Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Bcl2l12'

61070

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l12

Ensembl Gene

ENSMUSG00000003190

Gene Name

BCL2 like 12

Synonyms

2810475P17Rik, 5430429M05Rik, Bcl-L12, Bcl2-L12

MMRRC Submission

038869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0684 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

44640646-44647011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44646025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 65 (T65S)

Ref Sequence

ENSEMBL: ENSMUSP00000146945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000107834] [ENSMUST00000207128] [ENSMUST00000207755] [ENSMUST00000207443] [ENSMUST00000207342] [ENSMUST00000207521] [ENSMUST00000209066]

AlphaFold

Q9D3J3

Predicted Effect

probably benign
Transcript: ENSMUST00000003284

SMART Domains

Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000003290
AA Change: T65S

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

SMART Domains

Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190
AA Change: T65S

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	123	139	N/A	INTRINSIC
low complexity region	170	197	N/A	INTRINSIC
SCOP:d1maz__	227	243	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107834

SMART Domains

Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152595

Predicted Effect

probably benign
Transcript: ENSMUST00000207128

Predicted Effect

probably benign
Transcript: ENSMUST00000207755
AA Change: T65S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207443
AA Change: T65S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000207342
AA Change: T65S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208143

Predicted Effect

probably benign
Transcript: ENSMUST00000208958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207213

Predicted Effect

probably benign
Transcript: ENSMUST00000207521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208128

Predicted Effect

probably benign
Transcript: ENSMUST00000207129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208767

Predicted Effect

probably benign
Transcript: ENSMUST00000209066

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,428 (GRCm39)	L731H	probably damaging	Het
Adora2b	C	T	11: 62,139,995 (GRCm39)	A23V	probably benign	Het
Ankrd17	T	C	5: 90,411,857 (GRCm39)	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,239,442 (GRCm39)	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,260,593 (GRCm39)	E419G	probably benign	Het
Atxn1l	A	T	8: 110,459,016 (GRCm39)	N415K	probably damaging	Het
Bdh2	A	G	3: 134,996,774 (GRCm39)	I90V	probably benign	Het
Bsph1	T	A	7: 13,206,988 (GRCm39)	N121K	probably damaging	Het
Cd96	T	C	16: 45,938,153 (GRCm39)	Y104C	possibly damaging	Het
Chdh	T	C	14: 29,753,570 (GRCm39)	W160R	probably damaging	Het
Clock	A	G	5: 76,393,365 (GRCm39)	F193L	probably damaging	Het
Copz1	A	G	15: 103,204,958 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,379,500 (GRCm39)	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,501,751 (GRCm39)	I253K	probably benign	Het
Dhrs13	G	T	11: 77,927,789 (GRCm39)	A212S	probably damaging	Het
Ecsit	T	C	9: 21,987,796 (GRCm39)	N81S	probably benign	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Emid1	T	C	11: 5,093,866 (GRCm39)	R92G	probably damaging	Het
Ermp1	A	G	19: 29,609,941 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,432,893 (GRCm39)		probably null	Het
Hsd17b3	T	C	13: 64,236,882 (GRCm39)	M21V	probably benign	Het
Kat6b	T	C	14: 21,718,849 (GRCm39)	V1176A	probably benign	Het
Midn	A	G	10: 79,992,336 (GRCm39)	K463E	probably damaging	Het
Mier1	A	G	4: 102,996,631 (GRCm39)	E103G	probably damaging	Het
Muc15	A	G	2: 110,564,160 (GRCm39)	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,294,875 (GRCm39)	E15V	probably damaging	Het
Or10a5	A	T	7: 106,635,889 (GRCm39)	N176Y	probably damaging	Het
Or2n1d	A	G	17: 38,646,735 (GRCm39)	K229R	probably benign	Het
Or52n2b	T	A	7: 104,565,841 (GRCm39)	T221S	probably benign	Het
Pate14	C	T	9: 36,549,176 (GRCm39)	G28E	probably benign	Het
Pigf	A	T	17: 87,327,923 (GRCm39)	F115I	probably benign	Het
Prpsap1	A	T	11: 116,362,317 (GRCm39)	V355E	probably damaging	Het
Ptprk	G	T	10: 28,359,294 (GRCm39)		probably benign	Het
Rae1	G	A	2: 172,846,957 (GRCm39)	R67H	probably damaging	Het
Sema3a	G	A	5: 13,606,494 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,126,758 (GRCm39)	T104A	probably benign	Het
Slc38a2	A	T	15: 96,593,168 (GRCm39)	L137*	probably null	Het
Smgc	A	G	15: 91,725,670 (GRCm39)		probably benign	Het
Syce3	A	G	15: 89,274,648 (GRCm39)		probably benign	Het
Syt9	T	A	7: 107,024,343 (GRCm39)	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,592,974 (GRCm39)	S169A	probably benign	Het
Thnsl1	A	G	2: 21,216,477 (GRCm39)	D77G	probably benign	Het
Tsr1	T	A	11: 74,798,767 (GRCm39)	V712E	probably damaging	Het
Wdr12	C	T	1: 60,128,525 (GRCm39)		probably benign	Het
Xdh	T	A	17: 74,250,886 (GRCm39)	N22I	probably damaging	Het
Zfp3	T	A	11: 70,662,395 (GRCm39)	L118Q	probably benign	Het
Zfp592	A	G	7: 80,687,623 (GRCm39)	N883D	probably benign	Het
Zfp609	T	A	9: 65,638,483 (GRCm39)	M250L	probably benign	Het
Zfp94	A	T	7: 24,002,495 (GRCm39)	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,521,947 (GRCm39)	N472S	probably benign	Het

Other mutations in Bcl2l12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02475:Bcl2l12	APN	7	44,646,317 (GRCm39)	missense	possibly damaging	0.46
IGL02675:Bcl2l12	APN	7	44,640,824 (GRCm39)	unclassified	probably benign
R1548:Bcl2l12	UTSW	7	44,642,242 (GRCm39)	missense	probably damaging	1.00
R4612:Bcl2l12	UTSW	7	44,646,009 (GRCm39)	missense	probably damaging	1.00
R4995:Bcl2l12	UTSW	7	44,643,615 (GRCm39)	splice site	probably null
R5171:Bcl2l12	UTSW	7	44,640,818 (GRCm39)	unclassified	probably benign
R5910:Bcl2l12	UTSW	7	44,645,967 (GRCm39)	critical splice donor site	probably null
R5918:Bcl2l12	UTSW	7	44,640,888 (GRCm39)	unclassified	probably benign
R7112:Bcl2l12	UTSW	7	44,646,338 (GRCm39)	missense	probably damaging	1.00
R7471:Bcl2l12	UTSW	7	44,645,977 (GRCm39)	missense	possibly damaging	0.83
R9401:Bcl2l12	UTSW	7	44,643,674 (GRCm39)	missense	possibly damaging	0.92
R9671:Bcl2l12	UTSW	7	44,642,301 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGCTGAAGCTGAACCGTGTTG -3'
(R):5'- CTTCCTGAGTCTTGTGGTCCAAACC -3'

Sequencing Primer
(F):5'- GCTGAACCGTGTTGACTTTATAATG -3'
(R):5'- AGACCTAACTCCATGTGCCTG -3'

Posted On

2013-07-30