Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Bcl2l12'

172328

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l12

Ensembl Gene

ENSMUSG00000003190

Gene Name

BCL2 like 12

Synonyms

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

MMRRC Submission

039587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44640646-44647011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 44642242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 215 (G215R)

Ref Sequence

ENSEMBL: ENSMUSP00000003290 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000003290
AA Change: G215R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190
AA Change: G215R

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

noncoding transcript
Transcript: ENSMUST00000123517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207213

Predicted Effect

probably benign
Transcript: ENSMUST00000207342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208128

Predicted Effect

probably benign
Transcript: ENSMUST00000207443

Predicted Effect

probably benign
Transcript: ENSMUST00000209066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207476

Predicted Effect

probably benign
Transcript: ENSMUST00000207755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207555

Meta Mutation Damage Score

0.4839

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cct8	A	G	16: 87,282,472 (GRCm39)	I482T	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Grhl2	C	T	15: 37,336,567 (GRCm39)	A488V	probably benign	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Ifi47	A	G	11: 48,986,698 (GRCm39)	D155G	probably damaging	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	T	5: 63,957,525 (GRCm39)	D285V	probably benign	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Pigt	C	T	2: 164,343,439 (GRCm39)	T305I	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	probably damaging	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
R0684:Bcl2l12	UTSW	7	44,646,025 (GRCm39)	missense	probably benign	0.09
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'- TCACAATTGCTGGTTCAAGCCAGAG -3'
(R):5'- GCTTGGTGGTAGCTTACACTGTTCC -3'

Sequencing Primer
(F):5'- ggcatacagcaggtgctc -3'
(R):5'- CGGCTCTGCATCGTAAACTG -3'

Posted On

2014-04-13