Mutagenetix > Incidental Mutation

Incidental Mutation 'R5772:Bcl2l14'

445445

Institutional Source

Beutler Lab

Gene Symbol

Bcl2l14

Ensembl Gene

ENSMUSG00000030200

Gene Name

BCL2 like 14

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134373292-134415687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134404362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 183 (K183N)

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: K183N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032321
Gene: ENSMUSG00000030200
AA Change: K183N

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: K183N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107591
Gene: ENSMUSG00000030200
AA Change: K183N

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 benign
Transcript: ENSMUST00000127865

SMART Domains

Protein: ENSMUSP00000115608
Gene: ENSMUSG00000030200

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: K183N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132525
Gene: ENSMUSG00000030200
AA Change: K183N

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

0.2224

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932416K20Rik	G	A	8: 105,524,271 (GRCm39)		noncoding transcript	Het
Abcg8	A	T	17: 84,994,127 (GRCm39)	E48V	probably damaging	Het
Afap1l2	T	C	19: 56,911,406 (GRCm39)	T289A	probably benign	Het
Atf6	T	A	1: 170,574,758 (GRCm39)	D560V	probably damaging	Het
Carmil3	T	C	14: 55,730,696 (GRCm39)	L52P	probably damaging	Het
Cct3	T	A	3: 88,208,274 (GRCm39)	N61K	probably damaging	Het
Col18a1	A	G	10: 77,002,177 (GRCm39)	V10A	unknown	Het
Col26a1	G	A	5: 136,876,420 (GRCm39)	Q67*	probably null	Het
Cyp2d34	T	C	15: 82,501,341 (GRCm39)	D329G	probably null	Het
Dchs1	T	A	7: 105,422,247 (GRCm39)	I58F	probably damaging	Het
Ddx60	T	C	8: 62,401,931 (GRCm39)	L269P	probably damaging	Het
Dis3l2	G	A	1: 86,806,154 (GRCm39)	G325D	probably damaging	Het
Dync1h1	A	T	12: 110,612,707 (GRCm39)	K2861*	probably null	Het
Ednra	A	G	8: 78,401,696 (GRCm39)	I198T	possibly damaging	Het
Ep300	T	C	15: 81,524,115 (GRCm39)		probably benign	Het
Fam120a	G	A	13: 49,034,409 (GRCm39)	P1068S	probably benign	Het
Fsip2	A	T	2: 82,815,084 (GRCm39)	M3606L	probably benign	Het
Garre1	A	T	7: 33,953,413 (GRCm39)	W238R	probably damaging	Het
Gm7713	T	C	15: 59,866,492 (GRCm39)		noncoding transcript	Het
Gprin3	A	T	6: 59,331,398 (GRCm39)	V303D	possibly damaging	Het
Hmcn1	A	T	1: 150,570,629 (GRCm39)	V2178D	possibly damaging	Het
Hoxa11	A	G	6: 52,222,380 (GRCm39)	V107A	possibly damaging	Het
Iqub	C	A	6: 24,454,250 (GRCm39)	M544I	possibly damaging	Het
Itgb4	A	T	11: 115,879,258 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,161,818 (GRCm39)		probably benign	Het
Kalrn	A	T	16: 33,796,190 (GRCm39)	V1195E	probably damaging	Het
Kif12	C	A	4: 63,084,178 (GRCm39)	R608M	probably damaging	Het
Lcorl	A	T	5: 45,952,709 (GRCm39)		probably null	Het
Lrrc24	T	C	15: 76,606,910 (GRCm39)	E162G	probably damaging	Het
Med6	A	G	12: 81,626,418 (GRCm39)	S119P	probably damaging	Het
Mmab	A	C	5: 114,574,775 (GRCm39)	L166R	probably damaging	Het
Myef2l	A	G	3: 10,153,566 (GRCm39)	R112G	probably damaging	Het
Nom1	A	G	5: 29,651,873 (GRCm39)	K737R	possibly damaging	Het
Obscn	T	C	11: 58,946,970 (GRCm39)	S4352G	probably damaging	Het
Or10ag60	A	T	2: 87,438,517 (GRCm39)	T262S	probably benign	Het
Or2w25	T	A	11: 59,504,712 (GRCm39)	D307E	probably benign	Het
Or4k35	A	T	2: 111,100,057 (GRCm39)	Y218*	probably null	Het
Or6d12	A	C	6: 116,492,912 (GRCm39)	D58A	possibly damaging	Het
Pdzrn3	G	A	6: 101,149,275 (GRCm39)	S351L	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Prkdc	T	A	16: 15,597,252 (GRCm39)	I2804K	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Resp18	A	G	1: 75,250,644 (GRCm39)	V145A	possibly damaging	Het
Rgl3	T	C	9: 21,892,908 (GRCm39)	M259V	probably benign	Het
Rhot2	A	T	17: 26,058,781 (GRCm39)	S540T	probably benign	Het
Ring1	T	C	17: 34,241,282 (GRCm39)	Y278C	possibly damaging	Het
Rpn2	A	G	2: 157,137,265 (GRCm39)	Y216C	probably damaging	Het
Scgb2b18	G	A	7: 32,873,255 (GRCm39)	L5F	unknown	Het
Slamf7	T	C	1: 171,466,838 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,590,479 (GRCm39)	N237S	possibly damaging	Het
Spen	A	T	4: 141,205,495 (GRCm39)	V1044D	unknown	Het
Sqor	A	T	2: 122,651,261 (GRCm39)	M175L	probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tars3	T	G	7: 65,333,873 (GRCm39)	F632V	probably damaging	Het
Tln1	A	G	4: 43,545,191 (GRCm39)	V1008A	probably benign	Het
Tmem145	A	G	7: 25,015,039 (GRCm39)	H554R	probably benign	Het
Trank1	A	T	9: 111,195,744 (GRCm39)	D1256V	possibly damaging	Het
Trbv19	A	G	6: 41,155,794 (GRCm39)	Y55C	possibly damaging	Het
Ttc23l	C	T	15: 10,551,555 (GRCm39)	C57Y	probably benign	Het
Uap1	A	T	1: 169,988,949 (GRCm39)	C158S	probably benign	Het
Zfp353-ps	T	A	8: 42,535,647 (GRCm39)		noncoding transcript	Het
Zfp629	T	A	7: 127,210,307 (GRCm39)	I501F	probably damaging	Het
Zfp820	T	C	17: 22,037,702 (GRCm39)	Y542C	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
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'- CCTTTTATCTGAGGCTGGCC -3'
(R):5'- TCCATCGTGTTGCCTTCAAG -3'

Sequencing Primer
(F):5'- AGGCTGGCCTCTTCATCCTAAAC -3'
(R):5'- CCTTCAAGTGGGCTGAGATTCC -3'

Posted On

2016-11-21