Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Bak1'

314871

Institutional Source

Beutler Lab

Gene Symbol

Bak1

Ensembl Gene

ENSMUSG00000057789

Gene Name

BCL2-antagonist/killer 1

Synonyms

Bak, N-Bak

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27238786-27247601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27240244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 148 (T148S)

Ref Sequence

ENSEMBL: ENSMUSP00000025034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025034] [ENSMUST00000078691] [ENSMUST00000122106] [ENSMUST00000133257]

AlphaFold

O08734

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025034
AA Change: T148S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025034
Gene: ENSMUSG00000057789
AA Change: T148S

Domain	Start	End	E-Value	Type
SCOP:d1f16a_	15	114	2e-18	SMART
PDB:2M5B\|A	18	126	1e-50	PDB
Blast:BCL	33	66	2e-10	BLAST
Blast:BCL	76	126	2e-20	BLAST
low complexity region	127	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078691
AA Change: Y141F

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077757
Gene: ENSMUSG00000057789
AA Change: Y141F

Domain	Start	End	E-Value	Type
BCL	76	175	2.2e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122106

SMART Domains

Protein: ENSMUSP00000113880
Gene: ENSMUSG00000048731

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Ubiquitin_3	172	260	2.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133257

SMART Domains

Protein: ENSMUSP00000115777
Gene: ENSMUSG00000048731

Domain	Start	End	E-Value	Type
low complexity region	144	157	N/A	INTRINSIC
internal_repeat_1	264	280	1.14e-6	PROSPERO
Pfam:Ubiquitin_3	281	368	1.5e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133448

SMART Domains

Protein: ENSMUSP00000122800
Gene: ENSMUSG00000057789

Domain	Start	End	E-Value	Type
low complexity region	38	51	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142141

Predicted Effect

probably benign
Transcript: ENSMUST00000143158

SMART Domains

Protein: ENSMUSP00000122521
Gene: ENSMUSG00000057789

Domain	Start	End	E-Value	Type
PDB:2YV6\|A	2	64	2e-29	PDB
SCOP:d1k3ka_	6	75	4e-14	SMART
Blast:BCL	25	64	6e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151920

Meta Mutation Damage Score

0.0832

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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 oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Chst5	T	C	8: 112,616,816 (GRCm39)	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Mcc	T	C	18: 44,857,707 (GRCm39)	D136G	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Washc3	G	A	10: 88,055,142 (GRCm39)	E111K	probably benign	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	probably damaging	Het

Other mutations in Bak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02734:Bak1	APN	17	27,239,927 (GRCm39)	missense	possibly damaging	0.62
R1056:Bak1	UTSW	17	27,240,247 (GRCm39)	missense	possibly damaging	0.83
R1806:Bak1	UTSW	17	27,240,242 (GRCm39)	nonsense	probably null
R4422:Bak1	UTSW	17	27,240,298 (GRCm39)	missense	probably damaging	1.00
R4664:Bak1	UTSW	17	27,241,510 (GRCm39)	missense	possibly damaging	0.81
R5182:Bak1	UTSW	17	27,241,722 (GRCm39)	missense	possibly damaging	0.86
R5185:Bak1	UTSW	17	27,241,722 (GRCm39)	missense	possibly damaging	0.86
R6469:Bak1	UTSW	17	27,240,293 (GRCm39)	missense	probably damaging	1.00
R7155:Bak1	UTSW	17	27,241,434 (GRCm39)	missense	possibly damaging	0.82
R7999:Bak1	UTSW	17	27,240,280 (GRCm39)	missense	probably damaging	1.00
R8086:Bak1	UTSW	17	27,239,911 (GRCm39)	missense	probably benign	0.21
X0066:Bak1	UTSW	17	27,241,543 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAATTCAGGGCTGCCACC -3'
(R):5'- GTGTAGCTTCCCATCTGGTG -3'

Sequencing Primer
(F):5'- AACAGGGTGGGTTATAGTGGCC -3'
(R):5'- CCATCTGGTGGTGGAGGG -3'

Posted On

2015-05-14