Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Bak1'

557266

Institutional Source

Beutler Lab

Gene Symbol

Bak1

Ensembl Gene

ENSMUSG00000057789

Gene Name

BCL2-antagonist/killer 1

Synonyms

N-Bak, Bak

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27019810-27029009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27022460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 108 (L108P)

Ref Sequence

ENSEMBL: ENSMUSP00000077757 (fasta)

Gene Model

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

AlphaFold

O08734

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025034
AA Change: L108P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025034
Gene: ENSMUSG00000057789
AA Change: L108P

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: L108P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077757
Gene: ENSMUSG00000057789
AA Change: L108P

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

SMART Domains

Protein: ENSMUSP00000122521
Gene: ENSMUSG00000057789
AA Change: L56P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,865,813	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
Aste1	C	T	9: 105,405,136	P614L	probably damaging	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,579,963	V1458E	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Papln	T	A	12: 83,776,521	L444Q	probably damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rab26	T	C	17: 24,532,289	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Smgc	A	T	15: 91,852,608	I463F	possibly damaging	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	probably damaging	Het

Other mutations in Bak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02734:Bak1	APN	17	27020953	missense	possibly damaging	0.62
R1056:Bak1	UTSW	17	27021273	missense	possibly damaging	0.83
R1806:Bak1	UTSW	17	27021268	nonsense	probably null
R4135:Bak1	UTSW	17	27021270	missense	possibly damaging	0.66
R4422:Bak1	UTSW	17	27021324	missense	probably damaging	1.00
R4664:Bak1	UTSW	17	27022536	missense	possibly damaging	0.81
R5182:Bak1	UTSW	17	27022748	missense	possibly damaging	0.86
R5185:Bak1	UTSW	17	27022748	missense	possibly damaging	0.86
R6469:Bak1	UTSW	17	27021319	missense	probably damaging	1.00
R7999:Bak1	UTSW	17	27021306	missense	probably damaging	1.00
R8086:Bak1	UTSW	17	27020937	missense	probably benign	0.21
X0066:Bak1	UTSW	17	27022569	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGCCTCTTAGAAGCCATC -3'
(R):5'- CTATCAGACCTTCAGACAGGGC -3'

Sequencing Primer
(F):5'- AGCCATCCAGTTGCAATTGG -3'
(R):5'- ACCTTCAGACAGGGCTAGGTG -3'

Posted On

2019-06-26