Mutagenetix > Incidental Mutation

Incidental Mutation 'R2511:Bcl2a1a'

252962

Institutional Source

Beutler Lab

Gene Symbol

Bcl2a1a

Ensembl Gene

ENSMUSG00000102037

Gene Name

B cell leukemia/lymphoma 2 related protein A1a

Synonyms

A1, Hbpa1, Bcl2a1, Bfl-1

MMRRC Submission

040417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88956900-88962419 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88957453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 135 (R135W)

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 damaging
Transcript: ENSMUST00000098485
AA Change: R135W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037
AA Change: R135W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,221,906 (GRCm38)	C100S	probably damaging	Het
Abcc8	C	T	7: 46,150,780 (GRCm38)	R526H	probably damaging	Het
Acad10	G	A	5: 121,631,567 (GRCm38)	P609S	probably benign	Het
Acod1	A	T	14: 103,051,339 (GRCm38)	D95V	probably damaging	Het
Acsm5	A	T	7: 119,530,454 (GRCm38)	I130F	possibly damaging	Het
Ago4	A	T	4: 126,517,071 (GRCm38)	D208E	probably damaging	Het
Agrn	A	T	4: 156,166,424 (GRCm38)		probably null	Het
Ankar	A	T	1: 72,658,694 (GRCm38)	I791K	probably damaging	Het
Ano10	A	G	9: 122,258,945 (GRCm38)	V364A	probably damaging	Het
Arhgap9	T	C	10: 127,328,985 (GRCm38)		probably null	Het
Arsi	G	A	18: 60,916,594 (GRCm38)	C183Y	probably damaging	Het
Ascl2	T	G	7: 142,968,216 (GRCm38)	E97A	probably damaging	Het
Bms1	C	T	6: 118,391,153 (GRCm38)		probably null	Het
Bysl	T	A	17: 47,604,335 (GRCm38)	T163S	probably benign	Het
Card10	A	G	15: 78,780,273 (GRCm38)	I821T	probably benign	Het
Cc2d2a	A	T	5: 43,735,395 (GRCm38)	Q1433L	probably damaging	Het
Cchcr1	T	C	17: 35,530,513 (GRCm38)	S809P	probably benign	Het
Ccz1	G	T	5: 144,012,997 (GRCm38)	T70K	probably damaging	Het
Cdc25c	G	C	18: 34,738,239 (GRCm38)	L275V	probably damaging	Het
Cep164	A	T	9: 45,775,249 (GRCm38)	L729Q	probably damaging	Het
Clcn6	A	G	4: 148,017,494 (GRCm38)		probably null	Het
Clcn7	T	A	17: 25,155,446 (GRCm38)	V507E	probably damaging	Het
Cracdl	T	C	1: 37,625,300 (GRCm38)	M506V	probably benign	Het
Ctso	A	C	3: 81,932,734 (GRCm38)	T24P	probably damaging	Het
Dis3l2	A	T	1: 86,990,258 (GRCm38)	N543I	probably benign	Het
Dnah12	A	T	14: 26,769,950 (GRCm38)	Y1114F	possibly damaging	Het
Emx1	A	G	6: 85,204,051 (GRCm38)	D250G	probably benign	Het
Epha4	G	A	1: 77,511,702 (GRCm38)	A47V	possibly damaging	Het
Fam149b	A	C	14: 20,378,456 (GRCm38)	N341T	probably damaging	Het
Fsip2	A	G	2: 82,951,657 (GRCm38)	K62R	probably damaging	Het
Fsip2	T	C	2: 82,986,438 (GRCm38)	S4172P	probably benign	Het
Gbp3	A	G	3: 142,570,582 (GRCm38)	R480G	probably benign	Het
Get3	A	G	8: 85,019,766 (GRCm38)	V151A	possibly damaging	Het
Gja8	T	G	3: 96,919,717 (GRCm38)	T210P	probably damaging	Het
Gm5431	T	A	11: 48,888,709 (GRCm38)	N740I	probably benign	Het
Gm9930	T	C	10: 9,534,702 (GRCm38)		noncoding transcript	Het
Gstt4	C	T	10: 75,815,125 (GRCm38)	C221Y	probably benign	Het
Gzmg	A	T	14: 56,158,375 (GRCm38)	D42E	probably benign	Het
Hoxd12	G	A	2: 74,675,471 (GRCm38)	A129T	possibly damaging	Het
Hs2st1	G	A	3: 144,569,930 (GRCm38)		probably benign	Het
Ifnlr1	G	T	4: 135,705,248 (GRCm38)	D332Y	probably damaging	Het
Igsf10	T	C	3: 59,331,866 (GRCm38)	D298G	probably damaging	Het
Irf1	T	C	11: 53,773,791 (GRCm38)	V108A	probably damaging	Het
Jsrp1	C	G	10: 80,812,306 (GRCm38)	S36T	probably benign	Het
Kcnq5	T	A	1: 21,505,782 (GRCm38)	R233*	probably null	Het
Kif7	T	C	7: 79,702,264 (GRCm38)	K917E	probably damaging	Het
Krt7	A	C	15: 101,412,657 (GRCm38)	I62L	probably benign	Het
Lifr	A	G	15: 7,166,916 (GRCm38)	T194A	probably benign	Het
Ltbp2	T	C	12: 84,804,409 (GRCm38)		probably null	Het
Maco1	A	G	4: 134,804,388 (GRCm38)	S657P	probably damaging	Het
Man2c1	A	G	9: 57,141,388 (GRCm38)		probably null	Het
Met	T	C	6: 17,491,967 (GRCm38)	S243P	probably damaging	Het
Mllt10	C	A	2: 18,065,124 (GRCm38)	D30E	possibly damaging	Het
Mre11a	A	C	9: 14,795,769 (GRCm38)		probably null	Het
Mroh9	A	G	1: 163,038,945 (GRCm38)	S710P	probably benign	Het
Mvk	C	A	5: 114,450,398 (GRCm38)	Y116*	probably null	Het
Myh1	A	G	11: 67,205,597 (GRCm38)	I301V	probably benign	Het
Ncf1	T	C	5: 134,225,698 (GRCm38)	D184G	probably damaging	Het
Nxpe4	T	C	9: 48,393,233 (GRCm38)	F207L	probably damaging	Het
Or2ag18	G	T	7: 106,805,961 (GRCm38)	P167H	probably damaging	Het
Or2y1b	T	G	11: 49,318,221 (GRCm38)	L225R	probably damaging	Het
Or4k51	T	A	2: 111,754,316 (GRCm38)	N22K	probably benign	Het
Or52b1	A	T	7: 105,329,610 (GRCm38)	I194N	probably damaging	Het
Or5b24	T	A	19: 12,935,173 (GRCm38)	M145K	possibly damaging	Het
Or5w14	T	C	2: 87,711,048 (GRCm38)	N286S	probably damaging	Het
Pcdh1	G	A	18: 38,199,479 (GRCm38)	T296M	possibly damaging	Het
Pcdh15	A	G	10: 74,645,996 (GRCm38)	D391G	possibly damaging	Het
Pcdha7	C	A	18: 36,974,733 (GRCm38)	D270E	probably damaging	Het
Pgam1	C	A	19: 41,915,876 (GRCm38)	S137R	probably damaging	Het
Pitpnm2	T	C	5: 124,136,326 (GRCm38)	E240G	probably damaging	Het
Plce1	T	G	19: 38,760,054 (GRCm38)	I1729S	probably damaging	Het
Plppr4	G	T	3: 117,331,706 (GRCm38)	N161K	probably damaging	Het
Pramel27	G	A	4: 143,851,991 (GRCm38)	V274I	probably benign	Het
Prkce	T	A	17: 86,625,326 (GRCm38)	I578N	probably damaging	Het
Prss58	A	C	6: 40,897,800 (GRCm38)	S36A	probably damaging	Het
Ptprm	T	C	17: 66,693,778 (GRCm38)	H1128R	probably damaging	Het
Rgs9	T	C	11: 109,268,972 (GRCm38)	Y178C	probably benign	Het
Rubcn	T	C	16: 32,847,254 (GRCm38)	N179S	probably damaging	Het
Sh3bp1	C	T	15: 78,911,506 (GRCm38)	P612S	probably damaging	Het
Sh3bp5	G	A	14: 31,411,629 (GRCm38)	T82M	probably damaging	Het
Shank2	A	G	7: 144,411,577 (GRCm38)	Y974C	probably damaging	Het
Slc9c1	T	C	16: 45,544,736 (GRCm38)	I144T	possibly damaging	Het
Slf2	T	C	19: 44,941,606 (GRCm38)	I374T	possibly damaging	Het
Snx13	A	G	12: 35,138,081 (GRCm38)	D786G	probably benign	Het
Spcs3	A	G	8: 54,523,354 (GRCm38)	V151A	possibly damaging	Het
Sstr2	A	T	11: 113,624,923 (GRCm38)	I223F	probably damaging	Het
Stac3	T	C	10: 127,503,918 (GRCm38)		probably null	Het
Tas1r2	A	G	4: 139,659,851 (GRCm38)	N207S	probably damaging	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Tgm5	T	C	2: 121,076,948 (GRCm38)	E98G	possibly damaging	Het
Tktl2	A	G	8: 66,512,852 (GRCm38)	E354G	probably benign	Het
Tmem94	G	A	11: 115,791,961 (GRCm38)	R608H	probably damaging	Het
Tnrc6a	G	A	7: 123,171,092 (GRCm38)	V702I	probably damaging	Het
Trappc10	A	G	10: 78,211,523 (GRCm38)	S380P	possibly damaging	Het
Trim24	G	A	6: 37,903,652 (GRCm38)		probably null	Het
Ugt1a2	A	G	1: 88,201,124 (GRCm38)	Y163C	probably damaging	Het
Vmn1r215	A	G	13: 23,076,173 (GRCm38)	I128V	probably benign	Het
Vmn2r50	T	A	7: 10,047,713 (GRCm38)	E368D	possibly damaging	Het
Vmn2r59	T	C	7: 42,043,766 (GRCm38)	N470S	probably damaging	Het
Vps45	T	C	3: 96,041,445 (GRCm38)	T333A	probably benign	Het
Zbtb44	T	A	9: 31,054,243 (GRCm38)	D316E	probably damaging	Het
Zdhhc1	C	T	8: 105,483,558 (GRCm38)	V76M	probably benign	Het
Zfp235	T	C	7: 24,142,124 (GRCm38)	F656S	probably damaging	Het

Other mutations in Bcl2a1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Bcl2a1a	APN	9	88,957,447 (GRCm38)	missense	probably damaging	1.00
IGL02942:Bcl2a1a	APN	9	88,957,042 (GRCm38)	utr 5 prime	probably benign
R0064:Bcl2a1a	UTSW	9	88,957,463 (GRCm38)	missense	probably damaging	1.00
R1672:Bcl2a1a	UTSW	9	88,957,450 (GRCm38)	missense	probably damaging	1.00
R4616:Bcl2a1a	UTSW	9	88,957,453 (GRCm38)	missense	probably damaging	1.00
R4618:Bcl2a1a	UTSW	9	88,957,304 (GRCm38)	missense	probably damaging	1.00
R4947:Bcl2a1a	UTSW	9	88,957,282 (GRCm38)	missense	probably damaging	1.00
R7584:Bcl2a1a	UTSW	9	88,957,292 (GRCm38)	missense	probably damaging	1.00
R8867:Bcl2a1a	UTSW	9	88,957,450 (GRCm38)	missense	probably damaging	1.00
R8900:Bcl2a1a	UTSW	9	88,957,258 (GRCm38)	missense	probably benign	0.17
R9685:Bcl2a1a	UTSW	9	88,957,132 (GRCm38)	missense	probably benign	0.00
Z1177:Bcl2a1a	UTSW	9	88,957,466 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTTTCACGTGGAATCCATAGATAC -3'
(R):5'- GCCATTGGAAATGACCCAGG -3'

Sequencing Primer
(F):5'- GGAATCCATAGATACCGCCAG -3'
(R):5'- GAAATGACCCAGGGGATTTTTG -3'

Posted On

2014-12-04