Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Bcl2l13'

433460

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l13

Ensembl Gene

ENSMUSG00000009112

Gene Name

BCL2 like 13

Synonyms

Mil1, E430016C20Rik, Mil-1, BCL-RAMBO

MMRRC Submission

043031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120813173-120869803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120839833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 44 (A44S)

Ref Sequence

ENSEMBL: ENSMUSP00000009256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009256] [ENSMUST00000203037] [ENSMUST00000203584]

AlphaFold

P59017

Predicted Effect

probably benign
Transcript: ENSMUST00000009256
AA Change: A44S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000009256
Gene: ENSMUSG00000009112
AA Change: A44S

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: ENSMUST00000203037

Predicted Effect

probably benign
Transcript: ENSMUST00000203584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204004

Meta Mutation Damage Score

0.0990

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,715 (GRCm39)	I813F	probably damaging	Het
Aqr	G	A	2: 113,988,056 (GRCm39)	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,892,058 (GRCm39)	R182C	probably benign	Het
Brip1	T	C	11: 86,039,368 (GRCm39)	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,673,045 (GRCm39)		probably benign	Het
Ccdc7b	T	A	8: 129,799,081 (GRCm39)	S53T	possibly damaging	Het
Chd8	A	G	14: 52,450,066 (GRCm39)	F154L	probably damaging	Het
Cop1	A	T	1: 159,094,430 (GRCm39)		probably benign	Het
Cyp2c39	A	G	19: 39,501,974 (GRCm39)	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,309,429 (GRCm39)	M256V	probably benign	Het
Deup1	T	C	9: 15,493,916 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,830,232 (GRCm39)	N709D	probably benign	Het
Dthd1	A	G	5: 62,976,109 (GRCm39)	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
En2	C	T	5: 28,371,922 (GRCm39)	T133M	probably benign	Het
Endou	A	G	15: 97,616,836 (GRCm39)	F229S	probably damaging	Het
Etl4	A	T	2: 20,534,791 (GRCm39)	H79L	probably damaging	Het
Fah	C	T	7: 84,242,393 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fignl1	T	A	11: 11,752,640 (GRCm39)	E138D	probably benign	Het
Fndc3a	A	G	14: 72,812,008 (GRCm39)	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,327,581 (GRCm39)	V179E	probably benign	Het
Gm14129	G	T	2: 148,769,737 (GRCm39)		noncoding transcript	Het
Gorab	A	G	1: 163,220,078 (GRCm39)	I188T	probably damaging	Het
Gpr152	G	A	19: 4,193,128 (GRCm39)	C223Y	probably damaging	Het
Heatr5b	A	T	17: 79,129,008 (GRCm39)		probably null	Het
Hsd17b3	G	T	13: 64,221,713 (GRCm39)	T104N	probably damaging	Het
Il6ra	C	T	3: 89,793,302 (GRCm39)	V283M	probably benign	Het
Klk1b16	A	T	7: 43,786,755 (GRCm39)	I5F	probably damaging	Het
Krt74	G	A	15: 101,662,900 (GRCm39)		noncoding transcript	Het
Lrch3	T	A	16: 32,818,960 (GRCm39)	N650K	probably damaging	Het
Ly96	A	T	1: 16,779,710 (GRCm39)	E126D	probably benign	Het
Mgarp	C	A	3: 51,298,706 (GRCm39)	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,242,147 (GRCm39)	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,443,643 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,139,450 (GRCm39)	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,838,350 (GRCm39)	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,617,248 (GRCm39)		probably null	Het
Nsl1	T	C	1: 190,812,737 (GRCm39)	M184T	probably benign	Het
Nup133	T	C	8: 124,657,705 (GRCm39)	N410S	probably benign	Het
Opalin	A	G	19: 41,054,970 (GRCm39)	S75P	probably benign	Het
Or1e17	T	C	11: 73,831,696 (GRCm39)	I208T	probably benign	Het
Or3a4	A	G	11: 73,944,733 (GRCm39)	I284T	possibly damaging	Het
Or51ag1	T	G	7: 103,155,716 (GRCm39)	I146L	probably benign	Het
Palb2	C	A	7: 121,713,574 (GRCm39)	C903F	probably damaging	Het
Pcm1	T	A	8: 41,740,720 (GRCm39)	W989R	probably damaging	Het
Pfkfb4	T	A	9: 108,856,661 (GRCm39)	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,603,306 (GRCm39)	C119R	probably benign	Het
Plekha1	T	C	7: 130,510,106 (GRCm39)	V45A	probably damaging	Het
Pold2	G	A	11: 5,823,048 (GRCm39)	P376S	probably damaging	Het
Rcan2	A	G	17: 44,147,174 (GRCm39)	D4G	probably benign	Het
Slc12a1	A	T	2: 125,012,634 (GRCm39)	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,138,880 (GRCm39)	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,585,234 (GRCm39)	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco4a1	T	C	2: 180,115,907 (GRCm39)	F681S	probably benign	Het
Sorcs2	A	T	5: 36,188,527 (GRCm39)	H860Q	probably benign	Het
Strn	A	T	17: 78,964,374 (GRCm39)	H530Q	probably benign	Het
Tex14	A	G	11: 87,442,430 (GRCm39)	R179G	probably damaging	Het
Tjp3	T	C	10: 81,115,381 (GRCm39)	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,800,912 (GRCm39)	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,935,947 (GRCm39)	D2666G	probably null	Het
Ttn	A	T	2: 76,560,208 (GRCm39)	Y27652N	probably benign	Het
Utp20	T	A	10: 88,653,758 (GRCm39)	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,910,698 (GRCm39)	I91V	probably benign	Het
Wdr72	A	T	9: 74,046,981 (GRCm39)	K76*	probably null	Het
Zfp689	C	T	7: 127,043,425 (GRCm39)	A402T	probably damaging	Het
Zfpm1	A	G	8: 123,060,532 (GRCm39)	E207G	probably damaging	Het
Zhx2	G	T	15: 57,686,470 (GRCm39)	R613L	possibly damaging	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
R5066:Bcl2l13	UTSW	6	120,863,982 (GRCm39)	missense	possibly damaging	0.86
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'- CCTTCTAGTCTTGAGAATGAAACTG -3'
(R):5'- TTGGACAGCCAGGGTTACAG -3'

Sequencing Primer
(F):5'- CTAGTCTTGAGAATGAAACTGACTTG -3'
(R):5'- CAGCCAGGGTTACAGAGAAACTC -3'

Posted On

2016-10-06