Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02942:Bcl2a1a'

364569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcl2a1a

Ensembl Gene

ENSMUSG00000102037

Gene Name

B cell leukemia/lymphoma 2 related protein A1a

Synonyms

Hbpa1, Bfl-1, A1, Bcl2a1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02942

Quality Score

Status

Chromosome

Chromosomal Location

88838973-88844469 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 88839095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098485]

AlphaFold

Q07440

PDB Structure

STRUCTURE OF MOUSE A1 BOUND TO THE PUMA BH3-DOMAIN [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE A1 BOUND TO THE BMF BH3-DOMAIN [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE A1 BOUND TO THE BAK BH3-DOMAIN [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE A1 BOUND TO THE BID BH3-DOMAIN [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000098485

SMART Domains

Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037

Domain	Start	End	E-Value	Type
BCL	37	140	2.45e-41	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	C	15: 91,033,378 (GRCm39)	D679E	probably damaging	Het
Adh6a	A	T	3: 138,030,642 (GRCm39)	D88V	probably damaging	Het
Ank3	G	A	10: 69,809,707 (GRCm39)	V1123I	probably damaging	Het
Apba1	T	C	19: 23,922,335 (GRCm39)	V801A	possibly damaging	Het
Brd8	A	G	18: 34,743,680 (GRCm39)	V215A	possibly damaging	Het
Cdk17	G	A	10: 93,074,830 (GRCm39)	V454I	probably benign	Het
Chd5	G	A	4: 152,470,182 (GRCm39)	G1876D	probably damaging	Het
Clec4g	T	C	8: 3,768,356 (GRCm39)	E125G	probably damaging	Het
Col24a1	G	A	3: 145,247,420 (GRCm39)	G1602D	probably damaging	Het
Depdc7	A	C	2: 104,558,439 (GRCm39)	L194R	probably damaging	Het
Dgke	T	G	11: 88,946,195 (GRCm39)	N202H	probably benign	Het
Dkk2	T	A	3: 131,883,798 (GRCm39)	C233S	probably damaging	Het
Dmpk	A	C	7: 18,826,166 (GRCm39)	D542A	probably damaging	Het
Epb41l4a	G	A	18: 34,007,254 (GRCm39)	R246W	probably damaging	Het
Frmpd1	A	T	4: 45,285,493 (GRCm39)	Q1438L	probably damaging	Het
Gcgr	A	G	11: 120,427,643 (GRCm39)		probably null	Het
Gm10295	T	C	7: 71,000,250 (GRCm39)	K110R	unknown	Het
Ifrd1	A	G	12: 40,267,375 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,296,624 (GRCm39)	T365A	probably benign	Het
Kcnn3	A	G	3: 89,559,383 (GRCm39)	K551R	probably benign	Het
Lama2	A	T	10: 26,917,216 (GRCm39)	N2236K	probably damaging	Het
Larp7	A	T	3: 127,337,844 (GRCm39)	I405N	possibly damaging	Het
Meltf	C	A	16: 31,709,596 (GRCm39)	Y432*	probably null	Het
Mst1r	C	A	9: 107,790,352 (GRCm39)	T655K	possibly damaging	Het
Myh1	C	T	11: 67,093,308 (GRCm39)	P133L	probably damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or52r1c	A	T	7: 102,735,405 (GRCm39)	M222L	probably benign	Het
Or5b102	A	T	19: 13,041,552 (GRCm39)	Q259L	probably benign	Het
Or6a2	A	G	7: 106,600,561 (GRCm39)	S169P	possibly damaging	Het
Pfkl	A	T	10: 77,835,967 (GRCm39)		probably null	Het
Plekhb2	T	C	1: 34,916,073 (GRCm39)	M204T	probably damaging	Het
Ptp4a2	G	A	4: 129,738,986 (GRCm39)		probably null	Het
Rtp4	A	G	16: 23,431,704 (GRCm39)	T79A	probably benign	Het
Senp3	T	C	11: 69,568,815 (GRCm39)	D410G	probably benign	Het
Slc16a5	T	C	11: 115,360,176 (GRCm39)	F120L	possibly damaging	Het
Snrpe	T	C	1: 133,536,669 (GRCm39)	E37G	probably damaging	Het
Sorcs1	T	C	19: 50,463,875 (GRCm39)	T192A	probably damaging	Het
Spef2	T	A	15: 9,668,960 (GRCm39)	H742L	possibly damaging	Het
Syt12	T	C	19: 4,497,858 (GRCm39)	S375G	probably benign	Het
Tas2r117	T	C	6: 132,780,657 (GRCm39)	L265P	probably benign	Het
Tcp10a	T	A	17: 7,597,318 (GRCm39)	D158E	probably damaging	Het
Tesk2	A	T	4: 116,629,017 (GRCm39)	H122L	probably damaging	Het
Tut7	T	G	13: 59,959,335 (GRCm39)	N378H	probably damaging	Het
Unc93b1	T	A	19: 3,998,686 (GRCm39)	M535K	probably damaging	Het
Vangl1	C	A	3: 102,091,347 (GRCm39)	R246S	probably damaging	Het
Xpo5	C	T	17: 46,519,059 (GRCm39)	T166I	probably damaging	Het
Zmiz2	T	C	11: 6,349,500 (GRCm39)		probably benign	Het

Other mutations in Bcl2a1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Bcl2a1a	APN	9	88,839,500 (GRCm39)	missense	probably damaging	1.00
R0064:Bcl2a1a	UTSW	9	88,839,516 (GRCm39)	missense	probably damaging	1.00
R1672:Bcl2a1a	UTSW	9	88,839,503 (GRCm39)	missense	probably damaging	1.00
R2511:Bcl2a1a	UTSW	9	88,839,506 (GRCm39)	missense	probably damaging	1.00
R4616:Bcl2a1a	UTSW	9	88,839,506 (GRCm39)	missense	probably damaging	1.00
R4618:Bcl2a1a	UTSW	9	88,839,357 (GRCm39)	missense	probably damaging	1.00
R4947:Bcl2a1a	UTSW	9	88,839,335 (GRCm39)	missense	probably damaging	1.00
R7584:Bcl2a1a	UTSW	9	88,839,345 (GRCm39)	missense	probably damaging	1.00
R8867:Bcl2a1a	UTSW	9	88,839,503 (GRCm39)	missense	probably damaging	1.00
R8900:Bcl2a1a	UTSW	9	88,839,311 (GRCm39)	missense	probably benign	0.17
R9685:Bcl2a1a	UTSW	9	88,839,185 (GRCm39)	missense	probably benign	0.00
Z1177:Bcl2a1a	UTSW	9	88,839,519 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18