Mutagenetix > Incidental Mutation

Incidental Mutation 'R3932:Bcl2l14'

308499

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l14

Ensembl Gene

ENSMUSG00000030200

Gene Name

BCL2 like 14

Synonyms

9030625M01Rik, 4930452K23Rik, Bcl-G, 4933405K19Rik

MMRRC Submission

040919-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3932 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134373292-134415687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134400771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

Ref Sequence

ENSEMBL: ENSMUSP00000132525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032321] [ENSMUST00000111960] [ENSMUST00000127865] [ENSMUST00000163589]

AlphaFold

Q9CPT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032321
AA Change: D64G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032321
Gene: ENSMUSG00000030200
AA Change: D64G

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
SCOP:d1maz__	200	320	5e-23	SMART
Blast:BCL	217	316	4e-43	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000111960
AA Change: D64G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107591
Gene: ENSMUSG00000030200
AA Change: D64G

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
SCOP:d1maz__	200	320	5e-23	SMART
Blast:BCL	217	316	4e-43	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127865
AA Change: D64G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115608
Gene: ENSMUSG00000030200
AA Change: D64G

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142612

Predicted Effect

probably damaging
Transcript: ENSMUST00000163589
AA Change: D64G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132525
Gene: ENSMUSG00000030200
AA Change: D64G

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
SCOP:d1maz__	200	320	5e-23	SMART
Blast:BCL	217	316	4e-43	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205104

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arl1	C	T	10: 88,569,398 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10a	T	C	7: 58,476,852 (GRCm39)	M1189T	possibly damaging	Het
Cdc34b	G	A	11: 94,633,441 (GRCm39)	V214M	probably benign	Het
Cfap54	T	C	10: 92,665,619 (GRCm39)	T2985A	probably benign	Het
Clcc1	T	C	3: 108,580,682 (GRCm39)	M332T	probably damaging	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Ctdnep1	A	G	11: 69,880,400 (GRCm39)		probably benign	Het
Edar	C	T	10: 58,446,164 (GRCm39)	C221Y	probably damaging	Het
Fam135b	T	A	15: 71,322,280 (GRCm39)	Q1295L	probably benign	Het
Fam184a	C	T	10: 53,575,397 (GRCm39)	A71T	probably damaging	Het
Fbxw10	A	G	11: 62,759,983 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,542,071 (GRCm39)	W247R	probably damaging	Het
Gcn1	A	G	5: 115,725,893 (GRCm39)	H553R	probably benign	Het
Grin3a	C	T	4: 49,672,472 (GRCm39)		probably null	Het
H2-Q6	C	T	17: 35,644,542 (GRCm39)		probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Med10	A	G	13: 69,958,101 (GRCm39)	N18D	probably damaging	Het
Mgat4b	T	A	11: 50,124,165 (GRCm39)	H368Q	possibly damaging	Het
Morn5	C	A	2: 35,943,035 (GRCm39)	T45N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msl3	C	T	X: 167,454,813 (GRCm39)	A87T	probably damaging	Het
Myrf	T	C	19: 10,195,515 (GRCm39)	T432A	probably damaging	Het
Nalf2	G	A	X: 98,865,470 (GRCm39)	V266M	possibly damaging	Het
Nav3	T	A	10: 109,529,896 (GRCm39)	E2148D	probably damaging	Het
Nfe2l3	A	G	6: 51,433,595 (GRCm39)	T236A	possibly damaging	Het
Odc1	T	A	12: 17,598,801 (GRCm39)	F227Y	probably benign	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or5b21	T	C	19: 12,839,994 (GRCm39)	M285T	possibly damaging	Het
Pdcd1	T	C	1: 93,968,989 (GRCm39)	I110V	probably benign	Het
Pde5a	G	A	3: 122,554,545 (GRCm39)	E212K	probably damaging	Het
Plin4	A	G	17: 56,413,704 (GRCm39)	I307T	probably benign	Het
Rag1	T	C	2: 101,473,384 (GRCm39)	Y586C	probably damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rgs9	A	G	11: 109,166,639 (GRCm39)		probably benign	Het
Rin3	A	G	12: 102,356,342 (GRCm39)	D961G	probably damaging	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Slc13a2	T	A	11: 78,289,226 (GRCm39)	Y495F	probably damaging	Het
Tfec	T	A	6: 16,845,458 (GRCm39)	D67V	probably damaging	Het
Tmem94	T	C	11: 115,680,080 (GRCm39)	M30T	probably benign	Het
Tsbp1	A	G	17: 34,662,417 (GRCm39)	T86A	possibly damaging	Het
Tubgcp6	A	G	15: 88,988,617 (GRCm39)		probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r85	T	C	10: 130,254,336 (GRCm39)	M783V	probably damaging	Het
Zfp422	T	C	6: 116,603,420 (GRCm39)	K193R	probably benign	Het
Zfp94	T	G	7: 24,003,112 (GRCm39)	D110A	probably benign	Het

Other mutations in Bcl2l14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Bcl2l14	APN	6	134,400,828 (GRCm39)	missense	probably damaging	1.00
IGL02451:Bcl2l14	APN	6	134,400,804 (GRCm39)	missense	probably benign	0.18
R1115:Bcl2l14	UTSW	6	134,409,102 (GRCm39)	splice site	probably benign
R1482:Bcl2l14	UTSW	6	134,404,265 (GRCm39)	missense	probably damaging	1.00
R1952:Bcl2l14	UTSW	6	134,409,329 (GRCm39)	missense	probably damaging	1.00
R3933:Bcl2l14	UTSW	6	134,400,771 (GRCm39)	missense	probably damaging	0.98
R5772:Bcl2l14	UTSW	6	134,404,362 (GRCm39)	missense	probably damaging	0.98
R6295:Bcl2l14	UTSW	6	134,404,370 (GRCm39)	missense	probably benign	0.40
R7078:Bcl2l14	UTSW	6	134,400,786 (GRCm39)	missense	probably damaging	0.98
R7496:Bcl2l14	UTSW	6	134,404,417 (GRCm39)	missense	probably benign	0.00
R7785:Bcl2l14	UTSW	6	134,409,223 (GRCm39)	missense	possibly damaging	0.96
R7792:Bcl2l14	UTSW	6	134,409,277 (GRCm39)	missense	possibly damaging	0.84
R7949:Bcl2l14	UTSW	6	134,407,083 (GRCm39)	missense	probably damaging	1.00
R8474:Bcl2l14	UTSW	6	134,400,720 (GRCm39)	missense	probably benign	0.07
R8907:Bcl2l14	UTSW	6	134,400,585 (GRCm39)	missense	probably damaging	1.00
R8990:Bcl2l14	UTSW	6	134,400,630 (GRCm39)	missense	probably damaging	1.00
X0062:Bcl2l14	UTSW	6	134,404,334 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAGTGTGTATGACCTGGAAG -3'
(R):5'- AGAGCTGTTCACAAGCCTACC -3'

Sequencing Primer
(F):5'- GACATTCCCCTGGAGGATGATGATC -3'
(R):5'- TGCTCCACACTGCTCAGAG -3'

Posted On

2015-04-17