Mutagenetix > Incidental Mutation

Incidental Mutation 'W0251:Bcl2a1b'

166608

Institutional Source

Beutler Lab

Gene Symbol

Bcl2a1b

Ensembl Gene

ENSMUSG00000089929

Gene Name

B cell leukemia/lymphoma 2 related protein A1b

Synonyms

A1-b

Accession Numbers

Essential gene?

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

Stock #

W0251 (G3R) of strain daniel_gray

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

89081326-89089891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89081636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 75 (M75K)

Ref Sequence

ENSEMBL: ENSMUSP00000065612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068569]

AlphaFold

Q497M6

Predicted Effect

probably damaging
Transcript: ENSMUST00000068569
AA Change: M75K

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

SMART Domains

Protein: ENSMUSP00000065612
Gene: ENSMUSG00000089929
AA Change: M75K

Domain	Start	End	E-Value	Type
BCL	37	140	5.55e-40	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000138109
AA Change: M68K

SMART Domains

Protein: ENSMUSP00000119881
Gene: ENSMUSG00000100838
AA Change: M68K

Domain	Start	End	E-Value	Type
BCL	31	134	5.55e-40	SMART
PDB:3HY6\|A	135	221	4e-49	PDB

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btaf1	G	A	19: 36,980,904 (GRCm39)	R1575H	probably damaging	Het
Cfap46	T	C	7: 139,183,862 (GRCm39)	M2507V	probably benign	Het
Dcc	T	C	18: 71,959,154 (GRCm39)	D206G	probably damaging	Het
Dnah6	T	A	6: 73,155,501 (GRCm39)	I705F	possibly damaging	Het
Entpd1	A	T	19: 40,714,697 (GRCm39)	I269F	probably damaging	Het
Gm4559	G	C	7: 141,827,535 (GRCm39)	A189G	unknown	Het
Ipo5	T	A	14: 121,176,197 (GRCm39)	M648K	probably benign	Het
Kdelr1	A	G	7: 45,531,045 (GRCm39)	Y96C	probably damaging	Het
Mmp17	C	T	5: 129,672,591 (GRCm39)	A181V	probably benign	Het
Muc20	T	C	16: 32,614,223 (GRCm39)	I385V	possibly damaging	Het
Or13c7	C	T	4: 43,855,058 (GRCm39)	L250F	probably benign	Het
Pik3r6	A	G	11: 68,424,697 (GRCm39)	Y434C	probably benign	Het
Pura	T	C	18: 36,420,843 (GRCm39)	V210A	probably benign	Het
Spic	C	T	10: 88,515,766 (GRCm39)	D19N	probably damaging	Het

Other mutations in Bcl2a1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0379:Bcl2a1b	UTSW	9	89,081,789 (GRCm39)	missense	possibly damaging	0.95
R1307:Bcl2a1b	UTSW	9	89,081,543 (GRCm39)	missense	probably damaging	0.99
R2402:Bcl2a1b	UTSW	9	89,081,795 (GRCm39)	missense	probably benign	0.06
R4898:Bcl2a1b	UTSW	9	89,081,713 (GRCm39)	nonsense	probably null
R5098:Bcl2a1b	UTSW	9	89,081,432 (GRCm39)	missense	probably benign	0.00
R5710:Bcl2a1b	UTSW	9	89,081,732 (GRCm39)	missense	probably benign	0.01
R6594:Bcl2a1b	UTSW	9	89,089,647 (GRCm39)	missense	probably benign
R7059:Bcl2a1b	UTSW	9	89,081,813 (GRCm39)	missense	probably damaging	1.00
R9657:Bcl2a1b	UTSW	9	89,081,599 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATATCCACTCCCTGGCTGAGCAC -3'
(R):5'- TTTCAAGTAGAGGCCATTGGAAAGGAC -3'

Sequencing Primer
(F):5'- GGCTGAGCACTATCTTCAGTATG -3'
(R):5'- CAGACTGAAGTCCTTTGATTGTTAC -3'

Posted On

2014-04-13