Mutagenetix > Incidental Mutation

Incidental Mutation 'R1656:Bcl2l11'

189075

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l11

Ensembl Gene

ENSMUSG00000027381

Gene Name

BCL2 like 11

Synonyms

Bim, Bod, 1500006F24Rik

MMRRC Submission

039692-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R1656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127967958-128004467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128000176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 173 (A173V)

Ref Sequence

ENSEMBL: ENSMUSP00000105970 (fasta)

Gene Model

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

AlphaFold

O54918

Predicted Effect

probably benign
Transcript: ENSMUST00000019281
AA Change: A87V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000019281
Gene: ENSMUSG00000027381
AA Change: A87V

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: ENSMUST00000103210
AA Change: A117V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099499
Gene: ENSMUSG00000027381
AA Change: A117V

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
AA Change: A87V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099500
Gene: ENSMUSG00000027381
AA Change: A87V

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
AA Change: A173V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105970
Gene: ENSMUSG00000027381
AA Change: A173V

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

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	T	14: 32,099,901 (GRCm39)	I42N	possibly damaging	Het
Adarb2	T	A	13: 8,253,287 (GRCm39)	S11T	unknown	Het
Adgrg1	C	T	8: 95,738,438 (GRCm39)	Q644*	probably null	Het
Akr1c18	T	G	13: 4,195,252 (GRCm39)	I69L	probably benign	Het
Anxa9	C	T	3: 95,207,884 (GRCm39)	V219I	probably benign	Het
Aqp9	T	C	9: 71,045,385 (GRCm39)	T101A	probably benign	Het
Arhgef1	C	T	7: 24,613,057 (GRCm39)	R251W	probably damaging	Het
Arl13b	T	A	16: 62,627,007 (GRCm39)	E231D	possibly damaging	Het
Atosa	C	T	9: 74,916,241 (GRCm39)	A280V	probably benign	Het
Ccni	A	T	5: 93,335,933 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,485 (GRCm39)	E785G	probably benign	Het
Cdk4	A	G	10: 126,900,849 (GRCm39)	Y167C	probably benign	Het
Clip1	A	C	5: 123,768,466 (GRCm39)	V757G	possibly damaging	Het
Ctsc	T	C	7: 87,930,616 (GRCm39)	V65A	possibly damaging	Het
Cuedc2	G	A	19: 46,320,427 (GRCm39)	S48L	probably damaging	Het
Cyp39a1	T	A	17: 43,978,510 (GRCm39)	M4K	possibly damaging	Het
Dgcr8	T	C	16: 18,074,577 (GRCm39)	S733G	probably benign	Het
Dnhd1	T	C	7: 105,363,488 (GRCm39)	S4017P	probably damaging	Het
Ehbp1	A	G	11: 22,096,694 (GRCm39)	I255T	probably benign	Het
Fam83e	T	C	7: 45,371,687 (GRCm39)	V28A	probably benign	Het
Fanci	A	G	7: 79,054,936 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,478,567 (GRCm39)	Q2538*	probably null	Het
Fshr	A	G	17: 89,508,009 (GRCm39)	F11S	unknown	Het
Gab1	G	T	8: 81,515,388 (GRCm39)	P310Q	probably damaging	Het
Galnt18	A	G	7: 111,215,699 (GRCm39)		probably benign	Het
Gm28042	C	A	2: 119,869,370 (GRCm39)	P355Q	probably damaging	Het
H2-DMa	A	G	17: 34,357,116 (GRCm39)	T205A	possibly damaging	Het
Hnf4g	A	T	3: 3,718,011 (GRCm39)	D420V	probably benign	Het
Ift70b	T	C	2: 75,767,760 (GRCm39)	K331R	probably benign	Het
Il1b	A	G	2: 129,207,989 (GRCm39)	V164A	probably damaging	Het
Irf4	C	A	13: 30,941,485 (GRCm39)	H279Q	probably benign	Het
Loxhd1	A	G	18: 77,409,364 (GRCm39)	T203A	possibly damaging	Het
Lsamp	C	T	16: 41,775,682 (GRCm39)	P178S	probably damaging	Het
Mcm6	T	C	1: 128,277,155 (GRCm39)	S223G	possibly damaging	Het
Misp	G	T	10: 79,661,777 (GRCm39)	V65L	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Myef2	G	T	2: 124,939,860 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,303,216 (GRCm39)	I1079N	probably damaging	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Obox7	T	C	7: 14,399,346 (GRCm39)	S191P	probably benign	Het
Or11h7	T	C	14: 50,891,465 (GRCm39)	V257A	probably benign	Het
Or13p10	A	G	4: 118,523,385 (GRCm39)	I224V	probably damaging	Het
Or14c40	C	T	7: 86,313,331 (GRCm39)	L154F	probably benign	Het
Or1j11	G	A	2: 36,311,658 (GRCm39)	V83M	probably benign	Het
Or5w14	A	T	2: 87,541,422 (GRCm39)	V276D	possibly damaging	Het
Or7d9	A	G	9: 20,197,873 (GRCm39)	R301G	probably damaging	Het
Phf1	T	C	17: 27,156,333 (GRCm39)	S492P	possibly damaging	Het
Phyh	A	T	2: 4,943,164 (GRCm39)	N337I	probably damaging	Het
Poteg	A	T	8: 27,985,060 (GRCm39)		probably benign	Het
Prag1	G	T	8: 36,571,500 (GRCm39)	K694N	probably damaging	Het
Proser2	C	T	2: 6,107,870 (GRCm39)	E49K	probably damaging	Het
Pskh1	T	C	8: 106,656,389 (GRCm39)	V355A	possibly damaging	Het
Psmc2	T	C	5: 22,004,549 (GRCm39)	V182A	possibly damaging	Het
Rbfox1	A	G	16: 7,124,333 (GRCm39)		probably benign	Het
Slc26a7	A	T	4: 14,621,221 (GRCm39)	I55K	possibly damaging	Het
Slc5a8	G	A	10: 88,761,648 (GRCm39)		probably null	Het
Slitrk3	T	C	3: 72,957,672 (GRCm39)	R367G	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata31	A	G	13: 65,068,953 (GRCm39)	E367G	probably benign	Het
Srrm3	A	T	5: 135,863,892 (GRCm39)		probably null	Het
Ssmem1	T	C	6: 30,517,507 (GRCm39)	S6P	probably damaging	Het
Swap70	A	G	7: 109,821,034 (GRCm39)	D6G	probably benign	Het
Syt1	T	C	10: 108,419,776 (GRCm39)	E295G	probably damaging	Het
Tap2	A	T	17: 34,424,927 (GRCm39)	I192F	possibly damaging	Het
Tgoln1	C	T	6: 72,591,068 (GRCm39)	R348H	probably damaging	Het
Tln2	C	T	9: 67,134,389 (GRCm39)	V1373I	possibly damaging	Het
Tmc2	A	G	2: 130,089,854 (GRCm39)	D613G	possibly damaging	Het
Tmem62	T	A	2: 120,837,483 (GRCm39)	Y597N	probably benign	Het
Trhr2	T	A	8: 123,084,185 (GRCm39)	T272S	probably damaging	Het
Vmn2r92	T	C	17: 18,372,198 (GRCm39)	S3P	probably benign	Het
Wdfy3	A	T	5: 102,089,313 (GRCm39)	I627N	probably damaging	Het
Zfhx4	T	C	3: 5,478,076 (GRCm39)	S3564P	probably damaging	Het
Zfp467	T	G	6: 48,416,013 (GRCm39)	E213A	possibly damaging	Het
Zfp746	T	G	6: 48,041,411 (GRCm39)	K437N	probably damaging	Het
Zfp853	A	G	5: 143,274,840 (GRCm39)		probably benign	Het
Zranb1	T	A	7: 132,551,496 (GRCm39)	V49D	probably benign	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
R4548:Bcl2l11	UTSW	2	127,971,566 (GRCm39)	missense	probably benign	0.03
R4871:Bcl2l11	UTSW	2	127,970,961 (GRCm39)	intron	probably benign
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'- GTCACGTCTCCTGAGACACCAATC -3'
(R):5'- TCTGGGATAGAACCACTGGACACAC -3'

Sequencing Primer
(F):5'- TGTCCAGTACCCATGTGAAG -3'
(R):5'- ACTGGACACACTGTCGC -3'

Posted On

2014-05-09