Mutagenetix > Incidental Mutation

Incidental Mutation 'R8080:Bcl2l11'

629263

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l11

Ensembl Gene

ENSMUSG00000027381

Gene Name

BCL2 like 11

Synonyms

Bim, Bod, 1500006F24Rik

MMRRC Submission

067513-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R8080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127967958-128004467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127970586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 12 (C12R)

Ref Sequence

ENSEMBL: ENSMUSP00000105970 (fasta)

Gene Model

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

AlphaFold

O54918

Predicted Effect

probably damaging
Transcript: ENSMUST00000019281
AA Change: C12R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019281
Gene: ENSMUSG00000027381
AA Change: C12R

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 damaging
Transcript: ENSMUST00000089634
AA Change: C12R

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

SMART Domains

Protein: ENSMUSP00000087062
Gene: ENSMUSG00000027381
AA Change: C12R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103210
AA Change: C12R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099499
Gene: ENSMUSG00000027381
AA Change: C12R

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 damaging
Transcript: ENSMUST00000103211
AA Change: C12R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099500
Gene: ENSMUSG00000027381
AA Change: C12R

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 damaging
Transcript: ENSMUST00000110341
AA Change: C12R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105970
Gene: ENSMUSG00000027381
AA Change: C12R

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

0.7797

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 94.9%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,023,900 (GRCm39)	Q277R	probably damaging	Het
Anapc5	T	C	5: 122,945,401 (GRCm39)	N226D	probably damaging	Het
Arb2a	T	A	13: 78,154,565 (GRCm39)	L316Q	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Brca2	A	T	5: 150,463,357 (GRCm39)	E1040D	probably benign	Het
Cdca2	G	A	14: 67,915,004 (GRCm39)	Q752*	probably null	Het
Cntn2	T	C	1: 132,449,536 (GRCm39)	D635G	probably damaging	Het
Cntnap5b	A	T	1: 99,999,928 (GRCm39)	I229F	probably benign	Het
Ctr9	G	A	7: 110,650,774 (GRCm39)	E900K	possibly damaging	Het
Dmbt1	A	G	7: 130,690,500 (GRCm39)	Y911C	unknown	Het
Egflam	T	A	15: 7,427,561 (GRCm39)	D2V	probably benign	Het
Enpep	A	T	3: 129,092,783 (GRCm39)	N505K	probably damaging	Het
Fam13a	A	G	6: 58,933,790 (GRCm39)	S267P	probably damaging	Het
Fancc	G	T	13: 63,550,837 (GRCm39)	T12K		Het
Fbxo3	A	G	2: 103,864,012 (GRCm39)	Y89C	probably damaging	Het
Garem2	A	G	5: 30,313,385 (GRCm39)	Y83C	probably damaging	Het
Gm17079	T	C	14: 51,930,480 (GRCm39)	T122A		Het
Gm3696	A	T	14: 18,435,071 (GRCm39)	L71*	probably null	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gmip	A	T	8: 70,268,736 (GRCm39)	T454S	possibly damaging	Het
Helz2	T	A	2: 180,880,055 (GRCm39)	T554S	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrc	A	G	7: 44,986,262 (GRCm39)	E471G	probably damaging	Het
Hydin	A	G	8: 111,261,863 (GRCm39)	I2655V	probably benign	Het
Ighv1-64	T	C	12: 115,471,463 (GRCm39)	H18R	probably benign	Het
Jcad	A	G	18: 4,649,270 (GRCm39)	Y47C	probably benign	Het
Jmjd4	A	G	11: 59,341,179 (GRCm39)	T37A	probably benign	Het
Kalrn	C	T	16: 33,796,038 (GRCm39)	G2915S	possibly damaging	Het
Kdm5d	T	C	Y: 910,742 (GRCm39)	F285L	probably benign	Het
Lmna	A	G	3: 88,393,868 (GRCm39)	F237L	probably damaging	Het
Med12l	A	G	3: 59,172,607 (GRCm39)	K1788E	probably damaging	Het
Mrgprb1	T	C	7: 48,096,658 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,102,228 (GRCm39)	Y840N	probably benign	Het
Negr1	C	A	3: 156,866,357 (GRCm39)	A302E	probably damaging	Het
Nup188	T	C	2: 30,227,045 (GRCm39)	V1206A	possibly damaging	Het
Nup205	T	C	6: 35,204,311 (GRCm39)	L1399P	probably damaging	Het
Or13a20	T	C	7: 140,232,387 (GRCm39)	M165T	probably benign	Het
Or4a81	T	A	2: 89,618,971 (GRCm39)	I242F	possibly damaging	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Or6c69b	T	C	10: 129,626,997 (GRCm39)	I154V	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,885 (GRCm39)	L288S	unknown	Het
Pcdhb4	A	G	18: 37,442,349 (GRCm39)	D553G	probably benign	Het
Phip	A	G	9: 82,769,662 (GRCm39)	L1147P	probably damaging	Het
Phlpp1	A	G	1: 106,320,706 (GRCm39)	D1567G	probably benign	Het
Pigz	T	C	16: 31,760,858 (GRCm39)	C20R	probably damaging	Het
Plpp1	A	G	13: 113,004,002 (GRCm39)	K252R	probably benign	Het
Polr2a	A	T	11: 69,625,874 (GRCm39)	S1759T	unknown	Het
Rbm42	G	T	7: 30,345,136 (GRCm39)	P212T	unknown	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc9a3	A	C	13: 74,314,146 (GRCm39)	Q818P	probably benign	Het
St3gal4	T	C	9: 35,017,617 (GRCm39)		probably null	Het
Stard3nl	G	T	13: 19,554,521 (GRCm39)	A151E	probably damaging	Het
Syt9	T	A	7: 107,035,997 (GRCm39)	I338N	probably benign	Het
Ticrr	A	T	7: 79,334,012 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,713 (GRCm39)	Y169N	probably damaging	Het
Tnc	A	C	4: 63,894,706 (GRCm39)	I1560S	possibly damaging	Het
Usp7	C	A	16: 8,515,771 (GRCm39)	D644Y	probably benign	Het
Utp20	A	G	10: 88,618,577 (GRCm39)	I1141T	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 41,790,521 (GRCm39)	M503V	probably benign	Het
Zfp384	T	C	6: 125,013,521 (GRCm39)	S530P	unknown	Het
Zfp600	T	A	4: 146,133,182 (GRCm39)	C617S	unknown	Het
Zfp819	A	G	7: 43,267,148 (GRCm39)	R544G	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
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
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'- ACACCTTCATTATTTTGGGCG -3'
(R):5'- TCTGGTAGCAAAAGGGCCAG -3'

Sequencing Primer
(F):5'- CCCTTTGGTCTTACTTGGCAGATAG -3'
(R):5'- TAGCAAAAGGGCCAGGGCTG -3'

Posted On

2020-06-30