Mutagenetix > Incidental Mutation

Incidental Mutation 'R1056:Bak1'

94407

Institutional Source

Beutler Lab

Gene Symbol

Bak1

Ensembl Gene

ENSMUSG00000057789

Gene Name

BCL2-antagonist/killer 1

Synonyms

Bak, N-Bak

MMRRC Submission

039146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27238786-27247601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27240247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 147 (S147P)

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: S147P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025034
Gene: ENSMUSG00000057789
AA Change: S147P

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

possibly damaging
Transcript: ENSMUST00000078691
AA Change: V140A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077757
Gene: ENSMUSG00000057789
AA Change: V140A

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.7%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,924,295 (GRCm39)	Y1649C	probably damaging	Het
Abcc10	A	C	17: 46,614,880 (GRCm39)	C1459W	possibly damaging	Het
Amfr	A	T	8: 94,712,097 (GRCm39)	F278I	probably benign	Het
Anks1b	G	T	10: 90,757,291 (GRCm39)		probably null	Het
Bltp1	C	A	3: 37,037,602 (GRCm39)	H2469N	possibly damaging	Het
Bltp1	T	A	3: 37,098,829 (GRCm39)	M1152K	probably benign	Het
C7	T	C	15: 5,075,260 (GRCm39)	N144S	possibly damaging	Het
Casd1	T	C	6: 4,641,967 (GRCm39)	V748A	probably benign	Het
Ccdc168	C	T	1: 44,100,087 (GRCm39)	G337D	probably damaging	Het
Ccdc180	T	C	4: 45,916,375 (GRCm39)	S859P	probably benign	Het
Ccne2	T	C	4: 11,192,707 (GRCm39)	S2P	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,051 (GRCm39)	I541N	probably benign	Het
Cgnl1	T	A	9: 71,633,177 (GRCm39)	N58I	probably damaging	Het
Chd7	T	C	4: 8,822,402 (GRCm39)	S832P	possibly damaging	Het
Chl1	A	T	6: 103,652,038 (GRCm39)	Y318F	possibly damaging	Het
Coq2	G	T	5: 100,805,813 (GRCm39)	N274K	probably benign	Het
Crhr2	A	T	6: 55,077,720 (GRCm39)	V214E	probably damaging	Het
Dgkg	G	C	16: 22,419,291 (GRCm39)	P70A	probably damaging	Het
Dync2h1	T	C	9: 7,147,731 (GRCm39)	I966M	probably benign	Het
Eif5b	C	G	1: 38,061,248 (GRCm39)	R380G	unknown	Het
Fat4	T	A	3: 38,945,541 (GRCm39)	I1478N	probably damaging	Het
Impact	A	T	18: 13,109,581 (GRCm39)	I92L	probably benign	Het
Ly6c2	A	G	15: 74,983,445 (GRCm39)		probably null	Het
Lypd6b	G	A	2: 49,837,468 (GRCm39)	V147I	possibly damaging	Het
Mdga2	T	C	12: 66,769,894 (GRCm39)	D192G	probably damaging	Het
Mms22l	T	C	4: 24,586,344 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,739,484 (GRCm39)	T732I	possibly damaging	Het
Myrf	C	T	19: 10,200,850 (GRCm39)	M274I	probably benign	Het
Nfx1	G	A	4: 41,003,057 (GRCm39)	R686Q	probably damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Oog4	T	C	4: 143,164,581 (GRCm39)	T245A	possibly damaging	Het
Or1a1b	C	T	11: 74,097,608 (GRCm39)	V145I	probably benign	Het
Or52e3	A	T	7: 102,869,625 (GRCm39)	E233D	probably benign	Het
Pclo	A	T	5: 14,590,069 (GRCm39)	K790*	probably null	Het
Pcm1	A	G	8: 41,774,937 (GRCm39)	E1668G	probably damaging	Het
Pkhd1l1	T	A	15: 44,455,360 (GRCm39)	N4040K	probably damaging	Het
Podnl1	T	A	8: 84,855,905 (GRCm39)	S222T	probably benign	Het
Ppil4	A	G	10: 7,675,396 (GRCm39)	T182A	possibly damaging	Het
Prdm13	T	C	4: 21,678,544 (GRCm39)	K649E	probably damaging	Het
Prob1	A	T	18: 35,786,663 (GRCm39)	H530Q	probably benign	Het
Rbbp4	A	T	4: 129,211,442 (GRCm39)	M404K	probably damaging	Het
Rilpl1	A	T	5: 124,631,900 (GRCm39)	F149I	probably damaging	Het
Sema6c	T	A	3: 95,078,527 (GRCm39)	S543T	probably benign	Het
Sh3rf3	G	T	10: 58,842,904 (GRCm39)	W290L	probably damaging	Het
Slc2a12	T	G	10: 22,541,350 (GRCm39)	S402A	probably benign	Het
Tas2r131	T	A	6: 132,934,030 (GRCm39)	I260F	possibly damaging	Het
Tasp1	A	G	2: 139,850,684 (GRCm39)	I113T	possibly damaging	Het
Tnrc18	G	A	5: 142,759,614 (GRCm39)	R741*	probably null	Het
Ube2o	G	T	11: 116,437,290 (GRCm39)	D244E	probably damaging	Het
Vmn1r206	A	T	13: 22,804,784 (GRCm39)	M141K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp747	A	G	7: 126,973,760 (GRCm39)	S137P	probably benign	Het
Zfp951	A	T	5: 104,963,151 (GRCm39)	H138Q	possibly 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
R1806:Bak1	UTSW	17	27,240,242 (GRCm39)	nonsense	probably null
R4135:Bak1	UTSW	17	27,240,244 (GRCm39)	missense	possibly damaging	0.66
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'- ACGAAAATTCAGGGCTGCCACC -3'
(R):5'- AGCTTAGCCGTGTAGCTTCCCATC -3'

Sequencing Primer
(F):5'- AACAGGGTGGGTTATAGTGGC -3'
(R):5'- CCCATCTGGTGGTGGAGG -3'

Posted On

2014-01-05