Mutagenetix > Incidental Mutation

Incidental Mutation 'R5066:Bcl2l13'

388325

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l13

Ensembl Gene

ENSMUSG00000009112

Gene Name

BCL2 like 13

Synonyms

Mil1, E430016C20Rik, Mil-1, BCL-RAMBO

MMRRC Submission

042656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120813173-120869803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120863982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 312 (V312E)

Ref Sequence

ENSEMBL: ENSMUSP00000009256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009256] [ENSMUST00000160684]

AlphaFold

P59017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009256
AA Change: V312E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000009256
Gene: ENSMUSG00000009112
AA Change: V312E

Domain	Start	End	E-Value	Type
low complexity region	51	67	N/A	INTRINSIC
BCL	106	197	4.19e0	SMART
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160684

SMART Domains

Protein: ENSMUSP00000125731
Gene: ENSMUSG00000004446

Domain	Start	End	E-Value	Type
Pfam:BID	1	195	3.8e-93	PFAM

Meta Mutation Damage Score

0.0950

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	T	11: 70,507,417 (GRCm39)	Y154F	probably benign	Het
Abca5	A	T	11: 110,200,176 (GRCm39)		probably benign	Het
Agtpbp1	T	A	13: 59,622,364 (GRCm39)	D11V	probably damaging	Het
Aldh1a2	G	A	9: 71,188,982 (GRCm39)	A299T	possibly damaging	Het
Apc	T	A	18: 34,449,158 (GRCm39)	V1984D	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Atp13a2	G	A	4: 140,732,449 (GRCm39)	V905M	probably damaging	Het
Atp1a1	C	T	3: 101,489,420 (GRCm39)	G731R	probably damaging	Het
Atrn	T	C	2: 130,836,113 (GRCm39)	V1131A	possibly damaging	Het
Chic2	A	G	5: 75,187,817 (GRCm39)	V81A	possibly damaging	Het
Drg1	A	T	11: 3,209,353 (GRCm39)	I122N	possibly damaging	Het
Efcab3	A	G	11: 104,611,490 (GRCm39)	D444G	probably benign	Het
Flt4	A	G	11: 49,524,990 (GRCm39)	N612S	possibly damaging	Het
Hadhb	T	C	5: 30,369,094 (GRCm39)		probably benign	Het
Heg1	G	T	16: 33,559,041 (GRCm39)	R856S	probably benign	Het
Ice2	A	C	9: 69,315,573 (GRCm39)	N143T	probably benign	Het
Igkv8-21	G	A	6: 70,292,427 (GRCm39)	Q4*	probably null	Het
Lrfn2	T	C	17: 49,403,448 (GRCm39)	S524P	probably damaging	Het
Mndal	C	A	1: 173,703,229 (GRCm39)	A59S	probably damaging	Het
Mpp7	T	C	18: 7,513,002 (GRCm39)	E33G	possibly damaging	Het
Msantd5l	A	G	11: 51,145,251 (GRCm39)	F112S	probably damaging	Het
Nedd4	T	A	9: 72,617,801 (GRCm39)	D187E	probably damaging	Het
Nfx1	A	G	4: 40,991,868 (GRCm39)	I519V	probably benign	Het
Or10p22	G	A	10: 128,826,660 (GRCm39)	R293Q	probably damaging	Het
Or6c204	T	C	10: 129,022,433 (GRCm39)	I286V	possibly damaging	Het
Padi1	T	C	4: 140,556,748 (GRCm39)	N153S	probably damaging	Het
Parp10	A	G	15: 76,125,146 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,900,514 (GRCm39)	M1051K	probably damaging	Het
Slc2a7	T	A	4: 150,244,573 (GRCm39)	M347K	probably damaging	Het
Slc45a2	C	A	15: 11,012,693 (GRCm39)	T232K	probably benign	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Spata13	T	C	14: 60,987,538 (GRCm39)	Y899H	possibly damaging	Het
Sult1c2	T	A	17: 54,281,026 (GRCm39)	I26F	probably damaging	Het
Sybu	A	G	15: 44,541,040 (GRCm39)	C341R	probably damaging	Het
Syk	T	A	13: 52,796,018 (GRCm39)	S538T	possibly damaging	Het
Syne2	A	G	12: 76,013,325 (GRCm39)	T2840A	probably benign	Het
Thsd4	A	G	9: 59,883,615 (GRCm39)	C924R	probably damaging	Het
Tle1	A	G	4: 72,076,504 (GRCm39)	S175P	probably benign	Het
Tmbim4	C	T	10: 120,053,537 (GRCm39)	T112M	probably benign	Het
Tmprss11a	A	G	5: 86,567,859 (GRCm39)		probably null	Het
Tnc	C	A	4: 63,893,466 (GRCm39)	D1698Y	probably damaging	Het
Ypel1	A	G	16: 16,927,539 (GRCm39)	Y18H	probably benign	Het

Other mutations in Bcl2l13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02615:Bcl2l13	APN	6	120,839,828 (GRCm39)	missense	probably damaging	0.98
R1344:Bcl2l13	UTSW	6	120,853,288 (GRCm39)	missense	probably benign	0.23
R1528:Bcl2l13	UTSW	6	120,847,755 (GRCm39)	missense	possibly damaging	0.86
R1580:Bcl2l13	UTSW	6	120,842,675 (GRCm39)	missense	probably benign	0.06
R1743:Bcl2l13	UTSW	6	120,825,504 (GRCm39)	nonsense	probably null
R4949:Bcl2l13	UTSW	6	120,864,191 (GRCm39)	missense	probably damaging	1.00
R5470:Bcl2l13	UTSW	6	120,839,833 (GRCm39)	missense	probably benign	0.07
R6370:Bcl2l13	UTSW	6	120,842,583 (GRCm39)	missense	probably benign	0.03
R6843:Bcl2l13	UTSW	6	120,825,578 (GRCm39)	critical splice donor site	probably null
R6866:Bcl2l13	UTSW	6	120,839,850 (GRCm39)	missense	probably benign	0.07
R7661:Bcl2l13	UTSW	6	120,842,558 (GRCm39)	missense	possibly damaging	0.53
R7910:Bcl2l13	UTSW	6	120,842,646 (GRCm39)	missense	possibly damaging	0.87
R8192:Bcl2l13	UTSW	6	120,853,267 (GRCm39)	missense	possibly damaging	0.85
R9220:Bcl2l13	UTSW	6	120,847,735 (GRCm39)	missense	possibly damaging	0.93
R9749:Bcl2l13	UTSW	6	120,842,633 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGACAACATCCTGGCAGTCG -3'
(R):5'- CAAAGAGCAGTACGGCCTTG -3'

Sequencing Primer
(F):5'- CAACATCCTGGCAGTCGGAGAG -3'
(R):5'- TCCTCACTCAGCTGAGCG -3'

Posted On

2016-06-06