Mutagenetix > Incidental Mutation

Incidental Mutation 'R3437:Bad'

267259

Institutional Source

Beutler Lab

Gene Symbol

Bad

Ensembl Gene

ENSMUSG00000024959

Gene Name

BCL2-associated agonist of cell death

Synonyms

Bbc2

MMRRC Submission

040655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R3437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6919229-6929267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6919799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 37 (R37G)

Ref Sequence

ENSEMBL: ENSMUSP00000109053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025909] [ENSMUST00000025910] [ENSMUST00000099774] [ENSMUST00000099776] [ENSMUST00000099782] [ENSMUST00000113423] [ENSMUST00000113426] [ENSMUST00000166115]

AlphaFold

Q61337

Predicted Effect

probably benign
Transcript: ENSMUST00000025909

SMART Domains

Protein: ENSMUSP00000025909
Gene: ENSMUSG00000024958

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
transmembrane domain	273	295	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025910
AA Change: R37G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025910
Gene: ENSMUSG00000024959
AA Change: R37G

Domain	Start	End	E-Value	Type
Pfam:Bcl-2_BAD	43	204	5e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099774

SMART Domains

Protein: ENSMUSP00000097362
Gene: ENSMUSG00000024958

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
transmembrane domain	91	113	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099776

SMART Domains

Protein: ENSMUSP00000097364
Gene: ENSMUSG00000024958

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
transmembrane domain	26	48	N/A	INTRINSIC
transmembrane domain	61	80	N/A	INTRINSIC
transmembrane domain	95	117	N/A	INTRINSIC
transmembrane domain	129	151	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099782

SMART Domains

Protein: ENSMUSP00000097370
Gene: ENSMUSG00000024958

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	65	76	N/A	INTRINSIC
low complexity region	78	90	N/A	INTRINSIC
transmembrane domain	122	144	N/A	INTRINSIC
transmembrane domain	162	184	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC
transmembrane domain	259	281	N/A	INTRINSIC
low complexity region	324	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113423

SMART Domains

Protein: ENSMUSP00000109050
Gene: ENSMUSG00000024959

Domain	Start	End	E-Value	Type
Pfam:Bcl-2_BAD	1	162	9.1e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113426
AA Change: R37G

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109053
Gene: ENSMUSG00000024959
AA Change: R37G

Domain	Start	End	E-Value	Type
Pfam:Bcl-2_BAD	43	172	5.7e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166115

SMART Domains

Protein: ENSMUSP00000130969
Gene: ENSMUSG00000024958

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
transmembrane domain	273	295	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141410

SMART Domains

Protein: ENSMUSP00000114597
Gene: ENSMUSG00000024959

Domain	Start	End	E-Value	Type
Pfam:Bcl-2_BAD	1	134	2.9e-62	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal and fertile. Both T and B cells show increased sensitivity to gamma irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,616,253 (GRCm39)	L127R	probably null	Het
Ambp	T	C	4: 63,067,721 (GRCm39)	E163G	probably benign	Het
Amy1	G	A	3: 113,349,658 (GRCm39)	A504V	probably damaging	Het
Angptl3	A	T	4: 98,921,540 (GRCm39)	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,468,255 (GRCm39)	N86S	probably benign	Het
Avl9	T	C	6: 56,713,612 (GRCm39)	V290A	probably benign	Het
Bicra	T	C	7: 15,723,223 (GRCm39)	D98G	possibly damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Col4a4	G	A	1: 82,474,889 (GRCm39)	T650M	unknown	Het
Cyp11b2	T	C	15: 74,727,298 (GRCm39)	R128G	probably benign	Het
Dst	T	C	1: 34,229,303 (GRCm39)	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,178,595 (GRCm39)	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057 (GRCm38)	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,779,217 (GRCm39)	H221Q	probably benign	Het
Homer1	T	C	13: 93,502,929 (GRCm39)		probably benign	Het
Kit	A	G	5: 75,806,565 (GRCm39)	D690G	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mc3r	C	T	2: 172,091,588 (GRCm39)	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,239,314 (GRCm39)	L204W	probably damaging	Het
Mroh1	C	T	15: 76,317,808 (GRCm39)	T839I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or2n1d	A	G	17: 38,646,323 (GRCm39)	I92V	probably damaging	Het
Or5af1	A	T	11: 58,722,150 (GRCm39)	M57L	probably damaging	Het
P4ha3	C	T	7: 99,934,831 (GRCm39)	A31V	possibly damaging	Het
Plch2	A	G	4: 155,075,470 (GRCm39)		probably null	Het
Plpp2	A	T	10: 79,363,647 (GRCm39)		probably null	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Pter	T	A	2: 13,005,805 (GRCm39)	L326H	probably benign	Het
Pwwp2a	C	T	11: 43,597,015 (GRCm39)	Q452*	probably null	Het
Slc8a2	T	G	7: 15,892,810 (GRCm39)	V824G	probably damaging	Het
Slfn2	A	T	11: 82,960,390 (GRCm39)	H123L	probably benign	Het
Tmem132e	A	G	11: 82,335,156 (GRCm39)	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739 (GRCm39)	V100I	possibly damaging	Het
Tro	G	A	X: 149,429,252 (GRCm39)		probably benign	Het
Uspl1	T	A	5: 149,151,507 (GRCm39)		probably benign	Het
Uty	A	G	Y: 1,158,336 (GRCm39)	I522T	probably benign	Het
Vmn1r120	A	C	7: 20,787,582 (GRCm39)	L43W	probably damaging	Het
Vmn2r16	A	T	5: 109,478,362 (GRCm39)	D39V	probably damaging	Het
Washc4	T	A	10: 83,405,866 (GRCm39)	I454N	probably benign	Het
Wnt16	T	C	6: 22,298,133 (GRCm39)	V333A	probably damaging	Het
Ylpm1	T	C	12: 85,096,644 (GRCm39)		probably null	Het
Zfy1	A	T	Y: 726,357 (GRCm39)	D469E	possibly damaging	Het

Other mutations in Bad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02426:Bad	APN	19	6,928,785 (GRCm39)	missense	probably damaging	1.00
R4419:Bad	UTSW	19	6,928,053 (GRCm39)	missense	probably benign	0.14
R6662:Bad	UTSW	19	6,928,438 (GRCm39)	intron	probably benign
R6886:Bad	UTSW	19	6,928,702 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTTACAGAGTTTTCACCAGCTCCC -3'
(R):5'- GAATAGGTCTCACCCCAAGC -3'

Sequencing Primer
(F):5'- CCCCATTTTACAGGAGGGAATTCG -3'
(R):5'- ATCTCGAGGCCCCTGAC -3'

Posted On

2015-02-18