Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Bcl2l12'

461466

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l12

Ensembl Gene

ENSMUSG00000003190

Gene Name

BCL2 like 12

Synonyms

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

MMRRC Submission

044115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5918 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

44640646-44647011 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 44640888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003290] [ENSMUST00000107843] [ENSMUST00000207755] [ENSMUST00000207443] [ENSMUST00000207370]

AlphaFold

Q9D3J3

Predicted Effect

probably benign
Transcript: ENSMUST00000003290

SMART Domains

Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190

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: ENSMUST00000107843

SMART Domains

Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324

Domain	Start	End	E-Value	Type
Pfam:PRMT5	41	343	1.9e-8	PFAM
Pfam:MTS	78	162	1.1e-6	PFAM
Pfam:PrmA	79	181	1.3e-9	PFAM
Pfam:Methyltransf_31	86	226	4e-10	PFAM
Pfam:Methyltransf_18	88	192	6.2e-9	PFAM
Pfam:Methyltransf_11	93	192	1e-8	PFAM

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

noncoding transcript
Transcript: ENSMUST00000208128

Predicted Effect

probably benign
Transcript: ENSMUST00000207755

Predicted Effect

probably benign
Transcript: ENSMUST00000207443

Predicted Effect

probably benign
Transcript: ENSMUST00000207370

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Aknad1	C	T	3: 108,659,703 (GRCm39)	P239L	probably benign	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Gpa33	T	C	1: 165,958,107 (GRCm39)		probably null	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lmbr1l	A	T	15: 98,810,308 (GRCm39)	I101N	probably damaging	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Ola1	T	C	2: 72,987,128 (GRCm39)	E168G	probably benign	Het
Or1a1	T	C	11: 74,086,944 (GRCm39)	V205A	probably damaging	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tmprss4	T	A	9: 45,086,414 (GRCm39)	K378*	probably null	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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
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'- TCGTGCATTCACTCCAGTGC -3'
(R):5'- GCCCTGCTTCTATTGACATAGATG -3'

Sequencing Primer
(F):5'- GTGCATTCACTCCAGTGCAAATG -3'
(R):5'- CTATTGACATAGATGACAGAAGAGCC -3'

Posted On

2017-02-28