Incidental Mutation 'R6469:Bak1'
| ID |
520304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bak1
|
| Ensembl Gene |
ENSMUSG00000057789 |
| Gene Name |
BCL2-antagonist/killer 1 |
| Synonyms |
Bak, N-Bak |
| MMRRC Submission |
044602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27238786-27247601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27240293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 125
(R125C)
|
| 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 |
silent
Transcript: ENSMUST00000025034
|
| SMART Domains |
Protein: ENSMUSP00000025034
Gene: ENSMUSG00000057789
| 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 damaging
Transcript: ENSMUST00000078691
AA Change: R125C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077757
Gene: ENSMUSG00000057789
AA Change: R125C
| 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 |
0.9471 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
| Validation Efficiency |
100% (43/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
| Aadacl2 |
A |
T |
3: 59,932,210 (GRCm39) |
T242S |
probably benign |
Het |
| Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,246,511 (GRCm39) |
|
probably null |
Het |
| Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
| Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
| Dcun1d4 |
G |
A |
5: 73,691,957 (GRCm39) |
M155I |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
| Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
| Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
| Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
| Pax9 |
C |
A |
12: 56,743,648 (GRCm39) |
F98L |
probably damaging |
Het |
| Phlpp1 |
G |
A |
1: 106,214,833 (GRCm39) |
R585Q |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
| Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
| Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
| Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
| Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,561,898 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
| Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
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 |
|
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'- AAAATTCAGGGCTGCCACC -3'
(R):5'- GACTTTCTGACCTGTCCTGG -3'
Sequencing Primer
(F):5'- AACAGGGTGGGTTATAGTGGCC -3'
(R):5'- GCAGCTTAGCCGTGTAGCTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation