Mutagenetix > Incidental Mutation

Incidental Mutation 'R8907:Bcl2l14'

678444

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l14

Ensembl Gene

ENSMUSG00000030200

Gene Name

BCL2 like 14

Synonyms

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

MMRRC Submission

068763-MU

Accession Numbers

Essential gene?

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

Stock #

R8907 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134373292-134415687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134400585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 2 (C2Y)

Ref Sequence

ENSEMBL: ENSMUSP00000032321 (fasta)

Gene Model

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

AlphaFold

Q9CPT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032321
AA Change: C2Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032321
Gene: ENSMUSG00000030200
AA Change: C2Y

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: C2Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107591
Gene: ENSMUSG00000030200
AA Change: C2Y

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: ENSMUST00000127865
AA Change: C2Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115608
Gene: ENSMUSG00000030200
AA Change: C2Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163589
AA Change: C2Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132525
Gene: ENSMUSG00000030200
AA Change: C2Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,398 (GRCm39)	I73V	probably damaging	Het
Agap3	T	C	5: 24,679,629 (GRCm39)	I109T	probably benign	Het
Ahnak	G	A	19: 8,986,452 (GRCm39)	V2579M	probably benign	Het
Akap13	T	C	7: 75,260,444 (GRCm39)	S220P	probably benign	Het
Akap13	C	G	7: 75,260,456 (GRCm39)	P224A	probably damaging	Het
Alpk1	G	A	3: 127,474,642 (GRCm39)	Q454*	probably null	Het
Asrgl1	C	T	19: 9,090,506 (GRCm39)	G280D	probably damaging	Het
Atp6v0d1	TTCTTACCTC	T	8: 106,251,782 (GRCm39)		probably benign	Het
Atxn2l	T	A	7: 126,099,425 (GRCm39)	D204V	probably damaging	Het
B430306N03Rik	T	C	17: 48,628,100 (GRCm39)	Y177H	probably damaging	Het
Bltp1	T	A	3: 37,002,295 (GRCm39)	Y1413*	probably null	Het
Bphl	A	T	13: 34,230,930 (GRCm39)	M125L	possibly damaging	Het
Cdh10	A	T	15: 19,013,521 (GRCm39)	N707I	probably damaging	Het
Ceacam1	T	A	7: 25,171,444 (GRCm39)	D340V	possibly damaging	Het
Cklf	G	A	8: 104,977,671 (GRCm39)	V8I	probably benign	Het
Cln5	A	G	14: 103,310,711 (GRCm39)	N126S	probably damaging	Het
Col5a2	A	T	1: 45,456,106 (GRCm39)	M327K	probably benign	Het
Col6a6	A	T	9: 105,644,528 (GRCm39)	F1253L	probably damaging	Het
Crb2	G	A	2: 37,685,395 (GRCm39)	S1169N	probably benign	Het
Cspg4	A	T	9: 56,790,967 (GRCm39)	D72V	probably damaging	Het
Ctnnd2	C	T	15: 30,905,873 (GRCm39)	P840L	probably damaging	Het
Eea1	T	C	10: 95,826,274 (GRCm39)	Y105H	probably damaging	Het
Epha4	A	C	1: 77,483,422 (GRCm39)	S196A	probably damaging	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Fcamr	G	T	1: 130,740,328 (GRCm39)	G249V	probably damaging	Het
Fdxacb1	C	T	9: 50,681,451 (GRCm39)	T124I	probably damaging	Het
Fmn1	T	G	2: 113,355,914 (GRCm39)	L883R	unknown	Het
Frmd4b	T	C	6: 97,273,046 (GRCm39)	N782S	probably damaging	Het
Frmpd2	T	G	14: 33,248,380 (GRCm39)	C621W	probably damaging	Het
Fsip2	T	A	2: 82,816,984 (GRCm39)	V4239D	probably benign	Het
Gcnt4	A	G	13: 97,083,844 (GRCm39)	Y380C	probably damaging	Het
Gm7298	T	C	6: 121,741,817 (GRCm39)	V413A	probably benign	Het
Gstp3	C	T	19: 4,108,145 (GRCm39)	V93M	possibly damaging	Het
Helz2	A	T	2: 180,874,920 (GRCm39)	M1858K	possibly damaging	Het
Ighv1-7	T	A	12: 114,502,353 (GRCm39)	K38M	probably damaging	Het
Klri1	T	C	6: 129,680,283 (GRCm39)	K124R	probably null	Het
Kmt2c	A	T	5: 25,514,609 (GRCm39)	F3078Y	probably damaging	Het
Map4k4	C	T	1: 40,058,770 (GRCm39)	P988L	probably damaging	Het
Mmrn1	G	A	6: 60,953,077 (GRCm39)	E453K	probably damaging	Het
Muc5b	T	A	7: 141,417,875 (GRCm39)	V3607E	probably benign	Het
Myo15a	T	A	11: 60,417,434 (GRCm39)	I3461N		Het
Ngef	G	A	1: 87,405,376 (GRCm39)	S678F	probably damaging	Het
Npc1l1	A	T	11: 6,178,157 (GRCm39)	S418T	probably benign	Het
Nprl2	A	G	9: 107,421,995 (GRCm39)	D257G	probably damaging	Het
Or4c113	A	T	2: 88,885,542 (GRCm39)	V76D	probably damaging	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Pcf11	T	C	7: 92,302,451 (GRCm39)	T1220A	probably benign	Het
Pkhd1	T	C	1: 20,187,785 (GRCm39)	I3508V	possibly damaging	Het
Ppargc1a	A	T	5: 51,647,570 (GRCm39)	S258T	probably damaging	Het
Prom1	A	G	5: 44,159,135 (GRCm39)	Y830H	probably damaging	Het
Ptprm	T	A	17: 67,051,732 (GRCm39)	H1001L	probably damaging	Het
Rab8b	A	G	9: 66,826,807 (GRCm39)	F37L	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Sdk1	A	T	5: 142,070,278 (GRCm39)	I1148F	probably damaging	Het
Sec62	A	G	3: 30,864,621 (GRCm39)	K162E	unknown	Het
Serpinb13	A	T	1: 106,928,519 (GRCm39)	I380F	probably damaging	Het
Sptb	T	C	12: 76,634,186 (GRCm39)	D2175G	probably benign	Het
St3gal6	T	C	16: 58,314,095 (GRCm39)	I13V	probably benign	Het
Tfpi2	A	T	6: 3,967,996 (GRCm39)	L48H	probably damaging	Het
Tmem121b	T	A	6: 120,469,707 (GRCm39)	I337F	probably damaging	Het
Tpbgl	T	C	7: 99,275,182 (GRCm39)	D225G	probably benign	Het
Trpa1	A	G	1: 14,959,664 (GRCm39)	V674A	probably benign	Het
Trpa1	A	G	1: 14,963,563 (GRCm39)	L553P	probably damaging	Het
Tyrp1	T	C	4: 80,755,798 (GRCm39)	V189A	probably damaging	Het
Vmn1r19	G	T	6: 57,381,991 (GRCm39)	M181I	probably benign	Het
Vmn2r10	T	C	5: 109,149,791 (GRCm39)	T418A	probably benign	Het
Zfp617	A	G	8: 72,686,927 (GRCm39)	Y419C	probably damaging	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
R3932:Bcl2l14	UTSW	6	134,400,771 (GRCm39)	missense	probably damaging	0.98
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
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'- CGTCCCAGTATAACCCTAAGCTG -3'
(R):5'- AATCAGTTGACCAAGTCCCC -3'

Sequencing Primer
(F):5'- AAGCTGGCCTCCAACTTGTTAAG -3'
(R):5'- AAGTCCCCAGGGCTTTCTG -3'

Posted On

2021-08-02