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

Bak, N-Bak

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27238786-27247601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27241434 bp (GRCm39)

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: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	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
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
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'- GTGGCCTCTTAGAAGCCATC -3'
(R):5'- CTATCAGACCTTCAGACAGGGC -3'

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

Posted On

2019-06-26