

MMRRC Submission

042481-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R4871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127967958-128004467 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 127970961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105970 (fasta)

Gene Model

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

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: 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

noncoding transcript
Transcript: ENSMUST00000129206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146023

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,457,078 (GRCm39)	T270A	probably null	Het
Adgrv1	A	T	13: 81,681,241 (GRCm39)		probably benign	Het
Aldh1b1	A	T	4: 45,803,383 (GRCm39)	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,153,065 (GRCm39)	C220*	probably null	Het
Ank2	T	C	3: 126,753,444 (GRCm39)	Y279C	probably damaging	Het
Anks1	T	C	17: 28,210,351 (GRCm39)	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968 (GRCm39)	T383K	probably benign	Het
Asphd1	G	T	7: 126,547,747 (GRCm39)	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,613,748 (GRCm39)	I9F	probably damaging	Het
C2cd3	T	G	7: 100,062,581 (GRCm39)	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,274,929 (GRCm39)	V156A	probably damaging	Het
Cdh8	G	C	8: 99,757,536 (GRCm39)	N687K	probably damaging	Het
Cdk19	A	G	10: 40,352,232 (GRCm39)	D338G	probably benign	Het
Cenpf	A	G	1: 189,390,728 (GRCm39)	C1035R	probably damaging	Het
Cep290	A	G	10: 100,384,776 (GRCm39)	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,224,650 (GRCm39)	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,262,300 (GRCm39)		probably benign	Het
Clasrp	T	C	7: 19,324,173 (GRCm39)	D234G	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddr2	A	G	1: 169,832,340 (GRCm39)	V150A	probably benign	Het
Dennd10	A	G	19: 60,819,252 (GRCm39)	E120G	probably damaging	Het
Dnah7b	T	C	1: 46,120,604 (GRCm39)	S74P	probably benign	Het
Dnttip2	C	A	3: 122,078,750 (GRCm39)	A743E	probably damaging	Het
Dysf	A	T	6: 84,044,005 (GRCm39)	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,462,905 (GRCm39)	E610G	probably damaging	Het
Edem3	T	G	1: 151,679,982 (GRCm39)		probably null	Het
Ext1	G	T	15: 52,955,773 (GRCm39)	N441K	probably benign	Het
Fam118a	A	G	15: 84,942,969 (GRCm39)	R333G	probably damaging	Het
Fat4	C	T	3: 38,945,754 (GRCm39)	T1549I	probably damaging	Het
Fbxo4	A	G	15: 4,005,394 (GRCm39)	V162A	probably damaging	Het
Fgd2	A	G	17: 29,592,223 (GRCm39)	H385R	possibly damaging	Het
Garnl3	A	T	2: 32,977,100 (GRCm39)	M1K	probably null	Het
Gm37267	T	G	1: 180,338,083 (GRCm39)		noncoding transcript	Het
Gpbar1	C	T	1: 74,318,702 (GRCm39)	A315V	probably damaging	Het
Grm2	T	C	9: 106,524,844 (GRCm39)	I624V	probably benign	Het
Hmcn1	T	C	1: 150,468,836 (GRCm39)	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,716,448 (GRCm39)	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,385,241 (GRCm39)	S240P	unknown	Het
Igkv4-91	A	G	6: 68,745,604 (GRCm39)	I98T	probably damaging	Het
Krt72	T	C	15: 101,694,469 (GRCm39)	N142S	probably damaging	Het
Kynu	T	A	2: 43,569,830 (GRCm39)	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,434,898 (GRCm39)		probably benign	Het
Man1a2	C	A	3: 100,524,372 (GRCm39)	V359F	probably damaging	Het
Mast1	T	C	8: 85,647,287 (GRCm39)	I623M	probably damaging	Het
Mb	A	G	15: 76,906,687 (GRCm39)		probably null	Het
Mcm4	A	C	16: 15,452,374 (GRCm39)	L113*	probably null	Het
Mcub	C	T	3: 129,710,685 (GRCm39)	W249*	probably null	Het
Mme	T	A	3: 63,247,453 (GRCm39)	V246E	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	A	G	11: 116,025,098 (GRCm39)	Y232H	probably damaging	Het
Myh7b	T	A	2: 155,455,420 (GRCm39)	M89K	probably benign	Het
Notch4	A	G	17: 34,796,536 (GRCm39)	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,652,941 (GRCm39)	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Or12d12	T	A	17: 37,611,095 (GRCm39)	T73S	probably benign	Het
Or12d14-ps1	A	T	17: 37,673,337 (GRCm39)	I107L	probably benign	Het
Or14a259	A	T	7: 86,012,692 (GRCm39)	N284K	probably damaging	Het
Or5m12	T	A	2: 85,734,715 (GRCm39)	I228F	probably benign	Het
Or8b36	G	T	9: 37,937,822 (GRCm39)	C240F	probably damaging	Het
Or8k28	A	T	2: 86,286,153 (GRCm39)	I154N	possibly damaging	Het
Palld	A	T	8: 62,002,815 (GRCm39)		probably benign	Het
Pcdhga10	T	C	18: 37,881,253 (GRCm39)	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,890,459 (GRCm39)	Y489C	probably damaging	Het
Pgm2	T	C	5: 64,261,237 (GRCm39)	Y244H	probably benign	Het
Phactr4	A	T	4: 132,105,759 (GRCm39)	S102R	probably damaging	Het
Plekha5	A	G	6: 140,471,636 (GRCm39)	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,696,013 (GRCm39)	D255G	probably benign	Het
Rgs3	T	C	4: 62,549,532 (GRCm39)	V438A	probably benign	Het
Rnf186	A	G	4: 138,695,254 (GRCm39)	T265A	probably benign	Het
Ror1	T	C	4: 100,283,195 (GRCm39)	F420S	probably benign	Het
Rtkn2	A	G	10: 67,841,463 (GRCm39)	K204E	probably damaging	Het
Rundc1	A	G	11: 101,324,874 (GRCm39)	T527A	probably benign	Het
Samd4	T	C	14: 47,303,920 (GRCm39)	S301P	probably damaging	Het
Scaf1	G	A	7: 44,655,303 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,217,210 (GRCm39)	V1034A	probably benign	Het
Stab2	T	C	10: 86,778,099 (GRCm39)	D743G	probably damaging	Het
Stim1	A	T	7: 102,003,779 (GRCm39)	I71F	probably damaging	Het
Stk17b	T	C	1: 53,796,693 (GRCm39)	D358G	probably benign	Het
Sun2	A	G	15: 79,611,765 (GRCm39)	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,845,091 (GRCm39)	T41S	probably benign	Het
Tead3	T	A	17: 28,552,589 (GRCm39)	E268V	probably damaging	Het
Tead3	A	G	17: 28,553,962 (GRCm39)	S131P	probably benign	Het
Tepsin	A	T	11: 119,982,351 (GRCm39)	M505K	possibly damaging	Het
Trbv28	A	G	6: 41,248,668 (GRCm39)	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,749,142 (GRCm39)	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Uaca	T	C	9: 60,753,283 (GRCm39)	V76A	probably damaging	Het
Vwf	A	T	6: 125,663,425 (GRCm39)	T2789S	probably benign	Het
Yipf4	T	C	17: 74,801,089 (GRCm39)	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp804b	A	T	5: 6,926,479 (GRCm39)	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,538,183 (GRCm39)	G969R	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
R5941:Bcl2l11	UTSW	2	127,969,703 (GRCm39)	unclassified	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'- AGAAGATCTTCTCTGCTGTCCC -3'
(R):5'- GGCTATAAACTTTGGCTAGAAGGC -3'

Sequencing Primer
(F):5'- CGGTCCTCCAGTGGGTATTTC -3'
(R):5'- GAAGGCCACAGATTCAAACTTTG -3'

Posted On

2016-03-17